Genetics Laboratory

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Shodair Genetics Laboratory offers advanced genetic testing services for patients of all ages, and provides answers to families through the diagnosis of rare and complex genetic conditions. Traditional genetic technologies are complimented by cutting-edge techniques such as chromosomal microarray analysis, next generation sequencing, and whole exome sequencing. We are a testing source for the world, and provide specialized testing for prenatal, pediatric, and adult patients. Shodair Genetics Laboratory is one of the only laboratories in the United States who performs prenatal methylation testing on direct or cultured chorionic villi and amniocytes.

Working in tandem with the Clinical Genetics Program, state-of-the-art genetic techniques are utilized to provide accurate, affordable diagnoses. Together, our goal is to find a genetic diagnosis if there is one to be found.

Our staff is committed to assisting clinicians in selecting the appropriate testing and providing patients the best possible support in understanding their results. Please contact us at 406-444-7532 for more information. Shodair Genetics Laboratory is located at 2620 Shodair Drive in Helena, MT 59601.

Laboratory Samples and Transport

Shodair Genetics Laboratory is regularly open 8 a.m. to 5 p.m. (MST) Monday through Friday. Laboratory staff are available to accept samples marked for Saturday delivery.

The laboratory’s preferred shipping method is FedEx Priority Overnight. We accept samples Monday-Friday and on Saturday when Saturday Delivery is clearly marked on the FedEx shipping label. If your patient’s sample is collected Friday afternoon or Saturday, we encourage you to wait until Monday to ship the sample. If delivery is urgent, you may wish to use your local courier service. All samples should be sent to Shodair Genetics Laboratory at 2620 Shodair Drive in Helena, MT 59601. Please contact us at 406-444-7532 with any questions regarding sample and transport requirements.

Laboratory Test Request and Consent Forms

Genetic Test Request Form

Whole Exome Sequencing Guide

Whole-Exome Sequencing Test Request Form

Whole Exome Sequencing Test Request Form (Electronic Order)

Patient Whole Exome Sequencing Informed Consent

Family Member Whole Exome Sequencing Informed Consent

Fetal Pathology Forms

Fetal Pathology Complete Instructions

Fetal Pathology Request Form

Authorization for Fetal Studies and Dispatch

Montana DPHHS Authorization for removal, transportation, and final disposition of a dead body

Genetic Test Catalog

Cytogenetic Testing

Direct Interphase Aneuploidy FISH (AneuVysion: Chromosomes 13, 18, 21, X, Y). Reflex to Chromosomal Microarray if Negative. Reflex to Karyotype if Positive.

Acceptable Sample Types

  • Direct Amniotic Fluid: 20-25 milliliters in sterile transport tubes
  • Cultured Amniotic Fluid: Two T25 flasks
  • Whole Blood: 3-5 milliliters (1 milliliter minimum) Sodium Heparin for FISH & Karyotype; 3-5 milliliters (1 milliliter minimum) EDTA for Chromosomal Microarray

Shipping Requirements

  • Room temperature / Ambient / Insulate during extreme weather / Ship same day if possible

CPT Codes

  • Direct Aneuploidy FISH: 88271 x5, 88274 x5
  • Chromosomal Microarray: 81229
  • Karyotype via Amniotic Fluid: 88235, 88269, 88280
  • Karyotype via Chorionic Villi (CVS): 88235, 88267, 88280, 88285

Karyotype (Chromosomes)

Acceptable Sample Types

  • Whole Blood: 3-5 milliliters (1 milliliter minimum) Sodium Heparin
  • Direct Amniotic Fluid: 20-25 milliliters in sterile transport tubes
  • Direct Chorionic Villi (CVS): 20-30 milligrams in sterile transport tubes containing transport media
  • Fresh Tissue: 4 millimeter full thickness skin punch
  • Products of Conception (POC, placenta, and/or villi): 20-30 milligrams (no formalin) 

Shipping Requirements

  • Room temperature / Ambient / Insulate during extreme weather / Ship same day if possible

CPT Codes

  • Karyotype via Whole Blood: 88230, 88262, 88280
  • Karyotype via Amniotic Fluid: 88235, 88269, 88280
  • Karyotype via Chorionic Villi (CVS): 88235, 88267, 88280, 88285
  • Karyotype via Fresh Tissue / Products of Conception: 88233, 88262, 88280

