**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

Cortical Malformations and Epilepsy Panel
RequisitionSOMA Sequencing Requisition
Test ComponentsNext 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 DetailsExtraction 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%.
MethodologyNext Generation Sequencing
PerformedMon-Fri
Turnaround3 weeks from receipt of specimen
Specimen RequirementsTissue from the affected area.  Formalin fixed paraffin embedded affected tissue or fresh affected tissue in transport or tissue culture media.
Sample CollectionRoutine 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 ConditionsFFPE 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 ConditionsFFPE specimens processed using acid decalcification are not acceptable (EDTA is acceptable)
Special Instructions 
CPT Code(s)81479
Miscellaneous 
Lab Area/Performed ByNGS
Inborn Errors of Immunity Panel
RequisitionSOMA Sequencing Requisition
Test ComponentsNext generation sequencing of all coding regions of 9 genes sequenced including FAS, JAK1, KRAS, NRAS, PIK3CD, PIK3R1, STAT5B, TLR8 and UBA1.
Test DetailsExtraction 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%.
MethodologyNext Generation Sequencing
PerformedMon-Fri
Turnaround3 weeks from receipt of specimen
Specimen RequirementsTissue from the affected area or peripheral blood.  Formalin fixed paraffin embedded affected tissue or fresh affected tissue in transport or tissue culture media.
Sample CollectionRoutine 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 ConditionsFFPE 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 ConditionsFFPE specimens processed using acid decalcification are not acceptable (EDTA is acceptable)
Special Instructions 
CPT Code(s)81479
Miscellaneous 
Lab Area/Performed ByNGS
Maffucci Syndrome Panel
RequisitionSOMA Sequencing Requisition
Test ComponentsNext generation sequencing of all coding regions of 2 genes sequenced including IDH1 and IDH2.
Test DetailsExtraction 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%.
MethodologyNext Generation Sequencing
PerformedMon-Fri
Turnaround3 weeks from receipt of specimen
Specimen RequirementsTissue from the affected area.  Formalin fixed paraffin embedded affected tissue or fresh affected tissue in transport or tissue culture media.
Sample CollectionRoutine 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 ConditionsFFPE 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 ConditionsFFPE specimens processed using acid decalcification are not acceptable (EDTA is acceptable)
Special Instructions 
CPT Code(s)81479
Miscellaneous 
Lab Area/Performed ByNGS
McCune Albright Syndrome
RequisitionSOMA Sequencing Requisition
Test ComponentsNext generation sequencing of all coding regions of 5 genes sequenced including GNAS, HRAS, KRAS, NF1 and NRAS.
Test DetailsExtraction 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%.
MethodologyNext Generation Sequencing
PerformedMon-Fri
Turnaround3 weeks from receipt of specimen
Specimen RequirementsTissue from the affected area.  Formalin fixed paraffin embedded affected tissue or fresh affected tissue in transport or tissue culture media.
Sample CollectionRoutine 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 ConditionsFFPE 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 ConditionsFFPE specimens processed using acid decalcification are not acceptable (EDTA is acceptable)
Special Instructions 
CPT Code(s)81479
Miscellaneous 
Lab Area/Performed ByNGS
Nevus Panel
RequisitionSOMA Sequencing Requisition
Test ComponentsNext 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 DetailsExtraction 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%.
MethodologyNext Generation Sequencing
PerformedMon-Fri
Turnaround3 weeks from receipt of specimen
Specimen RequirementsTissue from the affected area.  Formalin fixed paraffin embedded affected tissue or fresh affected tissue in transport or tissue culture media.
Sample CollectionRoutine 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 ConditionsFFPE 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 ConditionsFFPE specimens processed using acid decalcification are not acceptable (EDTA is acceptable)
