Sequencing Tests

Cancer

Solid Tumor Gene Set

Requisition Cancer Sequencing Requisition
Test Components Next generation sequencing of all coding regions of 122 genes: ABL1, AFF3, AKT1, AKT2, AKT3, ALK*, APC, AR, ATM, ATRX, BAP1, BCL2L1, BRAF, BRCA1, BRCA2, BRIP1, CCND1, CDH1, CDK12, CDK6, CDKN1A, CDKN1B, CDKN2A, CHEK2, CREBBP, CSF1R, CTNNB1, DAXX, DDR2, EGFR, ERBB2, ERBB3, ERBB4, ERCC2, ESR1, ESR2, FANCA, FAT1, FBXW7, FGFR1, FGFR2*, FGFR3*, FGFR4, FLT1, FLT3, FLT4, FOXL2, GATA4, GNAS, H3F3A, HIST1H3B, HRAS, IDH1, IDH2, JAK1, JAK2, KDM5C, KDR, KEAP1, KIT, KLF4, KMT2C, KMT2D, KRAS, MAP2K1, MAP2K2, MAP3K3, MCL1, MED12, MET, MLH1, MN1, MTOR, MYB, MYBL1, MYC, NF1, NF2, NFE2L2, NOTCH1, NOTCH2, NRAS, NTRK1*, NTRK2, PALB2, PBRM1, PDGFRA, PDGFRB, PIK3C2B, PIK3CA, PIK3R1, PIK3R2, POLD1, POLE, PPARG, PPP2R1A, PTEN, RAD54B, RAF1, RB1, RET*, RIT1,ROS1*, RXRA, SETD2, SHOC2, SMAD2, SMAD4, SMARCA4, SMARCB1, SOS1, SPRED1, STK11, TEK, TERT, TGFBR2, TP53, TRAF7, TSC1, TSC2, VHL and WT1 to detect single nucleotide variants and small insertions and deletions. *selected introns also sequenced to detect rearrangements.
Test Details Pathologist review to identify neoplastic tissue is followed by extraction of tumor DNA, capture of the genes to be assayed, and sequencing of the entire coding region and select introns on the Illumina platform. Identified variants previously described in cancer and other potentially pathogenic non-synonymous variants are reported with interpretations.
Methodology Next Generation Sequencing
Performed Mon-Fri
Turnaround 3 weeks from receipt of specimen
Specimen Requirements Tumor-containing formalin fixed paraffin embedded tissue; bone marrow aspirate; disease-involved peripheral blood.
Sample Collection Routine Tissue Block: One (1) formalin fixed paraffin embedded (FFPE) block containing viable tumor with tumor cells. Tumor cells must account for at least 10% of cell nuclei in the tumor-containing regions of the block. One (1) corresponding hematoxylin and eosin (H&E) stained slide (if available). For molecular analysis, tumor cells will be excised by GPS in the form of tissue cores or 10 µm sections. Unstained Slides: Ten (10) 5-10 µm unstained sections on positively charged, unbaked slides from a single tumor-containing formalin fixed paraffin embedded block AND One (1) corresponding hematoxylin and eosin (H&E) stained slide (if available). Note: For smaller tissues (less than 5mm x 5mm) please send 15 slides. For molecular analysis, tumor cells will be excised by microdissection. Cell Block: One (1) formalin fixed paraffin embedded (FFPE) cell block containing sufficient tumor (preferably with large groupings of tumor cells and/or without significant admixture by non-neoplastic nucleated cells). For molecular analysis, tumor cells will be excised in the form of tissue cores or 10 µm sections. Bone Marrow or Involved Peripheral Blood: One (1) EDTA (lavender top) tube containing 2-5 mL. Note: Greater than 10% tumor-involvement required.
Minimum Sample Volume 3- 1mm punches (cores); 5- 5µm scrolls; 10 – 5µm slides; 2 ml bone marrow or peripheral blood
Storage/Transport Conditions FFPE blocks: ambient /room temperature. Place in a sealed container (bag). Place primary container in a padded envelope. Recommend shipping by overnight. In seasonal warmer weather, include cold pack (DO NOT FREEZE).; Blood and marrow: Ambient / room temperature preferred. However, if delivery / shipment of specimen is greater than four (4) hours, refrigerate at 4 degrees until delivery / shipment by overnight delivery. In seasonal warmer weather, include cold pack (DO NOT FREEZE).
Unacceptable Conditions Specimens processed using acid decalcification are not acceptable (EDTA is acceptable); Minimum tumor cellularity must be >10% in tumor involved regions of the specimen. Frozen specimens, use of inappropriate tube type, and clotted or hemolyzed specimens.
Special Instructions
CPT Code(s) 81455
Miscellaneous
Lab Area/Performed By GPS

Hematopoietic Disorders Gene Set

Requisition Cancer Sequencing Requisition
Test Components Next generation sequencing of all coding regions of 54 genes: ABL1, ASXL1, ATM, BCOR, BIRC3, BRAF, CALR, CBL, CEBPA, CREBBP, CSF1R, CSF3R, DNMT3A, EP300, ETV6, EZH2, FBXW7, FGFR4, FLT3, GATA1, GATA2, GATA3, IDH1, IDH2, IL7R, JAK2, JAK3, KDM6A, KIT, KRAS, KMT2A*, MPL, NF1, NOTCH1, NOTCH2, NPM1, NRAS, NSD1, PAX5, PDGFRA, PDGFRB, PTPN11, RUNX1, SETB1, SF3B1, SRSF2, STAG2, TERT, TET1, TET2, TP53, TSLP, U2AF1 and ZRSR2 to detect single nucleotide variants and small insertions and deletions.*selected introns also sequenced to detect rearrangements.
Test Details Pathologist review to identify neoplastic tissue is followed by extraction of tumor DNA, capture of the genes to be assayed, and sequencing of the entire coding region and select introns on the Illumina platform. Identified variants previously described in cancer and other potentially pathogenic non-synonymous variants are reported with interpretations.
Methodology Next Generation Sequencing
Performed Mon-Fri
Turnaround 3 weeks from receipt of specimen
Specimen Requirements Tumor-containing formalin fixed paraffin embedded tissue; bone marrow aspirate; disease-involved peripheral blood.
Sample Collection Routine Tissue Block: One (1) formalin fixed paraffin embedded (FFPE) block containing viable tumor with tumor cells. Tumor cells must account for at least 10% of cell nuclei in the tumor-containing regions of the block. One (1) corresponding hematoxylin and eosin (H&E) stained slide (if available). For molecular analysis, tumor cells will be excised by GPS in the form of tissue cores or 10 µm sections. Unstained Slides: Ten (10) 5-10 µm unstained sections on positively charged, unbaked slides from a single tumor-containing formalin fixed paraffin embedded block AND One (1) corresponding hematoxylin and eosin (H&E) stained slide (if available). Note: For smaller tissues (less than 5mm x 5mm) please send 15 slides. For molecular analysis, tumor cells will be excised by microdissection. Cell Block: One (1) formalin fixed paraffin embedded (FFPE) cell block containing sufficient tumor (preferably with large groupings of tumor cells and/or without significant admixture by non-neoplastic nucleated cells). For molecular analysis, tumor cells will be excised in the form of tissue cores or 10 µm sections. Bone Marrow or Involved Peripheral Blood: One (1) EDTA (lavender top) tube containing 2-5 mL. Note: Greater than 10% tumor-involvement required.
Minimum Sample Volume 3- 1mm punches (cores); 5- 5µm scrolls; 10 – 5µm slides; 2 ml bone marrow or peripheral blood
Storage/Transport Conditions FFPE blocks: ambient /room temperature. Place in a sealed container (bag). Place primary container in a padded envelope. Recommend shipping by overnight. In seasonal warmer weather, include cold pack (DO NOT FREEZE).; Blood and marrow: Ambient / room temperature preferred. However, if delivery / shipment of specimen is greater than four (4) hours, refrigerate at 4 degrees until delivery / shipment by overnight delivery. In seasonal warmer weather, include cold pack (DO NOT FREEZE).
Unacceptable Conditions Specimens processed using acid decalcification are not acceptable (EDTA is acceptable); Minimum tumor cellularity must be >10% in tumor involved regions of the specimen. Frozen specimens, use of inappropriate tube type, and clotted or hemolyzed specimens.
Special Instructions
CPT Code(s) 81455
Miscellaneous
Lab Area/Performed By GPS

Breast Tumor Gene Set

Requisition Cancer Sequencing Requisition
Test Components Next generation sequencing of all coding regions of 42 genes: AKT1, ATM, BRAF, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDK6, CDKN2A, CHEK2, EGFR, ERBB2, ERBB3, ERBB4, ESR1, ESR2, FANCA, FBXW7, FGFR1, FGFR2*, GATA3, HRAS, IDH1, IDH2, KDR, KIT, KRAS, MAP2K1, MAP2K2, MET, PALB2, PIK3CA, PIK3R1, PTEN, RAC1, RAD54B, RB1, RET*, RUNX1, STK11 and TP53 to detect single nucleotide variants and small insertions and deletions. *selected introns also sequenced to detect rearrangements.
Test Details Pathologist review to identify neoplastic tissue is followed by extraction of tumor DNA, capture of the genes to be assayed, and sequencing of the entire coding region and select introns on the Illumina platform. Identified variants previously described in cancer and other potentially pathogenic non-synonymous variants are reported with interpretations.
Methodology Next Generation Sequencing
Performed Mon-Fri
Turnaround 3 weeks from receipt of specimen
Specimen Requirements Tumor-containing formalin fixed paraffin embedded tissue; bone marrow aspirate; disease-involved peripheral blood.
Sample Collection Routine Tissue Block: One (1) formalin fixed paraffin embedded (FFPE) block containing viable tumor with tumor cells. Tumor cells must account for at least 10% of cell nuclei in the tumor-containing regions of the block. One (1) corresponding hematoxylin and eosin (H&E) stained slide (if available). For molecular analysis, tumor cells will be excised by GPS in the form of tissue cores or 10 µm sections. Unstained Slides: Ten (10) 5-10 µm unstained sections on positively charged, unbaked slides from a single tumor-containing formalin fixed paraffin embedded block AND One (1) corresponding hematoxylin and eosin (H&E) stained slide (if available). Note: For smaller tissues (less than 5mm x 5mm) please send 15 slides. For molecular analysis, tumor cells will be excised by microdissection. Cell Block: One (1) formalin fixed paraffin embedded (FFPE) cell block containing sufficient tumor (preferably with large groupings of tumor cells and/or without significant admixture by non-neoplastic nucleated cells). For molecular analysis, tumor cells will be excised in the form of tissue cores or 10 µm sections. Bone Marrow or Involved Peripheral Blood: One (1) EDTA (lavender top) tube containing 2-5 mL. Note: Greater than 10% tumor-involvement required.
Minimum Sample Volume 3- 1mm punches (cores); 5- 5µm scrolls; 10 – 5µm slides; 2 ml bone marrow or peripheral blood
Storage/Transport Conditions FFPE blocks: ambient /room temperature. Place in a sealed container (bag). Place primary container in a padded envelope. Recommend shipping by overnight. In seasonal warmer weather, include cold pack (DO NOT FREEZE).; Blood and marrow: Ambient / room temperature preferred. However, if delivery / shipment of specimen is greater than four (4) hours, refrigerate at 4 degrees until delivery / shipment by overnight delivery. In seasonal warmer weather, include cold pack (DO NOT FREEZE).
Unacceptable Conditions Specimens processed using acid decalcification are not acceptable (EDTA is acceptable); Minimum tumor cellularity must be >10% in tumor involved regions of the specimen. Frozen specimens, use of inappropriate tube type, and clotted or hemolyzed specimens.
Special Instructions
CPT Code(s) 81445
Miscellaneous
Lab Area/Performed By GPS

