**Please note that all of our orderable tests include a professional molecular interpretation. Please contact our laboratory if you have additional questions regarding the test interpretation.
Mosaicism Disorders
| Requisition | SOMA Sequencing Requisition |
| Test Components | Next generation sequencing of all coding regions of 39 genes sequenced including ACTB, AKT1, AKT3, ARFGEF2, BRAF, CCM2, CCND2, CDKL5, DCX, DEPDC5, DYNC1H1, FLNA, GABRA1, GABRG2, GRIN2B, KCNQ2, KIF5C, MECP2, MTOR, NACC1, NPRL2, NPRL3, PAFAH1B1, PCDH19, PIK3CA, PIK3R2, PRKACA, PRKACB, PTEN, RHEB, RPS6, SCN1A, SCN2A, SLC35A2, SMO, TSC1, TSC2, TUBA1A and TUBB2B. Also targets a small intronic region of FLNA. |
| Test Details | Extraction of DNA, capture of the genes to be assayed, and sequencing of the entire coding region on the Illumina platform. Identified variants previously described and other potentially pathogenic non-synonymous variants are reported with interpretations. This targeted hybrid capture-based test is designed to detect somatic single nucleotide variants, insertions and deletions (indels). At a mean depth of coverage of at least 4000x across the captured region, this test has 89.84% sensitivity for variants at a variant allelic fraction (VAF) of 1.25% and 99.48% for variants at a VAF of at least 2.5%. |
| Methodology | Next Generation Sequencing |
| Performed | Mon-Fri |
| Turnaround | 3 weeks from receipt of specimen |
| Specimen Requirements | Tissue from the affected area. Formalin fixed paraffin embedded affected tissue or fresh affected tissue in transport or tissue culture media. |
| Sample Collection | Routine Tissue Block: One (1) formalin fixed paraffin embedded (FFPE) block containing affected tissue. Fresh tissue placed in media (4 mm skin punch or tissue 4 mm in size). |
| Mininum Sample Volume | 3 millimeters |
| 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). Fresh tissue: Refrigerated temperature (cold packs). Please ship in media for overnight delivery. |
| Unacceptable Conditions | FFPE specimens processed using acid decalcification are not acceptable (EDTA is acceptable) |
| Special Instructions | |
| CPT Code(s) | 81479 |
| Miscellaneous | |
| Lab Area/Performed By | NGS |
| Requisition | SOMA Sequencing Requisition |
| Test Components | Next generation sequencing of all coding regions of 9 genes sequenced including FAS, JAK1, KRAS, NRAS, PIK3CD, PIK3R1, STAT5B, TLR8 and UBA1. |
| Test Details | Extraction of DNA, capture of the genes to be assayed, and sequencing of the entire coding region on the Illumina platform. Identified variants previously described and other potentially pathogenic non-synonymous variants are reported with interpretations. This targeted hybrid capture-based test is designed to detect somatic single nucleotide variants, insertions and deletions (indels). At a mean depth of coverage of at least 4000x across the captured region, this test has 89.84% sensitivity for variants at a variant allelic fraction (VAF) of 1.25% and 99.48% for variants at a VAF of at least 2.5%. |
| Methodology | Next Generation Sequencing |
| Performed | Mon-Fri |
| Turnaround | 3 weeks from receipt of specimen |
| Specimen Requirements | Tissue from the affected area or peripheral blood. Formalin fixed paraffin embedded affected tissue or fresh affected tissue in transport or tissue culture media. |
| Sample Collection | Routine Tissue Block: One (1) formalin fixed paraffin embedded (FFPE) block containing affected tissue. Fresh tissue placed in media (4 mm skin punch or tissue 4 mm in size). Peripheral blood: 3-5 mls in a lavendar top EDTA tube. |
| Mininum Sample Volume | 3 millimeters for tissue. 2 milliliters for 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). Fresh tissue: Refrigerated temperature (cold packs). Please ship in media for overnight delivery. Peripheral blood: Refrigerated (cold packs) for overnight delivery. |
| Unacceptable Conditions | FFPE specimens processed using acid decalcification are not acceptable (EDTA is acceptable) |
| Special Instructions | |
| CPT Code(s) | 81479 |
| Miscellaneous | |
| Lab Area/Performed By | NGS |
| Requisition | SOMA Sequencing Requisition |
| Test Components | Next generation sequencing of all coding regions of 2 genes sequenced including IDH1 and IDH2. |