Special Instructions 
CPT Code(s)81479
Miscellaneous 
Lab Area/Performed ByNGS
PIK3CA-Related Overgrowth Spectrum Disorders
RequisitionSOMA Sequencing Requisition
Test ComponentsNext generation sequencing of all coding regions of 1 gene sequenced PIK3CA.
Test DetailsExtraction 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%.
MethodologyNext Generation Sequencing
PerformedMon-Fri
Turnaround3 weeks from receipt of specimen
Specimen RequirementsTissue from the affected area.  Formalin fixed paraffin embedded affected tissue or fresh affected tissue in transport or tissue culture media.
Sample CollectionRoutine 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 ConditionsFFPE 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 ConditionsFFPE specimens processed using acid decalcification are not acceptable (EDTA is acceptable)
Special Instructions 
CPT Code(s)81479
Miscellaneous 
Lab Area/Performed ByNGS
Rasopathies Panel
RequisitionSOMA Sequencing Requisition
Test ComponentsNext 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 DetailsExtraction 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%.
MethodologyNext Generation Sequencing
PerformedMon-Fri
Turnaround3 weeks from receipt of specimen
Specimen RequirementsTissue from the affected area.  Formalin fixed paraffin embedded affected tissue or fresh affected tissue in transport or tissue culture media.
Sample CollectionRoutine 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 ConditionsFFPE 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 ConditionsFFPE specimens processed using acid decalcification are not acceptable (EDTA is acceptable)
Special Instructions 
CPT Code(s)81442
Miscellaneous 
Lab Area/Performed ByNGS
Somatic Overgrowth Panel
RequisitionSOMA Sequencing Requisition
Test ComponentsNext 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 DetailsExtraction 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%.
MethodologyNext Generation Sequencing
PerformedMon-Fri
Turnaround3 weeks from receipt of specimen
Specimen RequirementsTissue from the affected area.  Formalin fixed paraffin embedded affected tissue or fresh affected tissue in transport or tissue culture media.
Sample CollectionRoutine 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 ConditionsFFPE 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 ConditionsFFPE specimens processed using acid decalcification are not acceptable (EDTA is acceptable)
Special Instructions 
CPT Code(s)81479
Miscellaneous 
Lab Area/Performed ByNGS
Somatic Undergrowth Panel
RequisitionSOMA Sequencing Requisition
Test ComponentsNext generation sequencing of all coding regions of 6 genes sequenced including CDKN1C, GNA11, GNAQ, PIK3CA, PIK3R1 and TEK.
Test DetailsExtraction 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%.
MethodologyNext Generation Sequencing
PerformedMon-Fri
Turnaround3 weeks from receipt of specimen
Specimen RequirementsTissue from the affected area.  Formalin fixed paraffin embedded affected tissue or fresh affected tissue in transport or tissue culture media.
Sample CollectionRoutine 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 ConditionsFFPE 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 ConditionsFFPE specimens processed using acid decalcification are not acceptable (EDTA is acceptable)
Special Instructions 
CPT Code(s)81479
Miscellaneous 
Lab Area/Performed ByNGS
Vascular Anomalies Panel
RequisitionSOMA Sequencing Requisition
Test ComponentsNext 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, TSC1TSC2 and VEGFC.
Test DetailsExtraction 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%.
MethodologyNext Generation Sequencing
PerformedMon-Fri
Turnaround3 weeks from receipt of specimen
Specimen RequirementsTissue from the affected area.  Formalin fixed paraffin embedded affected tissue or fresh affected tissue in transport or tissue culture media.
Sample CollectionRoutine 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 ConditionsFFPE 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 ConditionsFFPE specimens processed using acid decalcification are not acceptable (EDTA is acceptable)
Special Instructions 
CPT Code(s)81479
Miscellaneous 
Lab Area/Performed ByNGS