CNS Tumors Gene Set

Requisition Cancer Sequencing Requisition
Test Components Next generation sequencing of all coding regions of 48 genes: AKT1, ATRX, BRAF, CDKN2A, CIC, CTNNB1, DAXX, DNMT3A, EGFR, ERBB2, FGFR1, FGFR2*, FUBP1, H3F3A, HIST1H3B, IDH1, IDH2, KLF4, KRAS, MED12, MET, MN1, MTOR, MYB, MYBL1, MYC, NF1, NF2, NOTCH1, NTRK1*, NTRK2, PDGFRA, PIK3CA, PIK3R1, PTCH1, PTEN, RB1, SETD2, SHH, SMARCA4, SMARCB1, SMO, SUFU, TERT, TP53, TRAF7, WNT1 and WT1 to detect single nucleotide variants and small insertions and deletions.
Test Details Pathologist review to identify neoplastic tissue is followed by extraction of tumor DNA, capture of the genes to be assayed, and sequencing of the entire coding region and select introns on the Illumina platform. Identified variants previously described in cancer and other potentially pathogenic non-synonymous variants are reported with interpretations.
Methodology Next Generation Sequencing
Performed Mon-Fri
Turnaround 3 weeks from receipt of specimen
Specimen Requirements Tumor-containing formalin fixed paraffin embedded tissue; bone marrow aspirate; disease-involved peripheral blood.
Sample Collection Routine Tissue Block: One (1) formalin fixed paraffin embedded (FFPE) block containing viable tumor with tumor cells. Tumor cells must account for at least 10% of cell nuclei in the tumor-containing regions of the block. One (1) corresponding hematoxylin and eosin (H&E) stained slide (if available). For molecular analysis, tumor cells will be excised by GPS in the form of tissue cores or 10 µm sections. Unstained Slides: Ten (10) 5-10 µm unstained sections on positively charged, unbaked slides from a single tumor-containing formalin fixed paraffin embedded block AND One (1) corresponding hematoxylin and eosin (H&E) stained slide (if available). Note: For smaller tissues (less than 5mm x 5mm) please send 15 slides. For molecular analysis, tumor cells will be excised by microdissection. Cell Block: One (1) formalin fixed paraffin embedded (FFPE) cell block containing sufficient tumor (preferably with large groupings of tumor cells and/or without significant admixture by non-neoplastic nucleated cells). For molecular analysis, tumor cells will be excised in the form of tissue cores or 10 µm sections. Bone Marrow or Involved Peripheral Blood: One (1) EDTA (lavender top) tube containing 2-5 mL. Note: Greater than 10% tumor-involvement required.
Minimum Sample Volume 3- 1mm punches (cores); 5- 5µm scrolls; 10 – 5µm slides; 2 ml bone marrow or peripheral blood
Storage/Transport Conditions FFPE blocks: ambient /room temperature. Place in a sealed container (bag). Place primary container in a padded envelope. Recommend shipping by overnight. In seasonal warmer weather, include cold pack (DO NOT FREEZE).; Blood and marrow: Ambient / room temperature preferred. However, if delivery / shipment of specimen is greater than four (4) hours, refrigerate at 4 degrees until delivery / shipment by overnight delivery. In seasonal warmer weather, include cold pack (DO NOT FREEZE).
Unacceptable Conditions Specimens processed using acid decalcification are not acceptable (EDTA is acceptable); Minimum tumor cellularity must be >10% in tumor involved regions of the specimen. Frozen specimens, use of inappropriate tube type, and clotted or hemolyzed specimens.
Special Instructions
CPT Code(s) 81445
Miscellaneous
Lab Area/Performed By GPS

Genitourinary Tumor Gene Set

Requisition Cancer Sequencing Requisition
Test Components Next generation sequencing of all coding regions of 44 genes: AKT1, AKT2, AKT3, AR, ATM, BAP1, BRAF, BRCA1, BRCA2, CDKN1A, CDKN2A, CREBBP, EGFR, ERBB2, ERBB3, ERCC2, FBXW7, FGFR2*, FGFR3*, HRAS, KDM5C, KDM6A, KMT2C, KMT2D, MED12, MET, MLH1, MTOR, NF1, NRAS, PBRM1, PIK3CA, PIK3R1, PPARG, PTCH1, PTEN, RXRA, SETD2, STAG2, TERT, TP53, TSC1, TSC2 and VHL to detect single nucleotide variants and small insertions and deletions. *selected introns also sequenced to detect rearrangements.
Test Details Pathologist review to identify neoplastic tissue is followed by extraction of tumor DNA, capture of the genes to be assayed, and sequencing of the entire coding region and select introns on the Illumina platform. Identified variants previously described in cancer and other potentially pathogenic non-synonymous variants are reported with interpretations.
Methodology Next Generation Sequencing
Performed Mon-Fri
Turnaround 3 weeks from receipt of specimen
Specimen Requirements Tumor-containing formalin fixed paraffin embedded tissue; bone marrow aspirate; disease-involved peripheral blood.
Sample Collection Routine Tissue Block: One (1) formalin fixed paraffin embedded (FFPE) block containing viable tumor with tumor cells. Tumor cells must account for at least 10% of cell nuclei in the tumor-containing regions of the block. One (1) corresponding hematoxylin and eosin (H&E) stained slide (if available). For molecular analysis, tumor cells will be excised by GPS in the form of tissue cores or 10 µm sections. Unstained Slides: Ten (10) 5-10 µm unstained sections on positively charged, unbaked slides from a single tumor-containing formalin fixed paraffin embedded block AND One (1) corresponding hematoxylin and eosin (H&E) stained slide (if available). Note: For smaller tissues (less than 5mm x 5mm) please send 15 slides. For molecular analysis, tumor cells will be excised by microdissection. Cell Block: One (1) formalin fixed paraffin embedded (FFPE) cell block containing sufficient tumor (preferably with large groupings of tumor cells and/or without significant admixture by non-neoplastic nucleated cells). For molecular analysis, tumor cells will be excised in the form of tissue cores or 10 µm sections. Bone Marrow or Involved Peripheral Blood: One (1) EDTA (lavender top) tube containing 2-5 mL. Note: Greater than 10% tumor-involvement required.
Minimum Sample Volume 3- 1mm punches (cores); 5- 5µm scrolls; 10 – 5µm slides; 2 ml bone marrow or peripheral blood
Storage/Transport Conditions FFPE blocks: ambient /room temperature. Place in a sealed container (bag). Place primary container in a padded envelope. Recommend shipping by overnight. In seasonal warmer weather, include cold pack (DO NOT FREEZE).; Blood and marrow: Ambient / room temperature preferred. However, if delivery / shipment of specimen is greater than four (4) hours, refrigerate at 4 degrees until delivery / shipment by overnight delivery. In seasonal warmer weather, include cold pack (DO NOT FREEZE).
Unacceptable Conditions Specimens processed using acid decalcification are not acceptable (EDTA is acceptable); Minimum tumor cellularity must be >10% in tumor involved regions of the specimen. Frozen specimens, use of inappropriate tube type, and clotted or hemolyzed specimens.
Special Instructions
CPT Code(s) 81445
Miscellaneous
Lab Area/Performed By GPS