| Test Details | Extraction of DNA, capture of the genes to be assayed, and sequencing of the entire coding region on the Illumina platform. Identified variants previously described and other potentially pathogenic non-synonymous variants are reported with interpretations. This targeted hybrid capture-based test is designed to detect somatic single nucleotide variants, insertions and deletions (indels). At a mean depth of coverage of at least 4000x across the captured region, this test has 89.84% sensitivity for variants at a variant allelic fraction (VAF) of 1.25% and 99.48% for variants at a VAF of at least 2.5%. |
| Methodology | Next Generation Sequencing |
| Performed | Mon-Fri |
| Turnaround | 3 weeks from receipt of specimen |
| Specimen Requirements | Tissue from the affected area. Formalin fixed paraffin embedded affected tissue or fresh affected tissue in transport or tissue culture media. |
| Sample Collection | Routine Tissue Block: One (1) formalin fixed paraffin embedded (FFPE) block containing affected tissue. Fresh tissue placed in media (4 mm skin punch or tissue 4 mm in size). |
| Mininum Sample Volume | 3 millimeters |
| 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). Fresh tissue: Refrigerated temperature (cold packs). Please ship in media for overnight delivery. |
| Unacceptable Conditions | FFPE specimens processed using acid decalcification are not acceptable (EDTA is acceptable) |
| Special Instructions | |
| CPT Code(s) | 81479 |
| Miscellaneous | |
| Lab Area/Performed By | NGS |
| Requisition | SOMA Sequencing Requisition |
| Test Components | Next generation sequencing of all coding regions of 5 genes sequenced including GNAS, HRAS, KRAS, NF1 and NRAS. |
| Test Details | Extraction of DNA, capture of the genes to be assayed, and sequencing of the entire coding region on the Illumina platform. Identified variants previously described and other potentially pathogenic non-synonymous variants are reported with interpretations. This targeted hybrid capture-based test is designed to detect somatic single nucleotide variants, insertions and deletions (indels). At a mean depth of coverage of at least 4000x across the captured region, this test has 89.84% sensitivity for variants at a variant allelic fraction (VAF) of 1.25% and 99.48% for variants at a VAF of at least 2.5%. |
| Methodology | Next Generation Sequencing |
| Performed | Mon-Fri |
| Turnaround | 3 weeks from receipt of specimen |
| Specimen Requirements | Tissue from the affected area. Formalin fixed paraffin embedded affected tissue or fresh affected tissue in transport or tissue culture media. |
| Sample Collection | Routine Tissue Block: One (1) formalin fixed paraffin embedded (FFPE) block containing affected tissue. Fresh tissue placed in media (4 mm skin punch or tissue 4 mm in size). |
| Mininum Sample Volume | 3 millimeters |
| 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). Fresh tissue: Refrigerated temperature (cold packs). Please ship in media for overnight delivery. |
| Unacceptable Conditions | FFPE specimens processed using acid decalcification are not acceptable (EDTA is acceptable) |
| Special Instructions | |
| CPT Code(s) | 81479 |
| Miscellaneous | |
| Lab Area/Performed By | NGS |
| Requisition | SOMA Sequencing Requisition |
| Test Components | Next generation sequencing of all coding regions of 28 genes sequenced including ABCA12, ACTB, ATP2A2, ATP2C1, BRAF, CARD14, EBP, FGFR1, FGFR2, FGFR3, GJB2, GNA11, GNA14, GNAQ, HRAS, KRAS, KRT1, KRT10, KRT2, MAP3K3, MVD, NEK9, NRAS, NSDSHL, PIK3CA, PMVK, PTCH1 and TEK. |
| Test Details | Extraction of DNA, capture of the genes to be assayed, and sequencing of the entire coding region on the Illumina platform. Identified variants previously described and other potentially pathogenic non-synonymous variants are reported with interpretations. This targeted hybrid capture-based test is designed to detect somatic single nucleotide variants, insertions and deletions (indels). At a mean depth of coverage of at least 4000x across the captured region, this test has 89.84% sensitivity for variants at a variant allelic fraction (VAF) of 1.25% and 99.48% for variants at a VAF of at least 2.5%. |