Cardiac Disease

Cardiac Diseases Gene panel
RequisitionCardiac 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 DetailsExtraction 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.
MethodologyNext Generation Sequencing; aCGH
PerformedMon-Fri
Turnaround3 – 4 weeks from receipt of specimen – NGS (aCGH send out is an additional 3 weeks after completion of NGS)
Specimen RequirementsPeripheral blood
Sample Collection1 EDTA (lavender top) tube containing 2-5 mL peripheral blood
Mininum Sample Volume2 ml
Storage/Transport ConditionsAmbient / 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 ConditionsFrozen 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 ByNGS
Arrhythmia panel
RequisitionCardiac Sequencing Requisition
Test ComponentsCORE: 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 DetailsExtraction 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.
MethodologyNext Generation Sequencing; aCGH
PerformedMon-Fri
Turnaround3 – 4 weeks from receipt of specimen – NGS (aCGH send out is an additional 3 weeks after completion of NGS)
Specimen RequirementsPeripheral blood
Sample Collection1 EDTA (lavender top) tube containing 2-5 mL peripheral blood
Mininum Sample Volume2 ml
Storage/Transport ConditionsAmbient / 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 ConditionsFrozen 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 ByNGS
Brugada Syndromes panel
RequisitionCardiac Sequencing Requisition
Test ComponentsCORE: 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 DetailsExtraction 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.
MethodologyNext Generation Sequencing
PerformedMon-Fri
Turnaround3 – 4 weeks from receipt of specimen
Specimen RequirementsPeripheral blood
Sample Collection1 EDTA (lavender top) tube containing 2-5 mL peripheral blood
Mininum Sample Volume2 ml
Storage/Transport ConditionsAmbient / 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 ConditionsFrozen 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 ByNGS
Catecholaminergic polymorphic ventricular tachycardia (CPVT) panel
RequisitionCardiac Sequencing Requisition
Test ComponentsCORE: 7 genes sequenced: CALM1, CALM2, CALM3, CASQ2, RYR2, TECRL and TRDN.

 

aCGH send out in certain cases: RYR2 and TRDN.

Test DetailsExtraction 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.
MethodologyNext Generation Sequencing; aCGH
PerformedMon-Fri
Turnaround3 – 4 weeks from receipt of specimen – NGS (aCGH send out is an additional 3 weeks after completion of NGS)
Specimen RequirementsPeripheral blood
Sample Collection1 EDTA (lavender top) tube containing 2-5 mL peripheral blood
Mininum Sample Volume2 ml
Storage/Transport ConditionsAmbient / 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 ConditionsFrozen 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 ByNGS
Long QT Syndromes panel
RequisitionCardiac Sequencing Requisition
Test ComponentsCORE: 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 DetailsExtraction 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.
MethodologyNext Generation Sequencing; aCGH
PerformedMon-Fri
Turnaround3 – 4 weeks from receipt of specimen – NGS (aCGH send out is an additional 3 weeks after completion of NGS)
Specimen RequirementsPeripheral blood
Sample Collection1 EDTA (lavender top) tube containing 2-5 mL peripheral blood
Mininum Sample Volume2 ml
Storage/Transport ConditionsAmbient / 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 ConditionsFrozen 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 ByNGS
Cardiomyopathy panel
RequisitionCardiac Sequencing Requisition
Test ComponentsCORE: 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 DetailsExtraction 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.
MethodologyNext Generation Sequencing; aCGH
PerformedMon-Fri
Turnaround3 – 4 weeks from receipt of specimen – NGS (aCGH send out is an additional 3 weeks after completion of NGS)
Specimen RequirementsPeripheral blood
Sample Collection1 EDTA (lavender top) tube containing 2-5 mL peripheral blood
Mininum Sample Volume2 ml
Storage/Transport ConditionsAmbient / 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 ConditionsFrozen 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 ByNGS
Arrhythmogenic right ventricular cardiomyopathy (ARVC) Gene Set
RequisitionCardiac Sequencing Requisition
Test ComponentsCORE: 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 DetailsExtraction 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.
MethodologyNext Generation Sequencing; aCGH
PerformedMon-Fri
Turnaround3 – 4 weeks from receipt of specimen – NGS (aCGH send out is an additional 3 weeks after completion of NGS)
Specimen RequirementsPeripheral blood
Sample Collection1 EDTA (lavender top) tube containing 2-5 mL peripheral blood
Mininum Sample Volume2 ml
Storage/Transport ConditionsAmbient / 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 ConditionsFrozen 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 ByNGS
Dilated cardiomyopathy (DCM) panel
RequisitionCardiac Sequencing Requisition
Test ComponentsCORE: 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 DetailsExtraction 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.
MethodologyNext Generation Sequencing; aCGH
PerformedMon-Fri
Turnaround3 – 4 weeks from receipt of specimen – NGS (aCGH send out is an additional 3 weeks after completion of NGS)
Specimen RequirementsPeripheral blood
Sample Collection1 EDTA (lavender top) tube containing 2-5 mL peripheral blood
Mininum Sample Volume2 ml
Storage/Transport ConditionsAmbient / 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 ConditionsFrozen 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 ByNGS
Hypertrophic Cardiomyopathy (HCM) panel
RequisitionCardiac Sequencing Requisition
Test ComponentsCORE: 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 DetailsExtraction 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.
MethodologyNext Generation Sequencing
PerformedMon-Fri
Turnaround3 – 4 weeks from receipt of specimen
Specimen RequirementsPeripheral blood
Sample Collection1 EDTA (lavender top) tube containing 2-5 mL peripheral blood
Mininum Sample Volume2 ml
Storage/Transport ConditionsAmbient / 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 ConditionsFrozen specimens, use of inappropriate tube type, and clotted or hemolyzed specimens.
CPT Code(s)81479 (Core panel); 81479 (Expanded panel)
Miscellaneous 
Lab Area/Performed ByNGS
Familial Thoracic Aortic Aneurysm and Dissection panel
RequisitionCardiac Sequencing Requisition
Test ComponentsCORE: 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 DetailsExtraction 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.
MethodologyNext Generation Sequencing; aCGH
PerformedMon-Fri
Turnaround3 – 4 weeks from receipt of specimen – NGS (aCGH send out is an additional 3 weeks after completion of NGS)
Specimen RequirementsPeripheral blood
Sample Collection1 EDTA (lavender top) tube containing 2-5 mL peripheral blood
Mininum Sample Volume2 ml
Storage/Transport ConditionsAmbient / 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 ConditionsFrozen 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 ByNGS