Gynecologic Tumor Gene Set

Requisition Cancer Sequencing Requisition
Test Components Next generation sequencing of all coding regions of 50 genes: ABL1, AKT1, AKT2, AKT3, APC, ATM, BCOR, BRAF, BRCA1, BRCA2, CCND1, CDK12, CDKN2A, CTNNB1, EGFR, EP300, ERBB2, ERBB4, FAT1, FBXW7, FGFR1, FGFR2*, FGFR3*, FOXL2, HRAS, JAK3, KDR, KIT, KRAS, MAP2K1, MAP2K2, MED12, MET, MLH1, MTOR, NF1, NRAS, PIK3CA, PIK3R1, PIK3R2, POLD1, POLE, PPP2R1A, PTEN, RB1, SMAD4, SMO, STK11, TP53 and VHL to detect single nucleotide variants and small insertions and deletions. *selected introns also sequenced to detect rearrangements.
Test Details Pathologist review to identify neoplastic tissue is followed by extraction of tumor DNA, capture of the genes to be assayed, and sequencing of the entire coding region and select introns on the Illumina platform. Identified variants previously described in cancer and other potentially pathogenic non-synonymous variants are reported with interpretations.
Methodology Next Generation Sequencing
Performed Mon-Fri
Turnaround 3 weeks from receipt of specimen
Specimen Requirements Tumor-containing formalin fixed paraffin embedded tissue; bone marrow aspirate; disease-involved peripheral blood.
Sample Collection Routine Tissue Block: One (1) formalin fixed paraffin embedded (FFPE) block containing viable tumor with tumor cells. Tumor cells must account for at least 10% of cell nuclei in the tumor-containing regions of the block. One (1) corresponding hematoxylin and eosin (H&E) stained slide (if available). For molecular analysis, tumor cells will be excised by GPS in the form of tissue cores or 10 µm sections. Unstained Slides: Ten (10) 5-10 µm unstained sections on positively charged, unbaked slides from a single tumor-containing formalin fixed paraffin embedded block AND One (1) corresponding hematoxylin and eosin (H&E) stained slide (if available). Note: For smaller tissues (less than 5mm x 5mm) please send 15 slides. For molecular analysis, tumor cells will be excised by microdissection. Cell Block: One (1) formalin fixed paraffin embedded (FFPE) cell block containing sufficient tumor (preferably with large groupings of tumor cells and/or without significant admixture by non-neoplastic nucleated cells). For molecular analysis, tumor cells will be excised in the form of tissue cores or 10 µm sections. Bone Marrow or Involved Peripheral Blood: One (1) EDTA (lavender top) tube containing 2-5 mL. Note: Greater than 10% tumor-involvement required.
Minimum Sample Volume 3- 1mm punches (cores); 5- 5µm scrolls; 10 – 5µm slides; 2 ml bone marrow or peripheral blood
Storage/Transport Conditions FFPE blocks: ambient /room temperature. Place in a sealed container (bag). Place primary container in a padded envelope. Recommend shipping by overnight. In seasonal warmer weather, include cold pack (DO NOT FREEZE).; Blood and marrow: Ambient / room temperature preferred. However, if delivery / shipment of specimen is greater than four (4) hours, refrigerate at 4 degrees until delivery / shipment by overnight delivery. In seasonal warmer weather, include cold pack (DO NOT FREEZE).
Unacceptable Conditions Specimens processed using acid decalcification are not acceptable (EDTA is acceptable); Minimum tumor cellularity must be >10% in tumor involved regions of the specimen. Frozen specimens, use of inappropriate tube type, and clotted or hemolyzed specimens.
Special Instructions
CPT Code(s) 81445
Miscellaneous
Lab Area/Performed By GPS

Head & Neck Tumor Gene Set

Requisition Cancer Sequencing Requisition
Test Components Next generation sequencing of all coding regions of 41 genes: AFF3, AKT1, AKT2, AKT3, APC, ASXL1, ATM, BCL2L1, BRCA1, BRCA2, CCND1, CDKN2A, EGFR, EP300, ERBB2, FAT1, FBXW7, GATA4, HRAS, KDM6A, KMT2C, KMT2D, KRAS, MCL1, MTOR, NF1, NFE2L2, NOTCH1, NOTCH2, NRAS, NSD1, PIK3C2B, PIK3CA, PIK3R1, PTEN, RAC1, RB1, RHOA, SMAD4, TGFBR2 and TP53 to detect single nucleotide variants and small insertions and deletions. *selected introns also sequenced to detect rearrangements.
Test Details Pathologist review to identify neoplastic tissue is followed by extraction of tumor DNA, capture of the genes to be assayed, and sequencing of the entire coding region and select introns on the Illumina platform. Identified variants previously described in cancer and other potentially pathogenic non-synonymous variants are reported with interpretations.
Methodology Next Generation Sequencing
Performed Mon-Fri
Turnaround 3 weeks from receipt of specimen
Specimen Requirements Tumor-containing formalin fixed paraffin embedded tissue; bone marrow aspirate; disease-involved peripheral blood.
Sample Collection Routine Tissue Block: One (1) formalin fixed paraffin embedded (FFPE) block containing viable tumor with tumor cells. Tumor cells must account for at least 10% of cell nuclei in the tumor-containing regions of the block. One (1) corresponding hematoxylin and eosin (H&E) stained slide (if available). For molecular analysis, tumor cells will be excised by GPS in the form of tissue cores or 10 µm sections. Unstained Slides: Ten (10) 5-10 µm unstained sections on positively charged, unbaked slides from a single tumor-containing formalin fixed paraffin embedded block AND One (1) corresponding hematoxylin and eosin (H&E) stained slide (if available). Note: For smaller tissues (less than 5mm x 5mm) please send 15 slides. For molecular analysis, tumor cells will be excised by microdissection. Cell Block: One (1) formalin fixed paraffin embedded (FFPE) cell block containing sufficient tumor (preferably with large groupings of tumor cells and/or without significant admixture by non-neoplastic nucleated cells). For molecular analysis, tumor cells will be excised in the form of tissue cores or 10 µm sections. Bone Marrow or Involved Peripheral Blood: One (1) EDTA (lavender top) tube containing 2-5 mL. Note: Greater than 10% tumor-involvement required.
Minimum Sample Volume 3- 1mm punches (cores); 5- 5µm scrolls; 10 – 5µm slides; 2 ml bone marrow or peripheral blood
Storage/Transport Conditions FFPE blocks: ambient /room temperature. Place in a sealed container (bag). Place primary container in a padded envelope. Recommend shipping by overnight. In seasonal warmer weather, include cold pack (DO NOT FREEZE).; Blood and marrow: Ambient / room temperature preferred. However, if delivery / shipment of specimen is greater than four (4) hours, refrigerate at 4 degrees until delivery / shipment by overnight delivery. In seasonal warmer weather, include cold pack (DO NOT FREEZE).
Unacceptable Conditions Specimens processed using acid decalcification are not acceptable (EDTA is acceptable); Minimum tumor cellularity must be >10% in tumor involved regions of the specimen. Frozen specimens, use of inappropriate tube type, and clotted or hemolyzed specimens.
Special Instructions
CPT Code(s) 81445
Miscellaneous
Lab Area/Performed By GPS

Melanoma Gene Set

Requisition Cancer Sequencing Requisition
Test Components Next generation sequencing of all coding regions of 38 genes: AKT1, ALK*, BAP1, BRAF, CCND1, CDK4, CDKN2A, CTNNB1, EGFR, ERBB2, ERBB4, FGFR1, FGFR2*, FGFR3*, GNA11, GNAQ, HRAS, KIT, KMT2C, KMT2D, KRAS, MAP2K1, MAP2K2, MED12, MET, MTOR, NF1, NRAS, PDGFRA, PDGFRB, PIK3CA, PTEN, RAC1, RB1, RET*, ROS1*, TERT and TP53 to detect single nucleotide variants and small insertions and deletions.*selected introns also sequenced to detect rearrangements.
Test Details Pathologist review to identify neoplastic tissue is followed by extraction of tumor DNA, capture of the genes to be assayed, and sequencing of the entire coding region and select introns on the Illumina platform. Identified variants previously described in cancer and other potentially pathogenic non-synonymous variants are reported with interpretations.
Methodology Next Generation Sequencing
Performed Mon-Fri
Turnaround 3 weeks from receipt of specimen
Speciment Requirements Tumor-containing formalin fixed paraffin embedded tissue; bone marrow aspirate; disease-involved peripheral blood.
Sample Collection Routine Tissue Block: One (1) formalin fixed paraffin embedded (FFPE) block containing viable tumor with tumor cells. Tumor cells must account for at least 10% of cell nuclei in the tumor-containing regions of the block. One (1) corresponding hematoxylin and eosin (H&E) stained slide (if available). For molecular analysis, tumor cells will be excised by GPS in the form of tissue cores or 10 µm sections. Unstained Slides: Ten (10) 5-10 µm unstained sections on positively charged, unbaked slides from a single tumor-containing formalin fixed paraffin embedded block AND One (1) corresponding hematoxylin and eosin (H&E) stained slide (if available). Note: For smaller tissues (less than 5mm x 5mm) please send 15 slides. For molecular analysis, tumor cells will be excised by microdissection. Cell Block: One (1) formalin fixed paraffin embedded (FFPE) cell block containing sufficient tumor (preferably with large groupings of tumor cells and/or without significant admixture by non-neoplastic nucleated cells). For molecular analysis, tumor cells will be excised in the form of tissue cores or 10 µm sections. Bone Marrow or Involved Peripheral Blood: One (1) EDTA (lavender top) tube containing 2-5 mL. Note: Greater than 10% tumor-involvement required.
Minimum Sample Volume 3- 1mm punches (cores); 5- 5µm scrolls; 10 – 5µm slides; 2 ml bone marrow or peripheral blood
Storage/Transport Conditions FFPE blocks: ambient /room temperature. Place in a sealed container (bag). Place primary container in a padded envelope. Recommend shipping by overnight. In seasonal warmer weather, include cold pack (DO NOT FREEZE).; Blood and marrow: Ambient / room temperature preferred. However, if delivery / shipment of specimen is greater than four (4) hours, refrigerate at 4 degrees until delivery / shipment by overnight delivery. In seasonal warmer weather, include cold pack (DO NOT FREEZE).
Unacceptable Conditions Specimens processed using acid decalcification are not acceptable (EDTA is acceptable); Minimum tumor cellularity must be >10% in tumor involved regions of the specimen. Frozen specimens, use of inappropriate tube type, and clotted or hemolyzed specimens.
Special Instructions
CPT Code(s) 81445
Miscellaneous
Lab Area/Performed By GPS