| Methodology | Next Generation Sequencing |
| Performed | Mon-Fri |
| Turnaround | 3 weeks from receipt of specimen |
| Specimen Requirements | Tissue from the affected area. Formalin fixed paraffin embedded affected tissue or fresh affected tissue in transport or tissue culture media. |
| Sample Collection | Routine Tissue Block: One (1) formalin fixed paraffin embedded (FFPE) block containing affected tissue. Fresh tissue placed in media (4 mm skin punch or tissue 4 mm in size). |
| Mininum Sample Volume | 3 millimeters |
| 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). Fresh tissue: Refrigerated temperature (cold packs). Please ship in media for overnight delivery. |
| Unacceptable Conditions | FFPE specimens processed using acid decalcification are not acceptable (EDTA is acceptable) |
| Special Instructions | |
| CPT Code(s) | 81479 |
| Miscellaneous | |
| Lab Area/Performed By | NGS |
| Requisition | SOMA Sequencing Requisition |
| Test Components | Next generation sequencing of all coding regions of 1 gene sequenced PIK3CA. |
| Test Details | Extraction of DNA, capture of the genes to be assayed, and sequencing of the entire coding region on the Illumina platform. Identified variants previously described and other potentially pathogenic non-synonymous variants are reported with interpretations. This targeted hybrid capture-based test is designed to detect somatic single nucleotide variants, insertions and deletions (indels). At a mean depth of coverage of at least 4000x across the captured region, this test has 89.84% sensitivity for variants at a variant allelic fraction (VAF) of 1.25% and 99.48% for variants at a VAF of at least 2.5%. |
| Methodology | Next Generation Sequencing |
| Performed | Mon-Fri |
| Turnaround | 3 weeks from receipt of specimen |
| Specimen Requirements | Tissue from the affected area. Formalin fixed paraffin embedded affected tissue or fresh affected tissue in transport or tissue culture media. |
| Sample Collection | Routine Tissue Block: One (1) formalin fixed paraffin embedded (FFPE) block containing affected tissue. Fresh tissue placed in media (4 mm skin punch or tissue 4 mm in size). |
| Mininum Sample Volume | 3 millimeters |
| 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). Fresh tissue: Refrigerated temperature (cold packs). Please ship in media for overnight delivery. |
| Unacceptable Conditions | FFPE specimens processed using acid decalcification are not acceptable (EDTA is acceptable) |
| Special Instructions | |
| CPT Code(s) | 81479 |
| Miscellaneous | |
| Lab Area/Performed By | NGS |
| Requisition | SOMA Sequencing Requisition |
| Test Components | Next generation sequencing of all coding regions of 26 genes sequenced including BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, MAP3K3, MAP3K8, MRAS, NF1, NF2, NRAS, PPP1CB, PTPN11, RAF1, RASA1, RASA2, RIT1, RRAS2, SHOC2, SMAD4, SOS1, SOS2, SPRED1 and STAMBP. |
| Test Details | Extraction of DNA, capture of the genes to be assayed, and sequencing of the entire coding region on the Illumina platform. Identified variants previously described and other potentially pathogenic non-synonymous variants are reported with interpretations. This targeted hybrid capture-based test is designed to detect somatic single nucleotide variants, insertions and deletions (indels). At a mean depth of coverage of at least 4000x across the captured region, this test has 89.84% sensitivity for variants at a variant allelic fraction (VAF) of 1.25% and 99.48% for variants at a VAF of at least 2.5%. |
| Methodology | Next Generation Sequencing |
| Performed | Mon-Fri |
| Turnaround | 3 weeks from receipt of specimen |
| Specimen Requirements | Tissue from the affected area. Formalin fixed paraffin embedded affected tissue or fresh affected tissue in transport or tissue culture media. |
| Sample Collection | Routine Tissue Block: One (1) formalin fixed paraffin embedded (FFPE) block containing affected tissue. Fresh tissue placed in media (4 mm skin punch or tissue 4 mm in size). |
| Mininum Sample Volume | 3 millimeters |
| 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). Fresh tissue: Refrigerated temperature (cold packs). Please ship in media for overnight delivery. |