Diabetes, Hyperinsulinism and ER Stress

Atypical Diabetes and ER Stress Disorders Gene Panel
RequisitionDiabetes Sequencing Requisition
Test ComponentsNext 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 DetailsExtraction 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.
MethodologyNext Generation Sequencing; aCGH
PerformedMon-Fri
Turnaround4-6 weeks from receipt of specimen; 6 additional weeks for del/dup analysis.
Specimen RequirementsPeripheral blood
Sample Collection1 EDTA (lavender top) tube containing 2-5 mL peripheral blood
Mininum Sample Volume2 ml
Storage/Transport ConditionsAmbient / 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 ConditionsFrozen 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 ByNGS
Endoplasmic Reticulum (ER) Stress Disorders Panel
RequisitionDiabetes Sequencing Requisition
Test ComponentsNext generation sequencing of all coding regions of 5 genes: CISD2, EIF2AK3, IER3IP1, INS and WFS1.</
Test DetailsExtraction 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.
MethodologyNext Generation Sequencing
PerformedMon-Fri
Turnaround4-6 weeks from receipt of specimen
Specimen RequirementsPeripheral blood
Sample Collection1 EDTA (lavender top) tube containing 2-5 mL peripheral blood
Mininum Sample Volume2 ml
Storage/Transport ConditionsAmbient / 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 ByNGS
Hyperinsulinism Panel
RequisitionDiabetes Sequencing Requisition
Test ComponentsNext 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 DetailsExtraction 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.
MethodologyNext Generation Sequencing
PerformedMon-Fri
Turnaround4-6 weeks from receipt of specimen
Specimen RequirementsPeripheral blood
Sample Collection1 EDTA (lavender top) tube containing 2-5 mL peripheral blood
Mininum Sample Volume2 ml
Storage/Transport ConditionsAmbient / 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 ByNGS
Permanent Neonatal Diabetes Mellitus (PNDM) Panel
RequisitionDiabetes Sequencing Requisition
Test ComponentsNext 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 DetailsExtraction 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.
MethodologyNext Generation Sequencing; aCGH
PerformedMon-Fri
Turnaround4-6 weeks from receipt of specimen
Specimen RequirementsPeripheral blood
Sample Collection1 EDTA (lavender top) tube containing 2-5 mL peripheral blood
Mininum Sample Volume2 ml
Storage/Transport ConditionsAmbient / 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 ByNGS
Monogenic Diabetes and MODY Panel
RequisitionDiabetes Sequencing Requisition
Test ComponentsNext 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 DetailsExtraction 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.
MethodologyNext Generation Sequencing; aCGH
PerformedMon-Fri
Turnaround4-6 weeks from receipt of specimen
Specimen RequirementsPeripheral blood
Sample Collection1 EDTA (lavender top) tube containing 2-5 mL peripheral blood
Mininum Sample Volume2 ml
Storage/Transport ConditionsAmbient / 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 ByNGS