Thoracic Tumor Gene Set

Requisition Cancer Sequencing Requisition
Test Components Next generation sequencing of all coding regions of 36 genes: AKT1, AKT2, AKT3, ALK*, ATM, BAP1, BRAF, CDKN1B, CDKN2A, DDR2, ERBB2, ERBB3, FANCA, FGFR1, FLT1, FLT4, HRAS, KDR, KEAP1, KMT2C, KMT2D, KRAS, MED12, MET, NF1, NRAS, NTRK1*, RB1, RET*, RIT1, ROS1*, SMARCA4, STK11, TP53, TSC1 and TSC2 to detect single nucleotide variants and small insertions and deletions. *selected introns also sequenced to detect rearrangements.
Test Details Pathologist review to identify neoplastic tissue is followed by extraction of tumor DNA, capture of the genes to be assayed, and sequencing of the entire coding region and select introns on the Illumina platform. Identified variants previously described in cancer and other potentially pathogenic non-synonymous variants are reported with interpretations.
Methodology Next Generation Sequencing
Performed Mon-Fri
Turnaround 3 weeks from receipt of specimen
Specimen Requirements Tumor-containing formalin fixed paraffin embedded tissue; bone marrow aspirate; disease-involved peripheral blood.
Sample Collection Routine Tissue Block: One (1) formalin fixed paraffin embedded (FFPE) block containing viable tumor with tumor cells. Tumor cells must account for at least 10% of cell nuclei in the tumor-containing regions of the block. One (1) corresponding hematoxylin and eosin (H&E) stained slide (if available). For molecular analysis, tumor cells will be excised by GPS in the form of tissue cores or 10 µm sections. Unstained Slides: Ten (10) 5-10 µm unstained sections on positively charged, unbaked slides from a single tumor-containing formalin fixed paraffin embedded block AND One (1) corresponding hematoxylin and eosin (H&E) stained slide (if available). Note: For smaller tissues (less than 5mm x 5mm) please send 15 slides. For molecular analysis, tumor cells will be excised by microdissection. Cell Block: One (1) formalin fixed paraffin embedded (FFPE) cell block containing sufficient tumor (preferably with large groupings of tumor cells and/or without significant admixture by non-neoplastic nucleated cells). For molecular analysis, tumor cells will be excised in the form of tissue cores or 10 µm sections. Bone Marrow or Involved Peripheral Blood: One (1) EDTA (lavender top) tube containing 2-5 mL. Note: Greater than 10% tumor-involvement required.
Minimum Sample Volume 3- 1mm punches (cores); 5- 5µm scrolls; 10 – 5µm slides; 2 ml bone marrow or peripheral blood
Storage/Transport Conditions FFPE blocks: ambient /room temperature. Place in a sealed container (bag). Place primary container in a padded envelope. Recommend shipping by overnight. In seasonal warmer weather, include cold pack (DO NOT FREEZE).; Blood and marrow: Ambient / room temperature preferred. However, if delivery / shipment of specimen is greater than four (4) hours, refrigerate at 4 degrees until delivery / shipment by overnight delivery. In seasonal warmer weather, include cold pack (DO NOT FREEZE).
Unacceptable Conditions Specimens processed using acid decalcification are not acceptable (EDTA is acceptable); Minimum tumor cellularity must be >10% in tumor involved regions of the specimen. Frozen specimens, use of inappropriate tube type, and clotted or hemolyzed specimens.
Special Instructions
CPT Code(s) 81445
Miscellaneous
Lab Area/Performed By GPS

Somatic and Related Disorders

Somatic Overgrowth Gene Set

Requisition SOMA Sequencing Requisition
Test Components Next generation sequencing of all coding regions of 20 genes: AKT1, AKT2, AKT3, FGFR1, GNA11, GNAQ, IDH1, IDH2, MAP2K1, MAP3K3, MTOR, PIK3CA, PIK3R1, PIK3R2, PTEN, RASA1, SMO, TEK, TSC1 and TSC2.
Test Details Extraction of DNA, capture of the genes to be assayed, and sequencing of the entire coding region and select introns on the Illumina platform. Identified variants previously described in segmental overgrowth and related syndromes and other potentially pathogenic non-synonymous variants are reported with interpretations.
Methodology Next Generation Sequencing
Performed Mon-Fri
Turnaround 6-8 weeks from receipt of specimen
Specimen Requirements **Primary specimen required: tissue from the affected area.  Formalin fixed paraffin embedded affected tissue; fresh affected tissue in transport or tissue culture media; buccal swab.  Secondary specimen for comparative study: peripheral blood.
Sample Collection Routine Tissue Block: One (1) formalin fixed paraffin embedded (FFPE) block containing affected tissue. Peripheral Blood: One (1) EDTA (lavender top) tube containing 2-5 mL.
Mininum Sample Volume
Storage/Transport Conditions FFPE blocks: ambient /room temperature. Place in a sealed container (bag). Place primary container in a padded envelope. Recommend shipping by overnight. In seasonal warmer weather, include cold pack (DO NOT FREEZE).; Blood: Ambient / room temperature preferred. However, if delivery / shipment of specimen is greater than four (4) hours, refrigerate at 4 degrees until delivery / shipment by overnight delivery. In seasonal warmer weather, include cold pack (DO NOT FREEZE).
Unacceptable Conditions Specimens processed using acid decalcification are not acceptable (EDTA is acceptable)
Special Instructions
CPT Code(s) 81407
Miscellaneous
Lab Area/Performed By GPS

PIK3CA-Related Overgrowth Gene Set

Requisition GPS SOMA Sequencing Requisition
Test Components Next generation sequencing of all coding regions of PIK3CA.
Test Details Extraction of DNA, capture of the genes to be assayed, and sequencing of the entire coding region and select introns on the Illumina platform. Identified variants previously described in segmental overgrowth and related syndromes and other potentially pathogenic non-synonymous variants are reported with interpretations.
Methodology Next Generation Sequencing
Performed Mon-Fri
Turnaround 6-8 weeks from receipt of specimen
Specimen Requirements **Primary specimen required: tissue from the affected area.  Formalin fixed paraffin embedded affected tissue; fresh affected tissue in transport or tissue culture media; buccal swab.  Secondary specimen for comparative study: peripheral blood.
Sample Collection Routine Tissue Block: One (1) formalin fixed paraffin embedded (FFPE) block containing affected tissue. Peripheral Blood: One (1) EDTA (lavender top) tube containing 2-5 mL.
Mininum Sample Volume
Storage/Transport Conditions FFPE blocks: ambient /room temperature. Place in a sealed container (bag). Place primary container in a padded envelope. Recommend shipping by overnight. In seasonal warmer weather, include cold pack (DO NOT FREEZE).; Blood: Ambient / room temperature preferred. However, if delivery / shipment of specimen is greater than four (4) hours, refrigerate at 4 degrees until delivery / shipment by overnight delivery. In seasonal warmer weather, include cold pack (DO NOT FREEZE).
Unacceptable Conditions Specimens processed using acid decalcification are not acceptable (EDTA is acceptable)
Special Instructions
CPT Code(s) 81406
Miscellaneous
Lab Area/Performed By GPS

McCune Albright Gene Set

Requisition GPS SOMA Sequencing Requisition
Test Components Next generation sequencing of all coding regions of GNAS.
Test Details Extraction of DNA, capture of the genes to be assayed, and sequencing of the entire coding region and select introns on the Illumina platform. Identified variants previously described in McCune Albright and related syndromes and other potentially pathogenic non-synonymous variants are reported with interpretations.
Methodology Next Generation Sequencing
Performed Mon-Fri
Turnaround 6-8 weeks from receipt of specimen
Specimen Requirements Formalin fixed paraffin embedded affected tissue; fresh affected tisse in transport or tissue culture media; peripheral blood.
Sample Collection Routine Tissue Block: One (1) formalin fixed paraffin embedded (FFPE) block containing affected tissue. Peripheral Blood: One (1) EDTA (lavender top) tube containing 2-5 mL.
Mininum Sample Volume
Storage/Transport Conditions FFPE blocks: ambient /room temperature. Place in a sealed container (bag). Place primary container in a padded envelope. Recommend shipping by overnight. In seasonal warmer weather, include cold pack (DO NOT FREEZE).; Blood: Ambient / room temperature preferred. However, if delivery / shipment of specimen is greater than four (4) hours, refrigerate at 4 degrees until delivery / shipment by overnight delivery. In seasonal warmer weather, include cold pack (DO NOT FREEZE).
Unacceptable Conditions Specimens processed using acid decalcification are not acceptable (EDTA is acceptable)
Special Instructions
CPT Code(s) 81406
Miscellaneous
Lab Area/Performed By GPS

Nevus Gene Set

Requisition SOMA Sequencing Requisition
Test Components Next generation sequencing of all coding regions of 11 genes: BRAF, FGFR1, FGFR3, GNA11, GNAQ, HRAS, KRAS, MAP3K3, NRAS, PIK3CA and TEK.
Test Details Extraction of DNA, capture of the genes to be assayed, and sequencing of the entire coding region and select introns on the Illumina platform. Identified variants previously described in segmental overgrowth and related syndromes and other potentially pathogenic non-synonymous variants are reported with interpretations.
Methodology Next Generation Sequencing
Performed Mon-Fri
Turnaround 6-8 weeks from receipt of specimen
Specimen Requirements **Primary specimen required: tissue from the affected area.  Formalin fixed paraffin embedded affected tissue; fresh affected tissue in transport or tissue culture media; buccal swab.  Secondary specimen for comparative study: peripheral blood.
Sample Collection Routine Tissue Block: One (1) formalin fixed paraffin embedded (FFPE) block containing affected tissue. Peripheral Blood: One (1) EDTA (lavender top) tube containing 2-5 mL.
Mininum Sample Volume
Storage/Transport Conditions FFPE blocks: ambient /room temperature. Place in a sealed container (bag). Place primary container in a padded envelope. Recommend shipping by overnight. In seasonal warmer weather, include cold pack (DO NOT FREEZE).; Blood: Ambient / room temperature preferred. However, if delivery / shipment of specimen is greater than four (4) hours, refrigerate at 4 degrees until delivery / shipment by overnight delivery. In seasonal warmer weather, include cold pack (DO NOT FREEZE).
Unacceptable Conditions Specimens processed using acid decalcification are not acceptable (EDTA is acceptable)
Special Instructions
CPT Code(s) 81407
Miscellaneous
Lab Area/Performed By GPS

Curry-Jones Gene Set

Requisition SOMA Sequencing Requisition
Test Components Next generation sequencing of all coding regions of SMO.
Test Details Extraction of DNA, capture of the genes to be assayed, and sequencing of the entire coding region and select introns on the Illumina platform. Identified variants previously described in Curry-Jones Syndrome, segmental overgrowth, and other potentially pathogenic non-synonymous variants are reported with interpretations.
Methodology Next Generation Sequencing
Performed Mon-Fri
Turnaround 6-8 weeks from receipt of specimen
Specimen Requirements **Primary specimen required: tissue from the affected area.  Formalin fixed paraffin embedded affected tissue; fresh affected tissue in transport or tissue culture media; buccal swab.  Secondary specimen for comparative study: peripheral blood.
Sample Collection Routine Tissue Block: One (1) formalin fixed paraffin embedded (FFPE) block containing affected tissue. Peripheral Blood: One (1) EDTA (lavender top) tube containing 2-5 mL.
Mininum Sample Volume
Storage/Transport Conditions FFPE blocks: ambient /room temperature. Place in a sealed container (bag). Place primary container in a padded envelope. Recommend shipping by overnight. In seasonal warmer weather, include cold pack (DO NOT FREEZE).; Blood: Ambient / room temperature preferred. However, if delivery / shipment of specimen is greater than four (4) hours, refrigerate at 4 degrees until delivery / shipment by overnight delivery. In seasonal warmer weather, include cold pack (DO NOT FREEZE).
Unacceptable Conditions Specimens processed using acid decalcification are not acceptable (EDTA is acceptable)
Special Instructions
CPT Code(s) 81406
Miscellaneous
Lab Area/Performed By GPS