Direct Interphase Aneuploidy FISH (AneuVysion: Chromosomes 13, 18, 21, X, Y)

Acceptable Sample Types

  • Direct Amniotic Fluid: 20-25 milliliters in sterile transport tubes
  • Cultured Amniotic Fluid: Two T25 flasks
  • Whole Blood: 3-5 milliliters (1 milliliter minimum) Sodium Heparin

Shipping Requirements

  • Room temperature / Ambient / Insulate during extreme weather / Ship same day if possible

CPT Codes

  • Direct Aneuploidy FISH: 88271 x5, 88274 x5

Custom FISH

Please contact us at 406-444-7532 to discuss ordering custom FISH.

Acceptable Sample Types

  • Direct Amniotic Fluid: 20-25 milliliters in sterile transport tubes
  • Cultured Amniotic Fluid: Two T25 flasks
  • Whole Blood: 3-5 milliliters (1 milliliter minimum) Sodium Heparin for FISH & Karyotype; 3-5 milliliters (1 milliliter minimum) EDTA for Chromosomal Microarray

Shipping Requirements

  • Room temperature / Ambient / Insulate during extreme weather / Ship same day if possible

Chromosomal Microarray (CMA)

Chromosomal Microarray

Acceptable Sample Types

  • Whole Blood: 3-5 milliliters (1 milliliter minimum) EDTA
  • Saliva: Oragene Dx or ORAcollect Dx
  • Extracted DNA: 3-5 micrograms (2 micrograms minimum)
  • Direct Amniotic Fluid: 20-25 milliliters in sterile transport tubes
  • Cultured Amniotic Fluid: Two T25 flasks
  • Direct Chorionic Villi (CVS): 20-30 milligrams in sterile transport tubes containing transport media
  • Cultured Chorionic Villi (CVS): Two T25 flasks
  • Fresh Tissue: 4 millimeter full thickness skin punch
  • Products of Conception (POC, placenta, villi): 20-30 milligrams (no formalin)

Shipping Requirements

  • Room temperature / Ambient / Insulate during extreme weather / Ship same day if possible

CPT Code

  • Chromosomal Microarray: 81229

Molecular Genetic Testing

Angelman/Prader-Willi Methylation (AS/PWS)

Acceptable Sample Types

  • Whole Blood: 3-5 milliliters (1 milliliter minimum) EDTA
  • Saliva: Oragene Dx or ORAcollect Dx
  • Extracted DNA: 3-5 micrograms (2 micrograms minimum)
  • Direct Amniotic Fluid: 20-25 milliliters in sterile transport tubes
  • Cultured Amniotic Fluid: Two T25 flasks
  • Direct Chorionic Villi (CVS): 20-30 milligrams in sterile transport tubes containing transport media
  • Cultured Chorionic Villi (CVS): Two T25 flasks
  • Fresh Tissue: 4 millimeter full thickness skin punch
  • Products of Conception (POC, placenta, villi): 20-30 milligrams (no formalin)

Shipping Requirements

  • Room temperature / Ambient / Insulate during extreme weather / Ship same day if possible

CPT Code

  • Angelman/Prader-Willi Methylation: 81331

Beckwith-Wiedemann Syndrome (BWS)

KCNQ10T1 & H19 Methylation

Acceptable Sample Types

  • Whole Blood: 3-5 milliliters (1 milliliter minimum) EDTA
  • Saliva: Oragene Dx or ORAcollect Dx
  • Extracted DNA: 3-5 micrograms (2 micrograms minimum)
  • Direct Amniotic Fluid: 20-25 milliliters in sterile transport tubes
  • Cultured Amniotic Fluid: Two T25 flasks
  • Direct Chorionic Villi (CVS): 20-30 milligrams in sterile transport tubes containing transport media
  • Cultured Chorionic Villi (CVS): Two T25 flasks
  • Fresh Tissue: 4 millimeter full thickness skin punch
  • Products of Conception (POC, placenta, villi): 20-30 milligrams (no formalin)

Shipping Requirements

  • Room temperature / Ambient / Insulate during extreme weather / Ship same day if possible

Reflex Testing 

  • Reflex to Uniparental Disomy (UPD) 11 if positive. Parental samples required.