Renal Disease

Complement-mediated Renal Disease panel
RequisitionNGS Renal Sequencing Requisition
Test ComponentsNext 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 DetailsExtraction 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.
MethodologyNext Generation Sequencing;MLPA
PerformedMon-Fri
Turnaround4-6 weeks from receipt of specimen
Specimen RequirementsPeripheral blood
Sample Collection1 EDTA (lavender top) tube containing 2-5 mL peripheral blood
Mininum Sample Volume2 ml
Storage/Transport ConditionsAmbient / 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 ConditionsFrozen 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 ByNGS
Alport Syndrome panel
RequisitionNGS Renal Sequencing Requisition
Test ComponentsNext generation sequencing of all coding regions of 3 genes: COL4A3, COL4A4 and COL4A5.

 

aCGH send out in certain cases: COL4A5.

Test DetailsExtraction 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.
MethodologyNext Generation Sequencing; aCGH
PerformedMon-Fri
Turnaround4-6 weeks from receipt of specimen
Specimen RequirementsPeripheral blood
Sample Collection1 EDTA (lavender top) tube containing 2-5 mL peripheral blood
Mininum Sample Volume2 ml
Storage/Transport ConditionsAmbient / 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 ConditionsFrozen 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 ByNGS
Cystic disease and Nephronophthisis panel
RequisitionNGS Renal Sequencing Requisition
Test ComponentsNext 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 DetailsExtraction 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.
MethodologyNext Generation Sequencing
PerformedMon-Fri
Turnaround4-6 weeks from receipt of specimen
Specimen RequirementsPeripheral blood
Sample Collection1 EDTA (lavender top) tube containing 2-5 mL peripheral blood
Mininum Sample Volume2 ml
Storage/Transport ConditionsAmbient / 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 ConditionsFrozen specimens, use of inappropriate tube type, and clotted or hemolyzed specimens.
Special Instructions 
CPT Code(s)81479
Miscellaneous 
Lab Area/Performed ByNGS
Nephrotic Syndrome and Focal Segmental Glomerulosclerosis panel
RequisitionNGS Renal Sequencing Requisition
Test ComponentsNext 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 DetailsExtraction 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.
MethodologyNext Generation Sequencing; aCGH
PerformedMon-Fri
Turnaround4-6 weeks from receipt of specimen
Specimen RequirementsPeripheral blood
Sample Collection1 EDTA (lavender top) tube containing 2-5 mL peripheral blood
Mininum Sample Volume2 ml
Storage/Transport ConditionsAmbient / 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 ConditionsFrozen 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 ByNGS

Clinical Whole Exome Sequencing

Whole Exome Sequencing
RequisitionWhole Exome Sequencing
Test ComponentsNext generation sequencing of the coding regions of the genome
Test DetailsExtraction 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.
MethodologyNext Generation Sequencing
PerformedMon-Fri
Turnaround8 weeks from receipt of specimen
Specimen RequirementsPeripheral blood or Buccal swabs
Sample Collection1 EDTA (lavender top) tube containing 2-5 mL peripheral blood
Mininum Sample Volume2 ml
Storage/Transport ConditionsAmbient / 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 ConditionsFrozen 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 ByNGS