Maffucci Syndrome Gene Set

Requisition SOMA Sequencing Requisition
Test Components Next generation sequencing of all coding regions of 2 genes: IDH1 and IDH2.
Test Details Extraction of DNA, capture of the genes to be assayed, and sequencing of the entire coding region and select introns on the Illumina platform. Identified variants previously described in Maffucci Syndrome, Ollier Disease and other potentially pathogenic non-synonymous variants are reported with interpretations.
Methodology Next Generation Sequencing
Performed Mon-Fri
Turnaround 6-8 weeks from receipt of specimen
Specimen Requirements **Primary specimen required: tissue from the affected area.  Formalin fixed paraffin embedded affected tissue; fresh affected tissue in transport or tissue culture media; buccal swab.  Secondary specimen for comparative study: peripheral blood.
Sample Collection Routine Tissue Block: One (1) formalin fixed paraffin embedded (FFPE) block containing affected tissue. Peripheral Blood: One (1) EDTA (lavender top) tube containing 2-5 mL.
Mininum Sample Volume
Storage/Transport Conditions FFPE blocks: ambient /room temperature. Place in a sealed container (bag). Place primary container in a padded envelope. Recommend shipping by overnight. In seasonal warmer weather, include cold pack (DO NOT FREEZE).; Blood: Ambient / room temperature preferred. However, if delivery / shipment of specimen is greater than four (4) hours, refrigerate at 4 degrees until delivery / shipment by overnight delivery. In seasonal warmer weather, include cold pack (DO NOT FREEZE).
Unacceptable Conditions Specimens processed using acid decalcification are not acceptable (EDTA is acceptable)
Special Instructions
CPT Code(s) 81406
Miscellaneous
Lab Area/Performed By GPS

Rasopathies Gene Set

Requisition SOMA Sequencing Requisition
Test Components Next generation sequencing of all coding regions of 14 genes: BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RAF1, RIT1, SHOC2, SOS1 and SPRED1.
Test Details Extraction of DNA, capture of the genes to be assayed, and sequencing of the entire coding region and select introns on the Illumina platform. Identified variants previously described in Rasopathies and other potentially pathogenic non-synonymous variants are reported with interpretations.
Methodology Next Generation Sequencing
Performed Mon-Fri
Turnaround 6-8 weeks from receipt of specimen
Specimen Requirements **Primary specimen required: tissue from the affected area.  Formalin fixed paraffin embedded affected tissue; fresh affected tissue in transport or tissue culture media; buccal swab.  Secondary specimen for comparative study: peripheral blood.
Sample Collection Routine Tissue Block: One (1) formalin fixed paraffin embedded (FFPE) block containing affected tissue. Peripheral Blood: One (1) EDTA (lavender top) tube containing 2-5 mL.
Mininum Sample Volume
Storage/Transport Conditions FFPE blocks: ambient /room temperature. Place in a sealed container (bag). Place primary container in a padded envelope. Recommend shipping by overnight. In seasonal warmer weather, include cold pack (DO NOT FREEZE).; Blood: Ambient / room temperature preferred. However, if delivery / shipment of specimen is greater than four (4) hours, refrigerate at 4 degrees until delivery / shipment by overnight delivery. In seasonal warmer weather, include cold pack (DO NOT FREEZE).
Unacceptable Conditions Specimens processed using acid decalcification are not acceptable (EDTA is acceptable)
Special Instructions
CPT Code(s) 81442
Miscellaneous
Lab Area/Performed By GPS

Cardiac Disease

CardioGene Set

Requisition GPS Cardiac Sequencing Requisition
Test Components Next generation sequencing of all coding regions of 164 genes: A2ML1, ABCC9, ACADVL, ACTA1, ACTA2, ACTC1, ACTN2, AGL, AKAP9, ALMS1, ALPK3, ANK2, ANKRD1, BAG3, BRAF, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CALR3, CASQ2, CAV3, CBL, CHRM2, COL3A1, COL5A2, CPT2, CRYAB, CSRP3, CTF1, CTNNA3, DES, DMD, DNAJC19, DOLK, DSC2, DSG2, DSP, DTNA, EFEMP2, ELAC2, EMD, EYA4, FBN1, FBN2, FHL1, FHL2, FKRP, FKTN, FLNC, GAA, GATA4, GATA6, GATAD1, GLA, GPD1L, HCN4, HFE, HRAS, ILK, JPH2, JUP, KCND3, KCNE1, KCNE2, KCNE3, KCNE5 (KCNE1L), KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, KRAS, LAMA4, LAMP2, LDB3, LMNA, LOX, LRRC10, MAP2K1, MAP2K2, MIB1, MTO1, MURC (CAVIN4), MYBPC3, MYH6, MYH7, MYH11, MYL2, MYL3, MYLK, MYLK2, MYOM1, MYOZ2, MYPN, NEBL, NEXN, NF1, NKX2-5, NOTCH1, NPPA, NRAS, PDLIM3, PKP2, PLEKHM2, PLN, PRDM16, PRKAG2, PTPN11, RAF1, RANGRF, RASA1, RBM20, RIT1, RRAS, RYR1, RYR2, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCN10A, SDHA, SEPN1 (SELENON), SGCD, SGCG, SHOC2, SLC22A5, SCL25A4, SLC2A1, SLC2A10, SLMAP, SMAD3, SMAD4, SNTA1, SOS1, SOS2, SPRED1, TAZ, TBX20, TCAP, TGFB2, TGFB3, TGFBR1, TGFBR2, TMEM43, TMEM70, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TRIM63, TRPM4, TTN, TTR, TXNRD2, VCL, YWHAE and ZBTB17.
Test Details Extraction of DNA, capture of the genes to be assayed, and sequencing on the Illumina platform. Identified variants are categorized using the ACMG/AMP guidelines for the interpretation of sequence variants. An interpretation of results is provided based on the medical literature and in the context of the indication for testing.
Methodology Next Generation Sequencing
Performed Mon-Fri
Turnaround 4-6 weeks from receipt of specimen
Specimen Requirements Peripheral blood
Sample Collection 1 EDTA (lavender top) tube containing 2-5 mL peripheral blood
Mininum Sample Volume 2 ml
Storage/Transport Conditions Ambient / room temperature preferred. However, if delivery / shipment of specimen is greater than four (4) hours, refrigerate at 4 degrees until delivery / shipment by overnight delivery. In seasonal warmer weather, include cold pack (DO NOT FREEZE).
Unacceptable Conditions Frozen specimens, use of inappropriate tube type, and clotted or hemolyzed specimens.
Special Instructions
CPT Code(s) 81407
Miscellaneous
Lab Area/Performed By GPS

Arrhythmia Gene Set

Requisition GPS Cardiac Sequencing Requisition
Test Components Next generation sequencing of all coding regions of 35 genes: AKAP9, ANK2, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, GPD1L, HCN4, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, PKP2, RANGRF, RYR2, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCN10A, SLMAP, SNTA1, TRDN and TRPM4.
Test Details Extraction of DNA, capture of the genes to be assayed, and sequencing on the Illumina platform. Identified variants are categorized using the ACMG/AMP guidelines for the interpretation of sequence variants. An interpretation of results is provided based on the medical literature and in the context of the indication for testing.
Methodology Next Generation Sequencing
Performed Mon-Fri
Turnaround 4-6 weeks from receipt of specimen
Specimen Requirements Peripheral blood
Sample Collection 1 EDTA (lavender top) tube containing 2-5 mL peripheral blood
Mininum Sample Volume 2 ml
Storage/Transport Conditions Ambient / room temperature preferred. However, if delivery / shipment of specimen is greater than four (4) hours, refrigerate at 4 degrees until delivery / shipment by overnight delivery. In seasonal warmer weather, include cold pack (DO NOT FREEZE).
Unacceptable Conditions Frozen specimens, use of inappropriate tube type, and clotted or hemolyzed specimens.
Special Instructions
CPT Code(s)

81413

Miscellaneous
Lab Area/Performed By GPS

Brugada Syndrome Gene Set

Requisition GPS Cardiac Sequencing Requisition
Test Components Next generation sequencing of all coding regions of 18 genes: CACNA1C, CACNA2D1, CACNB2, GPD1L, HCN4, KCND3, KCNE3, KCNE5 (KCNE1L), KCNJ8, PKP2, RANGRF, SCN1B, SCN2B, SCN3B, SCN5A, SCN10A, SLMAP and TRPM4.
Test Details Extraction of DNA, capture of the genes to be assayed, and sequencing on the Illumina platform. Identified variants are categorized using the ACMG/AMP guidelines for the interpretation of sequence variants. An interpretation of results is provided based on the medical literature and in the context of the indication for testing.
Methodology Next Generation Sequencing
Performed Mon-Fri
Turnaround 4-6 weeks from receipt of specimen
Specimen Requirements Peripheral blood
Sample Collection 1 EDTA (lavender top) tube containing 2-5 mL peripheral blood
Mininum Sample Volume 2 ml
Storage/Transport Conditions Ambient / room temperature preferred. However, if delivery / shipment of specimen is greater than four (4) hours, refrigerate at 4 degrees until delivery / shipment by overnight delivery. In seasonal warmer weather, include cold pack (DO NOT FREEZE).
Unacceptable Conditions Frozen specimens, use of inappropriate tube type, and clotted or hemolyzed specimens.
Special Instructions
CPT Code(s) 81413
Miscellaneous
Lab Area/Performed By GPS