| Unacceptable Conditions | FFPE specimens processed using acid decalcification are not acceptable (EDTA is acceptable) |
| Special Instructions | |
| CPT Code(s) | 81442 |
| Miscellaneous | |
| Lab Area/Performed By | NGS |
| Requisition | SOMA Sequencing Requisition |
| Test Components | Next generation sequencing of all coding regions of 49 genes sequenced including ACTB, AKT1, AKT2, AKT3, ARAF, BRAF, CCM2, CCND2, CDKN1C, DCHS1, EPHB4, FAT4, FGFR1, FGFR2, FLT4, GATA2, GJC2, GNA11, GNA14, GNAQ, HGF, HRAS, IDH1, IDH2, KIF11, KRAS, KRIT1, LZTR1, MAP2K1, MAP3K3, MET, MTOR, NF2, NRAS, PDGFRB, PIEZO1, PIK3CA, PIK3CD, PIK3R1, PIK3R2, PRKACA, PTEN, PTPN14, RASA1, SMAD3, SMO, TEK, TSC1 and TSC2. |
| Test Details | Extraction of DNA, capture of the genes to be assayed, and sequencing of the entire coding region on the Illumina platform. Identified variants previously described and other potentially pathogenic non-synonymous variants are reported with interpretations. This targeted hybrid capture-based test is designed to detect somatic single nucleotide variants, insertions and deletions (indels). At a mean depth of coverage of at least 4000x across the captured region, this test has 89.84% sensitivity for variants at a variant allelic fraction (VAF) of 1.25% and 99.48% for variants at a VAF of at least 2.5%. |
| Methodology | Next Generation Sequencing |
| Performed | Mon-Fri |
| Turnaround | 3 weeks from receipt of specimen |
| Specimen Requirements | Tissue from the affected area. Formalin fixed paraffin embedded affected tissue or fresh affected tissue in transport or tissue culture media. |
| Sample Collection | Routine Tissue Block: One (1) formalin fixed paraffin embedded (FFPE) block containing affected tissue. Fresh tissue placed in media (4 mm skin punch or tissue 4 mm in size). |
| Mininum Sample Volume | 3 millimeters |
| 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). Fresh tissue: Refrigerated temperature (cold packs). Please ship in media for overnight delivery. |
| Unacceptable Conditions | FFPE specimens processed using acid decalcification are not acceptable (EDTA is acceptable) |
| Special Instructions | |
| CPT Code(s) | 81479 |
| Miscellaneous | |
| Lab Area/Performed By | NGS |
| Requisition | SOMA Sequencing Requisition |
| Test Components | Next generation sequencing of all coding regions of 6 genes sequenced including CDKN1C, GNA11, GNAQ, PIK3CA, PIK3R1 and TEK. |
| Test Details | Extraction of DNA, capture of the genes to be assayed, and sequencing of the entire coding region on the Illumina platform. Identified variants previously described and other potentially pathogenic non-synonymous variants are reported with interpretations. This targeted hybrid capture-based test is designed to detect somatic single nucleotide variants, insertions and deletions (indels). At a mean depth of coverage of at least 4000x across the captured region, this test has 89.84% sensitivity for variants at a variant allelic fraction (VAF) of 1.25% and 99.48% for variants at a VAF of at least 2.5%. |
| Methodology | Next Generation Sequencing |
| Performed | Mon-Fri |
| Turnaround | 3 weeks from receipt of specimen |
| Specimen Requirements | Tissue from the affected area. Formalin fixed paraffin embedded affected tissue or fresh affected tissue in transport or tissue culture media. |
| Sample Collection | Routine Tissue Block: One (1) formalin fixed paraffin embedded (FFPE) block containing affected tissue. Fresh tissue placed in media (4 mm skin punch or tissue 4 mm in size). |
| Mininum Sample Volume | 3 millimeters |
| 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). Fresh tissue: Refrigerated temperature (cold packs). Please ship in media for overnight delivery. |
| Unacceptable Conditions | FFPE specimens processed using acid decalcification are not acceptable (EDTA is acceptable) |
| Special Instructions | |
| CPT Code(s) | 81479 |
| Miscellaneous | |
| Lab Area/Performed By | NGS |
| Requisition | SOMA Sequencing Requisition |