CPT Codes

  • Beckwith-Wiedemann Syndrome (BWS): 81401 x2
  • Reflex Uniparental Disomy 11 (UPD): 81405 x2

Chromosome 14 Methylation (Temple/Kagami-Ogata S.)

Acceptable Sample Types

  • Whole Blood: 3-5 milliliters (1 milliliter minimum) EDTA
  • Saliva: Oragene Dx or ORAcollect Dx
  • Extracted DNA: 3-5 micrograms (2 micrograms minimum)
  • Direct Amniotic Fluid: 20-25 milliliters in sterile transport tubes
  • Cultured Amniotic Fluid: Two T25 flasks
  • Direct Chorionic Villi (CVS): 20-30 milligrams in sterile transport tubes containing transport media
  • Cultured Chorionic Villi (CVS): Two T25 flasks
  • Fresh Tissue: 4 millimeter full thickness skin punch
  • Products of Conception (POC, placenta, villi): 20-30 milligrams (no formalin)

Shipping Requirements

  • Room temperature / Ambient / Insulate during extreme weather / Ship same day if possible

CPT Code

  • Chromosome 14 Methylation: 81401

Duchenne Muscular Dystrophy Deletion/Duplication

Acceptable Sample Types

  • Whole Blood: 3-5 milliliters (1 milliliter minimum) EDTA
  • Saliva: Oragene Dx or ORAcollect Dx
  • Extracted DNA: 3-5 micrograms (2 micrograms minimum)
  • Direct Amniotic Fluid: 20-25 milliliters in sterile transport tubes
  • Cultured Amniotic Fluid: Two T25 flasks
  • Direct Chorionic Villi (CVS): 20-30 milligrams in sterile transport tubes containing transport media
  • Cultured Chorionic Villi (CVS): Two T25 flasks
  • Fresh Tissue: 4 millimeter full thickness skin punch
  • Products of Conception (POC, placenta, villi): 20-30 milligrams (no formalin)

Shipping Requirements

  • Room temperature / Ambient / Insulate during extreme weather / Ship same day if possible

CPT Code 

  • Duchenne Muscular Dystrophy Deletion/Duplication: 81161

Fragile X Syndrome (FMR1)

Acceptable Sample Types

  • Whole Blood: 3-5 milliliters (1 milliliter minimum) EDTA
  • Saliva: Oragene Dx or ORAcollect Dx
  • Extracted DNA: 3-5 micrograms (2 micrograms minimum)
  • Direct Amniotic Fluid: 20-25 milliliters in sterile transport tubes
  • Cultured Amniotic Fluid: Two T25 flasks
  • Direct Chorionic Villi (CVS): 20-30 milligrams in sterile transport tubes containing transport media
  • Cultured Chorionic Villi (CVS): Two T25 flasks
  • Fresh Tissue: 4 millimeter full thickness skin punch
  • Products of Conception (POC, placenta, villi): 20-30 milligrams (no formalin)

Shipping Requirements

  • Room temperature / Ambient / Insulate during extreme weather / Ship same day if possible

CPT Codes

  • Fragile X Syndrome (FMR1) via PCR only: 81243
  • Fragile X Syndrome (FMR1) Additional Characterization of Expansion: 81244

Hemochromatosis (HFE) Mutations (C282Y / H63D)

Acceptable Sample Types

  • Whole Blood: 3-5 milliliters (1 milliliter minimum) EDTA
  • Saliva: Oragene Dx or ORAcollect Dx
  • Extracted DNA: 3-5 micrograms (2 micrograms minimum)
  • Direct Amniotic Fluid: 20-25 milliliters in sterile transport tubes
  • Cultured Amniotic Fluid: Two T25 flasks
  • Direct Chorionic Villi (CVS): 20-30 milligrams in sterile transport tubes containing transport media
  • Cultured Chorionic Villi (CVS): Two T25 flasks
  • Fresh Tissue: 4 millimeter full thickness skin punch
  • Products of Conception (POC, placenta, villi): 20-30 milligrams (no formalin)

Shipping Requirements

  • Room temperature / Ambient / Insulate during extreme weather / Ship same day if possible

CPT Code

  • Hemochromatosis (HFE): 81256

Huntington Disease (HTT) Mutation

Acceptable Sample Types

  • Whole Blood: 3-5 milliliters (1 milliliter minimum) EDTA
  • Saliva: Oragene Dx or ORAcollect Dx
  • Extracted DNA: 3-5 micrograms (2 micrograms minimum)
  • Fresh Tissue: 4 millimeter full thickness skin punch
  • We do not accept prenatal samples for this testing