Catecholaminergic polymorphic ventricular tachycardia (CPVT) Gene Set

Requisition GPS Cardiac Sequencing Requisition
Test Components Next generation sequencing of all coding regions of 8 genes: ANK2, CALM1, CALM2, CALM3, CASQ2, KCNJ2, RYR2 and TRDN.
Test Details Extraction of DNA, capture of the genes to be assayed, and sequencing on the Illumina platform. Identified variants are categorized using the ACMG/AMP guidelines for the interpretation of sequence variants. An interpretation of results is provided based on the medical literature and in the context of the indication for testing.
Methodology Next Generation Sequencing
Performed Mon-Fri
Turnaround 4-6 weeks from receipt of specimen
Specimen Requirements Peripheral blood
Sample Collection 1 EDTA (lavender top) tube containing 2-5 mL peripheral blood
Mininum Sample Volume 2 ml
Storage/Transport Conditions Ambient / room temperature preferred. However, if delivery / shipment of specimen is greater than four (4) hours, refrigerate at 4 degrees until delivery / shipment by overnight delivery. In seasonal warmer weather, include cold pack (DO NOT FREEZE).
Unacceptable Conditions Frozen specimens, use of inappropriate tube type, and clotted or hemolyzed specimens.
Special Instructions
CPT Code(s) 81407
Miscellaneous
Lab Area/Performed By GPS

Long QT Syndrome Gene Set

Requisition GPS Cardiac Sequencing Requisition
Test Components Next generation sequencing of all coding regions of 16 genes: AKAP9, ANK2, CACNA1C, CALM2, CALM3, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, SCN4B, SCN5A, SNTA1 and TRDN.
Test Details Extraction of DNA, capture of the genes to be assayed, and sequencing on the Illumina platform. Identified variants are categorized using the ACMG/AMP guidelines for the interpretation of sequence variants. An interpretation of results is provided based on the medical literature and in the context of the indication for testing.
Methodology Next Generation Sequencing
Performed Mon-Fri
Turnaround 4-6 weeks from receipt of specimen
Specimen Requirements Peripheral blood
Sample Collection 1 EDTA (lavender top) tube containing 2-5 mL peripheral blood
Mininum Sample Volume 2 ml
Storage/Transport Conditions Ambient / room temperature preferred. However, if delivery / shipment of specimen is greater than four (4) hours, refrigerate at 4 degrees until delivery / shipment by overnight delivery. In seasonal warmer weather, include cold pack (DO NOT FREEZE).
Unacceptable Conditions Frozen specimens, use of inappropriate tube type, and clotted or hemolyzed specimens.
Special Instructions
CPT Code(s) 81413
Miscellaneous
Lab Area/Performed By GPS

Short QT Syndrome Gene Set

Requisition GPS Cardiac Sequencing Requisition
Test Components Next generation sequencing of all coding regions of 6 genes: CACNA1C, CACNA2D1, CACNB2, KCNH2, KCNJ2 and KCNQ1.
Test Details Extraction of DNA, capture of the genes to be assayed, and sequencing on the Illumina platform. Identified variants are categorized using the ACMG/AMP guidelines for the interpretation of sequence variants. An interpretation of results is provided based on the medical literature and in the context of the indication for testing.
Methodology Next Generation Sequencing
Performed Mon-Fri
Turnaround 4-6 weeks from receipt of specimen
Specimen Requirements Peripheral blood
Sample Collection 1 EDTA (lavender top) tube containing 2-5 mL peripheral blood
Mininum Sample Volume 2 ml
Storage/Transport Conditions Ambient / room temperature preferred. However, if delivery / shipment of specimen is greater than four (4) hours, refrigerate at 4 degrees until delivery / shipment by overnight delivery. In seasonal warmer weather, include cold pack (DO NOT FREEZE).
Unacceptable Conditions Frozen specimens, use of inappropriate tube type, and clotted or hemolyzed specimens.
Special Instructions
CPT Code(s) 81407
Miscellaneous
Lab Area/Performed By GPS

Cardiomyopathy Gene Set

Requisition GPS Cardiac Sequencing Requisition
Test Components Next generation sequencing of all coding regions of 115 genes: A2ML1, ABCC9, ACADVL, ACTA1, ACTC1, ACTN2, AGL, ALMS1, ALPK3, ANKRD1, BAG3, BRAF, CALR3, CASQ2, CBL, CHRM2, CPT2, CRYAB, CSRP3, CTF1, CTNNA3, DES, DMD, DNAJC19, DOLK, DSC2, DSG2, DSP, DTNA, ELAC2, EMD, EYA4, FHL1, FHL2, FKRP, FKTN, FLNC, GAA, GATA4, GATA6, GATAD1, GLA, HFE, HRAS, ILK, JPH2, JUP, KRAS, LAMA4, LAMP2, LDB3, LMNA, LRRC10, MAP2K1, MAP2K2, MIB1, MTO1, MURC (CAVIN4), MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOM1, MYOZ2, MYPN, NEBL, NEXN, NF1, NKX2-5, NPPA, NRAS, PDLIM3, PKP2, PLEKHM2, PLN, PRDM16, PRKAG2, PTPN11, RAF1, RASA1, RBM20, RIT1, RRAS, RYR1, RYR2, SCN5A, SDHA, SEPN1 (SELENON), SGCD, SGCG, SHOC2, SLC22A5, SLC25A4, SOS1, SOS2, SPRED1, TAZ, TBX20, TCAP, TMEM43, TMEM70, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TRIM63, TTN, TTR, TXNRD2, VCL, YWHAE and ZBTB17.
Test Details Extraction of DNA, capture of the genes to be assayed, and sequencing on the Illumina platform. Identified variants are categorized using the ACMG/AMP guidelines for the interpretation of sequence variants. An interpretation of results is provided based on the medical literature and in the context of the indication for testing.
Methodology Next Generation Sequencing
Performed Mon-Fri
Turnaround 4-6 weeks from receipt of specimen
Specimen Requirements Peripheral blood
Sample Collection 1 EDTA (lavender top) tube containing 2-5 mL peripheral blood
Mininum Sample Volume 2 ml
Storage/Transport Conditions Ambient / room temperature preferred. However, if delivery / shipment of specimen is greater than four (4) hours, refrigerate at 4 degrees until delivery / shipment by overnight delivery. In seasonal warmer weather, include cold pack (DO NOT FREEZE).
Unacceptable Conditions Frozen specimens, use of inappropriate tube type, and clotted or hemolyzed specimens.
Special Instructions
CPT Code(s) 81439
Miscellaneous
Lab Area/Performed By GPS

Arrhythmogenic right ventricular cardiomyopathy (ARVC) Gene Set

Requisition GPS Cardiac Sequencing Requisition
Test Components Next generation sequencing of all coding regions of 11 genes: CTNNA3, DES, DSC2, DSG2, DSP, JUP, PDLIM3, PKP2, RYR1, RYR2 and TMEM43.
Test Details Extraction of DNA, capture of the genes to be assayed, and sequencing on the Illumina platform. Identified variants are categorized using the ACMG/AMP guidelines for the interpretation of sequence variants. An interpretation of results is provided based on the medical literature and in the context of the indication for testing.
Methodology Next Generation Sequencing
Performed Mon-Fri
Turnaround 4-6 weeks from receipt of specimen
Specimen Requirements Peripheral blood
Sample Collection 1 EDTA (lavender top) tube containing 2-5 mL peripheral blood
Mininum Sample Volume 2 ml
Storage/Transport Conditions Ambient / room temperature preferred. However, if delivery / shipment of specimen is greater than four (4) hours, refrigerate at 4 degrees until delivery / shipment by overnight delivery. In seasonal warmer weather, include cold pack (DO NOT FREEZE).
Unacceptable Conditions Frozen specimens, use of inappropriate tube type, and clotted or hemolyzed specimens.
Special Instructions
CPT Code(s) 81439
Miscellaneous
Lab Area/Performed By GPS

Dilated cardiomyopathy (DCM) Gene Set

Requisition GPS Cardiac Sequencing Requisition
Test Components Next generation sequencing of all coding regions of 67 genes: ABCC9, ACADVL, ACTA1, ACTC1, ACTN2, ALMS1, ALPK3, ANKRD1, BAG3, CBL, CHRM2, CPT2, CRYAB, CSRP3, CTF1, DES, DMD, DNAJC19, DOLK, EMD, EYA4, FHL1, FHL2, FKRP, FKTN, FLNC, GATA4, GATA6, GATAD1, HFE, ILK, LAMP2, LDB3, LMNA, LRRC10, MURC (CAVIN4), MYBPC3, MYH6, MYH7, MYPN, NEBL, NEXN, NKX2-5, NPPA, PDLIM3, PLEKHM2, PLN, RBM20, SCN5A, SDHA, SEPN1 (SELENON), SGCD, SGCG, SLC22A5, TAZ, TBX20, TCAP, TMEM70, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, TXNRD2, VCL and ZBTB17.
Test Details Extraction of DNA, capture of the genes to be assayed, and sequencing on the Illumina platform. Identified variants are categorized using the ACMG/AMP guidelines for the interpretation of sequence variants. An interpretation of results is provided based on the medical literature and in the context of the indication for testing.
Methodology Next Generation Sequencing
Performed Mon-Fri
Turnaround 4-6 weeks from receipt of specimen
Specimen Requirements Peripheral blood
Sample Collection 1 EDTA (lavender top) tube containing 2-5 mL peripheral blood
Mininum Sample Volume 2 ml
Storage/Transport Conditions Ambient / room temperature preferred. However, if delivery / shipment of specimen is greater than four (4) hours, refrigerate at 4 degrees until delivery / shipment by overnight delivery. In seasonal warmer weather, include cold pack (DO NOT FREEZE).
Unacceptable Conditions Frozen specimens, use of inappropriate tube type, and clotted or hemolyzed specimens.
Special Instructions
CPT Code(s) 81439
Miscellaneous
Lab Area/Performed By GPS