| Test Components | Next generation sequencing of all coding regions of 65 genes sequenced including ACVRL1, ARAF, BRAF, CCBE1, CCM2, CELSR1, CLDN14, CTNNB1, DCHS1, ELMO2, ENG, EPHB4, FAT4, FGFR1, FLT4, FOXC2, GATA2, GDF2, GJA4, GJC2, GLMN, GNA11, GNA14, GNAQ, GNAS, HGF, HRAS, IDH1, IDH2, KDR, KEL, KIF11, KRAS, KRIT1, LZTR1, MAP2K1, MAP2K2, MAP3K3, MET, MTOR, NF1, NRAS, PDCD10, PDGFRB, PIEZO1, PIK3CA, PIK3R1, PIK3R2, PRKACA, PTEN, PTPN11, PTPN14, RASA1, RHOA, SHOC2, SMAD4, SMO, SOS1, SOX18, SPRED1, STAMBP, TEK, TSC1, TSC2 and VEGFC. |
| Test Details | Extraction of DNA, capture of the genes to be assayed, and sequencing of the entire coding region on the Illumina platform. Identified variants previously described and other potentially pathogenic non-synonymous variants are reported with interpretations. This targeted hybrid capture-based test is designed to detect somatic single nucleotide variants, insertions and deletions (indels). At a mean depth of coverage of at least 4000x across the captured region, this test has 89.84% sensitivity for variants at a variant allelic fraction (VAF) of 1.25% and 99.48% for variants at a VAF of at least 2.5%. |
| Methodology | Next Generation Sequencing |
| Performed | Mon-Fri |
| Turnaround | 3 weeks from receipt of specimen |
| Specimen Requirements | Tissue from the affected area. Formalin fixed paraffin embedded affected tissue or fresh affected tissue in transport or tissue culture media. |
| Sample Collection | Routine Tissue Block: One (1) formalin fixed paraffin embedded (FFPE) block containing affected tissue. Fresh tissue placed in media (4 mm skin punch or tissue 4 mm in size). |
| Mininum Sample Volume | 3 millimeters |
| 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). Fresh tissue: Refrigerated temperature (cold packs). Please ship in media for overnight delivery. |
| Unacceptable Conditions | FFPE specimens processed using acid decalcification are not acceptable (EDTA is acceptable) |
| Special Instructions | |
| CPT Code(s) | 81479 |
| Miscellaneous | |
| Lab Area/Performed By | NGS |
Cardiac Disease
| Requisition | Cardiac Sequencing Requisition |
| Test Components |
CORE: 82 genes sequenced: ACADVL, ACTA2, ACTC1, ACTN2, AGL, ALMS1, ALPK3, BAG3, BGN, CACNA1C, CALM1, CALM2, CALM3, CASQ2, COL3A1, COL5A2, CPT2, CRYAB, CSRP3, DES, DMD, DNAJC19, DOLK, DSC2, DSG2, DSP, EFEMP2, ELAC2, EMD, FBN1, FBN2, FHL1, FKRP, FKTN, FLNC, FOXE3, GAA, GLA, JPH2, JUP, KCNE1, KCNH2, KCNJ2, KCNQ1, LAMP2, LMNA, LOX, MFAP5, MTO1, MYBPC3, MYH7, MYH11, MYL2, MYL3, MYLK, NEXN, PKP2, PLN, PRKAG2, PRKG1, RBM20, RYR2, SCN5A, SDHA, SGCD, SLC25A4, SMAD2, SMAD3, TAZ, TECRL, TGFB2, TGFBR1, TGFBR2, TMEM43, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN, TTR and VCL. EXPANDED: 150 genes sequenced: ABCC9, ACADVL, ACTA2, ACTC1, ACTN2, AGL, AKAP9, ALMS1, ALPK3, ANKRD1, BAG3, BGN, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CALR3, CASQ2, CAV3, CDH2, CHRM2, COL3A1, COL5A2, COL9A1, CPT2, CRYAB, CSRP3, CTF1, DES, DMD, DNAJC19, DOLK, DSC2, DSG2, DSP, DTNA, EFEMP2, ELAC2, EMD, EYA4, FBN1, FBN2, FHL1, FKRP, FKTN, FLNA, FLNC, FOXE3, GAA, GATA4, GATA6, GATAD1, GLA, GPD1L, HAND1, HCN4, ILK, JPH2, JUP, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, KLF10, LAMA4, LAMP2, LDB3, LMNA, LOX, MAT2A, MFAP5, MIB1, MTO1, MYBPC3, MYH6, MYH7, MYH11, MYL2, MYL3, MYLK, MYLK2, MYLK3, MYOM1, MYOZ2, MYPN, NEBL, NEXN, NKX2-5, NOTCH1, NRAP, OBSCN, PDLIM3, PKP2, PLEKHM2, PLN, PPCS, PRDM16, PRKAG2, PRKG1, PSEN2, RAF1, RANGRF, RBM20, RYR2, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCN10A, SDHA, SGCD, SLC2A10, SLC25A4, SLMAP, SMAD2, SMAD3, SNTA1, TAZ, TBX20, TCAP, TECRL, TGFB2, TGFB3, TGFBR1, TGFBR2, TJP1, TMEM43, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TRDN, TRIM63, TRPM4, TTN, TTR, TXNRD2, VCL, YWHAE and ZBTB17. aCGH send out in certain cases: ALMS1, BGN, DSP, KCNH2, KCNQ1, PKP2, 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; aCGH |
| Performed | Mon-Fri |
| Turnaround | 3 – 4 weeks from receipt of specimen – NGS (aCGH send out is an additional 3 weeks after completion of NGS) |
| 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) | 81479 (Core panel); 81479 (Expanded panel); 81479 (aCGH send out) |
| Miscellaneous | |
| Lab Area/Performed By | NGS |
| Requisition | Cardiac Sequencing Requisition |
| Test Components | CORE: 13 genes sequenced: CACNA1C, CALM1, CALM2, CALM3, CASQ2, KCNE1, KCNH2, KCNJ2, KCNQ1, RYR2, SCN5A, TECRL and TRDN.