Hypertrophic cardiomyopathy (HCM) Gene Set

Requisition GPS Cardiac Sequencing Requisition
Test Components Next generation sequencing of all coding regions of 62 genes: A2ML1, ACADVL, ACTA1, ACTC1, ACTN2, AGL, ALPK3, BRAF, CALR3, CBL, CPT2, CRYAB, CSRP3, ELAC2, FLNC, GAA, GATA4, GLA, HFE, HRAS, JPH2, KRAS, LAMP2, MAP2K1, MAP2K2, MTO1, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOM1, MYOZ2, MYPN, NEXN, NF1, NPPA, NRAS, PDLIM3, PLN, PRKAG2, PTPN11, RAF1, RASA1, RIT1, RRAS, SEPN1 (SELENON), SGCG, SHOC2, SLC22A5, SLC25A4, SOS1, SOS2, SPRED1, TNNC1, TNNI3, TNNT2, TPM1, TRIM63, TTR and ZBTB17
Test Details Extraction of DNA, capture of the genes to be assayed, and sequencing on the Illumina platform. Identified variants are categorized using the ACMG/AMP guidelines for the interpretation of sequence variants. An interpretation of results is provided based on the medical literature and in the context of the indication for testing.
Methodology Next Generation Sequencing
Performed Mon-Fri
Turnaround 4-6 weeks from receipt of specimen
Specimen Requirements Peripheral blood
Sample Collection 1 EDTA (lavender top) tube containing 2-5 mL peripheral blood
Mininum Sample Volume 2 ml
Storage/Transport Conditions Ambient / room temperature preferred. However, if delivery / shipment of specimen is greater than four (4) hours, refrigerate at 4 degrees until delivery / shipment by overnight delivery. In seasonal warmer weather, include cold pack (DO NOT FREEZE).
Unacceptable Conditions Frozen specimens, use of inappropriate tube type, and clotted or hemolyzed specimens.
Special Instructions
CPT Code(s) 81439
Miscellaneous
Lab Area/Performed By GPS

Left ventricular noncompaction (LNVC) Gene Set

Requisition GPS Cardiac Sequencing Requisition
Test Components Next generation sequencing of all coding regions of 15 genes: ACTC1, CASQ2, DNAJC19, DTNA, LAMA4, LDB3, LMNA, MIB1, MYBPC3, MYH7, PRDM16, TAZ, TNNT2, VCL and YWHAE.
Test Details Extraction of DNA, capture of the genes to be assayed, and sequencing on the Illumina platform. Identified variants are categorized using the ACMG/AMP guidelines for the interpretation of sequence variants. An interpretation of results is provided based on the medical literature and in the context of the indication for testing.
Methodology Next Generation Sequencing
Performed Mon-Fri
Turnaround 4-6 weeks from receipt of specimen
Specimen Requirements Peripheral blood
Sample Collection 1 EDTA (lavender top) tube containing 2-5 mL peripheral blood
Mininum Sample Volume 2 ml
Storage/Transport Conditions Ambient / room temperature preferred. However, if delivery / shipment of specimen is greater than four (4) hours, refrigerate at 4 degrees until delivery / shipment by overnight delivery. In seasonal warmer weather, include cold pack (DO NOT FREEZE).
Unacceptable Conditions Frozen specimens, use of inappropriate tube type, and clotted or hemolyzed specimens.
Special Instructions
CPT Code(s) 81439
Miscellaneous
Lab Area/Performed By GPS

Thoracic Aortic Aneurysm and Dissection (TAAD) Gene Set

Requisition GPS Cardiac Sequencing Requisition
Test Components Next generation sequencing of all coding regions of 18 genes: ACTA2, COL3A1, COL5A2, EFEMP2, FBN1, FBN2, LOX, MYH11, MYLK, NOTCH1, SLC2A1, SLC2A10, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1 and TGFBR2.
Test Details Extraction of DNA, capture of the genes to be assayed, and sequencing on the Illumina platform. Identified variants are categorized using the ACMG/AMP guidelines for the interpretation of sequence variants. An interpretation of results is provided based on the medical literature and in the context of the indication for testing.
Methodology Next Generation Sequencing
Performed Mon-Fri
Turnaround 4-6 weeks from receipt of specimen
Specimen Requirements Peripheral blood
Sample Collection 1 EDTA (lavender top) tube containing 2-5 mL peripheral blood
Mininum Sample Volume 2 ml
Storage/Transport Conditions Ambient / room temperature preferred. However, if delivery / shipment of specimen is greater than four (4) hours, refrigerate at 4 degrees until delivery / shipment by overnight delivery. In seasonal warmer weather, include cold pack (DO NOT FREEZE).
Unacceptable Conditions Frozen specimens, use of inappropriate tube type, and clotted or hemolyzed specimens.
Special Instructions
CPT Code(s) 81439
Miscellaneous
Lab Area/Performed By GPS

Diabetes, Hyperinsulinism and ER Stress

Rare and Atypical Diabetes Gene Set
Requisition Diabetes Sequencing Requisition
Test Components Next generation sequencing of all coding regions of 53 genes: ABCC8, AGPAT2, AIRE, APPL1, AKT2, BLK, CACNA1D, CEL, CISD2, CP, EIF2AK3, FOXA2, FOXP3, GATA4, GATA6, GCK, GLIS3, GLUD1, HADH, HFE, HNF1A, HNF1B, HNF4A, IER3IP1, INS, INSR, KCNJ11, KDM6A, KLF11, KMT2D, LRBA, MNX1, NEUROD1, NEUROG3, NKX2-2, PAX6, PAX4, PCBD1, PDX1, PGM1, PLAGL1, PPARG, PTF1A, RFX6, PMM2, SLC2A2, SLC16A1, SLC19A2, STAT3, TRMT10A, UCP2, WFS1 and ZFP57.
Test Details Extraction of DNA, capture of the genes to be assayed, and sequencing on the Illumina platform. Identified variants are categorized using the ACMG/AMP guidelines for the interpretation of sequence variants. An interpretation of results is provided based on the medical literature and in the context of the indication for testing.
Methodology Next Generation Sequencing/CGH array
Performed Mon-Fri
Turnaround 4-6 weeks from receipt of specimen; 6 additional weeks for del/dup analysis.
Specimen Requirements Peripheral blood
Sample Collection 1 EDTA (lavender top) tube containing 2-5 mL peripheral blood
Mininum Sample Volume 2 ml
Storage/Transport Conditions Ambient / room temperature preferred. However, if delivery / shipment of specimen is greater than four (4) hours, refrigerate at 4 degrees until delivery / shipment by overnight delivery. In seasonal warmer weather, include cold pack (DO NOT FREEZE).
Unacceptable Conditions Frozen specimens, use of inappropriate tube type, and clotted or hemolyzed specimens.
Special Instructions
CPT Code(s) 81407 (NGS); 81404 (CGH array)
Miscellaneous
Lab Area/Performed By GPS

Endoplasmic Reticulum (ER) Stress Gene Set

Requisition Diabetes Sequencing Requisition
Test Components Next generation sequencing of all coding regions of 5 genes: CISD2, EIF2AK3, IER3IP1, INS and WFS1.</
Test Details Extraction of DNA, capture of the genes to be assayed, and sequencing on the Illumina platform. Identified variants are categorized using the ACMG/AMP guidelines for the interpretation of sequence variants. An interpretation of results is provided based on the medical literature and in the context of the indication for testing.
Methodology Next Generation Sequencing
Performed Mon-Fri
Turnaround 4-6 weeks from receipt of specimen
Specimen Requirements Peripheral blood
Sample Collection 1 EDTA (lavender top) tube containing 2-5 mL peripheral blood
Mininum Sample Volume 2 ml
Storage/Transport Conditions Ambient / room temperature preferred. However, if delivery / shipment of specimen is greater than four (4) hours, refrigerate at 4 degrees until delivery / shipment by overnight delivery. In seasonal warmer weather, include cold pack (DO NOT FREEZE).
Unacceptable Conditions Frozen specimens, use of inappropriate tube type, and clotted or hemolyzed specimens.
Special Instructions
CPT Code(s) 81407
Miscellaneous
Lab Area/Performed By GPS

Hyperinsulinsism Gene Set

Requisition Diabetes Sequencing Requisition
Test Components Next generation sequencing of all coding regions of 18 genes: ABCC8, AKT2, CACNA1D, FOXA2, GCK, GLUD1, HADH, HNF1A, HNF4A, INSR, KCNJ11, KDM6A, KMT2D, PGM1, PMM2, SLC16A1, TRMT10A and UCP2.</
Test Details Extraction of DNA, capture of the genes to be assayed, and sequencing on the Illumina platform. Identified variants are categorized using the ACMG/AMP guidelines for the interpretation of sequence variants. An interpretation of results is provided based on the medical literature and in the context of the indication for testing.
Methodology Next Generation Sequencing
Performed Mon-Fri
Turnaround 4-6 weeks from receipt of specimen
Specimen Requirements Peripheral blood
Sample Collection 1 EDTA (lavender top) tube containing 2-5 mL peripheral blood
Mininum Sample Volume 2 ml
Storage/Transport Conditions Ambient / room temperature preferred. However, if delivery / shipment of specimen is greater than four (4) hours, refrigerate at 4 degrees until delivery / shipment by overnight delivery. In seasonal warmer weather, include cold pack (DO NOT FREEZE).
Unacceptable Conditions Frozen specimens, use of inappropriate tube type, and clotted or hemolyzed specimens.
Special Instructions
CPT Code(s) 81407
Miscellaneous
Lab Area/Performed By GPS

Permanent Neonatal Diabetes Mellitus (PNDM) Gene Set

Requisition Diabetes Sequencing Requisition
Test Components Next generation sequencing of all coding regions of 29 genes: ABCC8, CP, EIF2AK3, FOXP3, GATA4, GATA6, GCK, GLIS3, HNF1B, IER3IP1, INS, KCNJ11, LRBA, MNX1, NEUROD1, NEUROG3, NKX2-2, PAX6, PCBD1, PDX1, PLAGL1, PTF1A, RFX6, SLC2A2, SLC19A2, STAT3, TRMT10A, WFS1 and ZFP57.</
Test Details Extraction of DNA, capture of the genes to be assayed, and sequencing on the Illumina platform. Identified variants are categorized using the ACMG/AMP guidelines for the interpretation of sequence variants. An interpretation of results is provided based on the medical literature and in the context of the indication for testing.
Methodology Next Generation Sequencing
Performed Mon-Fri
Turnaround 4-6 weeks from receipt of specimen
Specimen Requirements Peripheral blood
Sample Collection 1 EDTA (lavender top) tube containing 2-5 mL peripheral blood
Mininum Sample Volume 2 ml
Storage/Transport Conditions Ambient / room temperature preferred. However, if delivery / shipment of specimen is greater than four (4) hours, refrigerate at 4 degrees until delivery / shipment by overnight delivery. In seasonal warmer weather, include cold pack (DO NOT FREEZE).
Unacceptable Conditions Frozen specimens, use of inappropriate tube type, and clotted or hemolyzed specimens.
Special Instructions
CPT Code(s) 81407
Miscellaneous
Lab Area/Performed By GPS