EXPANDED: 35 genes sequenced: AKAP9, 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, TECRL, TRDN and TRPM4. aCGH send out in certain cases: KCNH2, KCNQ1, 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; aCGH |
| Performed | Mon-Fri |
| Turnaround | 3 – 4 weeks from receipt of specimen – NGS (aCGH send out is an additional 3 weeks after completion of NGS) |
| 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) | 81479 (Core panel); 81479 (Expanded panel); 81479 (aCGH send out) |
| Miscellaneous | |
| Lab Area/Performed By | NGS |
| Requisition | Cardiac Sequencing Requisition |
| Test Components | CORE: 1 gene sequenced: SCN5A
EXPANDED: 17 genes sequenced: CACNA2D1, CACNB2, GPD1L, HCN4, KCND3, KCNE3, KCNE5, 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 | 3 – 4 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 (Core panel); 81479 (Expanded panel); 81479 (aCGH Send Out) |
| Miscellaneous | |
| Lab Area/Performed By | NGS |
| Requisition | Cardiac Sequencing Requisition |
| Test Components | CORE: 7 genes sequenced: CALM1, CALM2, CALM3, CASQ2, RYR2, TECRL and TRDN.
aCGH send out in certain cases: 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; aCGH |
| Performed | Mon-Fri |
| Turnaround | 3 – 4 weeks from receipt of specimen – NGS (aCGH send out is an additional 3 weeks after completion of NGS) |
| 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) | 81479 (Core panel); 81479 (aCGH send out) |
| Miscellaneous | |
| Lab Area/Performed By | NGS |
| Requisition | Cardiac Sequencing Requisition |
| Test Components | CORE: 10 genes sequenced: CACNA1C, CALM1, CALM2, CALM3, KCNE1, KCNH2, KCNJ2, KCNQ1, SCN5A and TRDN.
EXPANDED: 16 genes sequenced: AKAP9, CACNA1C, CALM1, CALM2, CALM3, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, SCN4B, SCN5A, SNTA1 and TRDN. aCGH send out in certain cases: KCNH2 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; aCGH |
| Performed | Mon-Fri |
| Turnaround | 3 – 4 weeks from receipt of specimen – NGS (aCGH send out is an additional 3 weeks after completion of NGS) |
| 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) | 81479 (Core panel); 81479 (Expanded panel); 81479 (aCGH send out) |
| Miscellaneous | |
| Lab Area/Performed By | NGS |
| Requisition | Cardiac Sequencing Requisition |
| Test Components | CORE: 52 genes sequenced: ACADVL, ACTC1, ACTN2, AGL, ALMS1, ALPK3, BAG3, CPT2, CRYAB, CSRP3, DES, DMD, DNAJC19, DOLK, DSC2, DSG2, DSP, ELAC2, EMD, FHL1, FKRP, FKTN, FLNC, GAA, GLA, JPH2, JUP, LAMP2, LMNA, MTO1, MYBPC3, MYH7, MYL2, MYL3, NEXN, PKP2, PLN, PRKAG2, RBM20, SCN5A, SDHA, SGCD, SLC25A4, TAZ, TMEM43, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR and VCL.
EXPANDED: 96 genes sequenced: ABCC9, ACADVL, ACTC1, ACTN2, AGL, ALMS1, ALPK3, ANKRD1, BAG3, CALR3, CAV3, CDH2, CHRM2, CPT2, CRYAB, CSRP3, CTF1, DES, DMD, DNAJC19, DOLK, DSC2, DSG2, DSP, DTNA, ELAC2, EMD, EYA4, FHL1, FKRP, FKTN, FLNC, GAA, GATA4, GATA6, GATAD1, GLA, HAND1, ILK, JPH2, JUP, KLF10, LAMA4, LAMP2, LDB3, LMNA, MIB1, MTO1, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYLK3, MYOM1, MYOZ2, MYPN, NEBL, NKX2-5, NEXN, NRAP, OBSCN, PDLIM3, PKP2, PLEKHM2, PLN, PPCS, PRDM16, PRKAG2, PSEN2, RAF1, RBM20, RYR2, SCN5A, SDHA, SGCD, SLC25A4, TAZ, TBX20, TCAP, TGFB3, TJP1, TMEM43, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TRIM63, TTN, TTR, TXNRD2, YWHAE, VCL and ZBTB17. aCGH send out in certain cases: ALMS1, DSP and PKP2. |
| 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; aCGH |
| Performed | Mon-Fri |
| Turnaround | 3 – 4 weeks from receipt of specimen – NGS (aCGH send out is an additional 3 weeks after completion of NGS) |
| 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 (Core panel); 81439 (Expanded panel); 81479 (aCGH send out) |
| Miscellaneous | |
| Lab Area/Performed By | NGS |
| Requisition | Cardiac Sequencing Requisition |
| Test Components | CORE: 11 genes sequenced: DES, DSC2, DSG2, DSP, JUP, LMNA, PKP2, PLN, SCN5A, TMEM43 and TTN.