Monogenic Diabetes and MODY Gene Set

Requisition Diabetes Sequencing Requisition
Test Components Next generation sequencing of all coding regions of 43 genes: ABCC8, AGPAT2, AIRE, APPL1, AKT2, BLK, CEL, CISD2, CP, EIF2AK3, FOXP3, GATA4, GATA6, GCK, GLIS3, HFE, HNF1A, HNF1B, HNF4A, IER3IP1, INS, INSR, KCNJ11, KLF11, LRBA, MNX1, NEUROD1, NEUROG3, NKX2-2, PAX4, PAX6, PCBD1, PDX1, PLAGL1, PPARG, PTF1A, RFX6, SLC2A2, SLC19A2, STAT3, TRMT10A, WFS1 and ZFP57.</</
Test Details Extraction of DNA, capture of the genes to be assayed, and sequencing on the Illumina platform. Identified variants are categorized using the ACMG/AMP guidelines for the interpretation of sequence variants. An interpretation of results is provided based on the medical literature and in the context of the indication for testing.
Methodology Next Generation Sequencing
Performed Mon-Fri
Turnaround 4-6 weeks from receipt of specimen
Specimen Requirements Peripheral blood
Sample Collection 1 EDTA (lavender top) tube containing 2-5 mL peripheral blood
Mininum Sample Volume 2 ml
Storage/Transport Conditions Ambient / room temperature preferred. However, if delivery / shipment of specimen is greater than four (4) hours, refrigerate at 4 degrees until delivery / shipment by overnight delivery. In seasonal warmer weather, include cold pack (DO NOT FREEZE).
Unacceptable Conditions Frozen specimens, use of inappropriate tube type, and clotted or hemolyzed specimens.
Special Instructions
CPT Code(s) 81407
Miscellaneous
Lab Area/Performed By GPS

Neutropenia

Severe Congenital Neutropenia Gene Set
Requisition GPS Neutropenia Sequencing Requisition
Test Components Next generation sequencing of all coding regions of 48 genes: AK2, AP3B1, ASXL1, CD40LG, CLPB, CSF3R, CXCR2, CXCR4, DNAJC21, DNM2, DOCK2, EFL1, EIF2AK3, ELANE, G6PC3, GATA1, GATA2, GFI1, GINS1, HAX1, IRAK4, JAGN1, KAT6A, KRAS, LAMTOR2, LYST, MYD88, NRAS, PGM3, PSTPIP1, RAB27A, RAC2, RUNX1, SBDS, SLC37A4, SMARCD2, SRP54, STK4, TAZ, TCIRG1, TCN2, TP53, USB1, VPS13B, VPS45, WAS, WDR1 and WIPF1. For some cases with negative results or isolated heterozygous mutations, additional deletion/duplication analysis by CGH array is performed.
Test Details Extraction of DNA, capture of the genes to be assayed, and sequencing on the Illumina platform. Identified variants are categorized using the ACMG/AMP guidelines for the interpretation of sequence variants. An interpretation of results is provided based on the medical literature and in the context of the indication for testing.
Methodology Next Generation Sequencing/CGH array
Performed Mon-Fri
Turnaround 4-6 weeks from receipt of specimen; 6 additional weeks for del/dup analysis.
Specimen Requirements Peripheral blood
Sample Collection EDTA (lavender top) tube containing 8 mL peripheral blood
Mininum Sample Volume 8 ml
Storage/Transport Conditions Ambient / room temperature preferred. However, if delivery / shipment of specimen is greater than four (4) hours, refrigerate at 4 degrees until delivery / shipment by overnight delivery. In seasonal warmer weather, include cold pack (DO NOT FREEZE).
Unacceptable Conditions Frozen specimens, use of inappropriate tube type, and clotted or hemolyzed specimens.
Special Instructions
CPT Code(s) 81407; 81479, 81406 or 81408 (CGH array depending on gene tested)
Miscellaneous
Lab Area/Performed By GPS

Renal Disease

aHUS/TMA/C3 Glomerulopathy Gene Set

Requisition GPS Renal Sequencing Requisition
Test Components Next generation sequencing of all coding regions of 13 genes: ADAMTS13, C3, CD46, CFB, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, DGKE and THBD; CFHR3-CFHR1 deletion by multiplex ligation-dependent probe amplification (MLPA).
Test Details Extraction of DNA, capture of the genes to be assayed, and sequencing on the Illumina platform. Identified variants are categorized using the ACMG/AMP guidelines for the interpretation of sequence variants. An interpretation of results is provided based on the medical literature and in the context of the indication for testing.
Methodology Next Generation Sequencing/MLPA
Performed Mon-Fri
Turnaround 4-6 weeks from receipt of specimen
Specimen Requirements Peripheral blood
Sample Collection 1 EDTA (lavender top) tube containing 2-5 mL peripheral blood
Mininum Sample Volume 2 ml
Storage/Transport Conditions Ambient / room temperature preferred. However, if delivery / shipment of specimen is greater than four (4) hours, refrigerate at 4 degrees until delivery / shipment by overnight delivery. In seasonal warmer weather, include cold pack (DO NOT FREEZE).
Unacceptable Conditions Frozen specimens, use of inappropriate tube type, and clotted or hemolyzed specimens.
Special Instructions
CPT Code(s) 81407; 81479 (MLPA)
Miscellaneous
Lab Area/Performed By GPS

Alport Syndrome Gene Set

Requisition GPS Renal Sequencing Requisition
Test Components Next generation sequencing of all coding regions of 3 genes: COL4A3, COL4A4 and COL4A5.
Test Details Extraction of DNA, capture of the genes to be assayed, and sequencing on the Illumina platform. Identified variants are categorized using the ACMG/AMP guidelines for the interpretation of sequence variants. An interpretation of results is provided based on the medical literature and in the context of the indication for testing.
Methodology Next Generation Sequencing
Performed Mon-Fri
Turnaround 4-6 weeks from receipt of specimen
Specimen Requirements Peripheral blood
Sample Collection 1 EDTA (lavender top) tube containing 2-5 mL peripheral blood
Mininum Sample Volume 2 ml
Storage/Transport Conditions Ambient / room temperature preferred. However, if delivery / shipment of specimen is greater than four (4) hours, refrigerate at 4 degrees until delivery / shipment by overnight delivery. In seasonal warmer weather, include cold pack (DO NOT FREEZE).
Unacceptable Conditions Frozen specimens, use of inappropriate tube type, and clotted or hemolyzed specimens.
Special Instructions
CPT Code(s) 81407
Miscellaneous
Lab Area/Performed By GPS

Cystic disease and Nephronophthisis Gene Set

Requisition GPS Renal Sequencing Requisition
Test Components Next generation sequencing of all coding regions of 33 genes: ACE, AGT, AGTR1, AHI1, BBS10, BICC1, CC2D2A, CEP290, CRB2, DNAJB11, EYA1, GANAB, GLIS2, HNF1B, INVS, IQCB1, MUC1, NEK8, NPHP1, NPHP3, NPHP4, PAX2, PKD1, PKD2, PKHD1, REN, RPGRIP1L, SIX5, TMEM67, TTC21B, UMOD, USH2A and XPNPEP3.
Test Details Extraction of DNA, capture of the genes to be assayed, and sequencing on the Illumina platform. Identified variants are categorized using the ACMG/AMP guidelines for the interpretation of sequence variants. An interpretation of results is provided based on the medical literature and in the context of the indication for testing.
Methodology Next Generation Sequencing
Performed Mon-Fri
Turnaround 4-6 weeks from receipt of specimen
Specimen Requirements Peripheral blood
Sample Collection 1 EDTA (lavender top) tube containing 2-5 mL peripheral blood
Mininum Sample Volume 2 ml
Storage/Transport Conditions Ambient / room temperature preferred. However, if delivery / shipment of specimen is greater than four (4) hours, refrigerate at 4 degrees until delivery / shipment by overnight delivery. In seasonal warmer weather, include cold pack (DO NOT FREEZE).
Unacceptable Conditions Frozen specimens, use of inappropriate tube type, and clotted or hemolyzed specimens.
Special Instructions
CPT Code(s) 81407
Miscellaneous
Lab Area/Performed By GPS

Nephrotic Syndrome and Focal Segmental Glomerulosclerosis Gene Set

Requisition GPS Renal Sequencing Requisition
Test Components Next generation sequencing of all coding regions of 52 genes: ACE, ACTN4, ADCK4 (COQ8B), ANLN, APOL1, ARHGAP24, ARHGDIA, CD2AP, CLCN5, COL4A3, COL4A4, COL4A5, COQ2, COQ6, CRB2, CUBN, EMP2, FAT1, INF2, ITGA3, ITGB4, KANK1, KANK2, KANK4, LAGE3, LAMB2, LMX1B, MAGI2, MEFV, MYH9, MYO1E, NEIL1, NPHS1, NPHS2, NUP10, NUP205, NUP93, OCRL, OSGEP, PDSS2, PLCE1, PTPRO, REN, SCARB2, SMARCAL1, TP53RK, TPRKB, TRPC6, TTC21B, WDR73, WT1 and XPO5.
Test Details Extraction of DNA, capture of the genes to be assayed, and sequencing on the Illumina platform. Identified variants are categorized using the ACMG/AMP guidelines for the interpretation of sequence variants. An interpretation of results is provided based on the medical literature and in the context of the indication for testing.
Methodology Next Generation Sequencing
Performed Mon-Fri
Turnaround 4-6 weeks from receipt of specimen
Specimen Requirements Peripheral blood
Sample Collection 1 EDTA (lavender top) tube containing 2-5 mL peripheral blood
Mininum Sample Volume 2 ml
Storage/Transport Conditions Ambient / room temperature preferred. However, if delivery / shipment of specimen is greater than four (4) hours, refrigerate at 4 degrees until delivery / shipment by overnight delivery. In seasonal warmer weather, include cold pack (DO NOT FREEZE).
Unacceptable Conditions Frozen specimens, use of inappropriate tube type, and clotted or hemolyzed specimens.
Special Instructions
CPT Code(s) 81407
Miscellaneous
Lab Area/Performed By GPS