EXPANDED: 17 genes sequenced: CDH2, DES, DSC2, DSG2, DSP, JUP, LMNA, MYBPC3, MYH7, MYL3, PKP2, PLN, SCN5A, TGFB3, TJP1, TMEM43 and TTN. aCGH send out in certain cases: DSP and PKP2. |
| 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; aCGH |
| Performed | Mon-Fri |
| Turnaround | 3 – 4 weeks from receipt of specimen – NGS (aCGH send out is an additional 3 weeks after completion of NGS) |
| 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) | 81479 (Core panel); 81439 (Expanded panel); 81479 (aCGH send out) |
| Miscellaneous | |
| Lab Area/Performed By | NGS |
| Test Components | CORE: 33 genes sequenced: ACADVL, ACTC1, ACTN2, ALMS1, BAG3, CPT2, CRYAB, DES, DMD, DNAJC19, DOLK, DSP, EMD, FKRP, FKTN, FLNC, JPH2, LAMP2, LMNA, MYH7, NEXN, PLN, RBM20, SCN5A, SDHA, SGCD, TAZ, TNNC1, TNNI3, TNNT2, TPM1, TTN and VCL.
EXPANDED: 68 genes sequenced: ABCC9, ACADVL, ACTC1, ACTN2, ALMS1, ANKRD1, BAG3, CHRM2, CPT2, CRYAB, CTF1, DES, DMD, DNAJC19, DOLK, DSC2, DSG2, DSP, DTNA, EMD, EYA4, FKRP, FKTN, FLNC, GATA4, GATA6, GATAD1, HAND1, ILK, JPH2, LAMA4, LAMP2, LDB3, LMNA, MIB1, MYH6, MYH7, MYLK3, MYPN, NEBL, NEXN, NKX2-5, NRAP, OBSCN, PLEKHM2, PLN, PPCS, PRDM16, PSEN2, RAF1, RBM20, RYR2, SCN5A, SDHA, SGCD, TAZ, TBX20, TCAP, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TTN, TXNRD2, VCL, YWHAE and ZBTB17. aCGH send out in certain cases: ALMS1. |
| 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; aCGH |
| Performed | Mon-Fri |
| Turnaround | 3 – 4 weeks from receipt of specimen – NGS (aCGH send out is an additional 3 weeks after completion of NGS) |
| 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) | 81479 (Core panel); 81479 (Expanded panel); 81479 (aCGH send out) |
| Miscellaneous | |
| Lab Area/Performed By | NGS |
| Test Components | CORE: 28 genes sequenced: ACADVL, ACTC1, ACTN2, AGL, ALPK3, BAG3, CSRP3, DES, ELAC2, FHL1, FLNC, GAA, GLA, JPH2, LAMP2, MTO1, MYBPC3, MYH7, MYL2, MYL3, PLN, PRKAG2, SLC25A4, TNNC1, TNNI3, TNNT2, TPM1 and TTR.
EXPANDED: 42 genes sequenced: ACADVL, ACTC1, ACTN2, AGL, ALPK3, ANKRD1, BAG3, CALR3, CAV3, CSRP3, DES, ELAC2, FHL1, FLNC, GAA, GATA4, GLA, JPH2, KLF10, LAMP2, MTO1, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOM1, MYOZ2, MYPN, PDLIM3, PLN, PRKAG2, RYR2, SLC25A4, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TRIM63 and TTR. |
| 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 | 3 – 4 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. |
| CPT Code(s) | 81479 (Core panel); 81479 (Expanded panel) |
| Miscellaneous | |
| Lab Area/Performed By | NGS |
| Requisition | Cardiac Sequencing Requisition |
| Test Components | CORE: 18 genes sequenced: ACTA2, BGN, COL3A1, COL5A2, EFEMP2, FBN1, FBN2, FOXE3, LOX, MFAP5, MYH11, MYLK, PRKG1, SMAD2, SMAD3, TGFB2, TGFBR1 and TGFBR2.
EXPANDED: 25 genes sequenced: ACTA2, BGN, COL3A1, COL5A2, COL9A1, EFEMP2, FBN1, FBN2, FLNA, FOXE3, HCN4, LOX, MAT2A, MFAP5, MYH11, MYLK, NOTCH1, PRKG1, SLC2A10, SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1 and TGFBR2. aCGH send out in certain cases: BGN. |
| 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; aCGH |
| Performed | Mon-Fri |
| Turnaround | 3 – 4 weeks from receipt of specimen – NGS (aCGH send out is an additional 3 weeks after completion of NGS) |
| 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) | 81479 (Core panel); 81410 (Expanded panel); 81479 (aCGH send out) |
| Miscellaneous | |
| Lab Area/Performed By | NGS |
Diabetes, Hyperinsulinism and ER Stress
| Requisition | Diabetes Sequencing Requisition |
| Test Components | Next generation sequencing of all coding regions of 54 genes: ABCC8, AGPAT2, AIRE, APPL1, AKT2, BLK, CACNA1D, CEL, CISD2, CP, EIF2AK3, FOXA2, FOXP3, GATA4, GATA6, GCK, GLIS3, GLUD1, HADH, HNF1A, HNF1B, HNF4A, IER3IP1, INS, INSR, KCNJ11, KDM6A, KLF11, KMT2D, LMNA, LRBA, MNX1, NEUROD1, NEUROG3, NKX2-2, PAX6, PAX4, PCBD1, PDX1, PGM1, PLAGL1, PPARG, PTF1A, RFX6, PLIN1, PMM2, SLC2A2, SLC16A1, SLC19A2, STAT3, TRMT10A, UCP2, WFS1 and ZFP57.
aCGH send out in certain cases: HNF1B. |
| 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; aCGH |
| 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) | 81479 x 2(NGS and aCGH send out) |
| Miscellaneous | |
| Lab Area/Performed By | NGS |
| 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). |
| Special Instructions | |
| CPT Code(s) | 81479 |
| Miscellaneous | |
| Lab Area/Performed By | NGS |
| 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). |
| Special Instructions | |
| CPT Code(s) | 81479 |
| Miscellaneous | |
| Lab Area/Performed By | NGS |
| 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.
aCGH send out in certain cases: HNF1B. |
| 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; aCGH |
| 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). |
| Special Instructions | |
| CPT Code(s) | 81479 x 2 (NGS and aCGH send out) |
| Miscellaneous | |
| Lab Area/Performed By | NGS |
| Test Components | Next generation sequencing of all coding regions of 44 genes: ABCC8, AGPAT2, AIRE, APPL1, AKT2, BLK, CEL, CISD2, CP, EIF2AK3, FOXP3, GATA4, GATA6, GCK, GLIS3, HNF1A, HNF1B, HNF4A, IER3IP1, INS, INSR, KCNJ11, KLF11, LMNA, LRBA, MNX1, NEUROD1, NEUROG3, NKX2-2, PAX4, PAX6, PCBD1, PDX1, PLAGL1, PLIN1, PPARG, PTF1A, RFX6, SLC2A2, SLC19A2, STAT3, TRMT10A, WFS1 and ZFP57.
aCGH send out in certain cases: HNF1B. |
| 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; aCGH |
| 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). |
| Special Instructions | |
| CPT Code(s) | 81479 x 2 (NGS and aCGH Send Out) |
| Miscellaneous | |
| Lab Area/Performed By | NGS |
Renal Disease
| Requisition | NGS 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) | 81479 x 2 (NGS and MLPA send out) |
| Miscellaneous | |
| Lab Area/Performed By | NGS |
| Requisition | NGS Renal Sequencing Requisition |
| Test Components | Next generation sequencing of all coding regions of 3 genes: COL4A3, COL4A4 and COL4A5.
aCGH send out in certain cases: 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; aCGH |
| 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 (NGS); 81479 (aCGH send out) |
| Miscellaneous | |
| Lab Area/Performed By | NGS |
| Requisition | NGS Renal Sequencing Requisition |
| Test Components | Next generation sequencing of all coding regions of 32 genes: ACE, AGT, AGTR1, AHI1, BBS10, BICC1, CC2D2A, CEP290, CRB2, DNAJB11, EYA1, GANAB, GLIS2, HNF1B, INVS, IQCB1, 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) | 81479 |
| Miscellaneous | |
| Lab Area/Performed By | NGS |
| Requisition | NGS 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, NUP107, NUP205, NUP93, OCRL, OSGEP, PDSS2, PLCE1, PTPRO, REN, SCARB2, SMARCAL1, TP53RK, TPRKB, TRPC6, TTC21B, WDR73, WT1 and XPO5.
aCGH send out in certain cases: CLCN5, COL4A5, NPHS1, NPHS2. |
| 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; aCGH |
| 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) | 81479 (NGS); 81479 (aCGH Send Out) |
| Miscellaneous | |
| Lab Area/Performed By | NGS |
Clinical Whole Exome Sequencing
| Requisition | Whole Exome Sequencing |
| Test Components | Next generation sequencing of the coding regions of the genome |
| Test Details | Extraction of DNA, capture 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 | 8 weeks from receipt of specimen |
| Specimen Requirements | Peripheral blood or Buccal swabs |
| 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) | 81415 (proband); 81416 (each comparator) |
| Miscellaneous | |
| Lab Area/Performed By | NGS |