Shipping Requirements

  • Room temperature / Ambient / Insulate during extreme weather / Ship same day if possible

CPT Code

  • Huntington Disease (HTT): 81271

Maternal Cell Contamination (MCC)

Acceptable Sample Types

  • Whole Blood: 3-5 milliliters (1 milliliter minimum) EDTA
  • Saliva: Oragene Dx or ORAcollect Dx
  • Extracted DNA: 3-5 micrograms (2 micrograms minimum)
  • Direct Amniotic Fluid: 20-25 milliliters in sterile transport tubes
  • Cultured Amniotic Fluid: Two T25 flasks
  • Direct Chorionic Villi (CVS): 20-30 milligrams in sterile transport tubes containing transport media
  • Cultured Chorionic Villi (CVS): Two T25 flasks
  • Fresh Tissue: 4 millimeter full thickness skin punch
  • Products of Conception (POC, placenta, villi): 20-30 milligrams (no formalin)

Shipping Requirements

  • Room temperature / Ambient / Insulate during extreme weather / Ship same day if possible

CPT Code

  • Maternal Cell Contamination (MCC): 81265

Myotonic Dystrophy Type 1 (DM1)

Acceptable Sample Types

  • Whole Blood: 3-5 milliliters (1 milliliter minimum) EDTA
  • Saliva: Oragene Dx or ORAcollect Dx
  • Extracted DNA: 3-5 micrograms (2 micrograms minimum)
  • Direct Amniotic Fluid: 20-25 milliliters in sterile transport tubes
  • Cultured Amniotic Fluid: Two T25 flasks
  • Direct Chorionic Villi (CVS): 20-30 milligrams in sterile transport tubes containing transport media
  • Cultured Chorionic Villi (CVS): Two T25 flasks
  • Fresh Tissue: 4 millimeter full thickness skin punch
  • Products of Conception (POC, placenta, villi): 20-30 milligrams (no formalin)

Shipping Requirements

  • Room temperature / Ambient / Insulate during extreme weather / Ship same day if possible

CPT Codes

  • Myotonic Dystrophy via PCR only: 81234
  • Myotonic Dystrophy Additional Characterization of Expansion: 81239

Parent of Origin Studies for Copy Number Variants

Acceptable Sample Types

  • Whole Blood: 3-5 milliliters (1 milliliter minimum) EDTA
  • Saliva: Oragene Dx or ORAcollect Dx
  • Extracted DNA: 3-5 micrograms (2 micrograms minimum)
  • Direct Amniotic Fluid: 20-25 milliliters in sterile transport tubes
  • Cultured Amniotic Fluid: Two T25 flasks
  • Direct Chorionic Villi (CVS): 20-30 milligrams in sterile transport tubes containing transport media
  • Cultured Chorionic Villi (CVS): Two T25 flasks
  • Fresh Tissue: 4 millimeter full thickness skin punch
  • Products of Conception (POC, placenta, villi): 20-30 milligrams (no formalin)

Shipping Requirements

  • Room temperature / Ambient / Insulate during extreme weather / Ship same day if possible

CPT Codes

  • Parent of Origin Studies for Copy Number Variants: 81405 x2

Russell-Silver Syndrome (RSS)

Acceptable Sample Types

  • Whole Blood: 3-5 milliliters (1 milliliter minimum) EDTA
  • Saliva: Oragene Dx or ORAcollect Dx
  • Extracted DNA: 3-5 micrograms (2 micrograms minimum)
  • Direct Amniotic Fluid: 20-25 milliliters in sterile transport tubes
  • Cultured Amniotic Fluid: Two T25 flasks
  • Direct Chorionic Villi (CVS): 20-30 milligrams in sterile transport tubes containing transport media
  • Cultured Chorionic Villi (CVS): Two T25 flasks
  • Fresh Tissue: 4 millimeter full thickness skin punch
  • Products of Conception (POC, placenta, villi): 20-30 milligrams (no formalin)

Shipping Requirements

  • Room temperature / Ambient / Insulate during extreme weather / Ship same day if possible

Additional Testing

  • Uniparental Disomy (UPD) 7. Parental samples required.

CPT Code

  • Russell-Silver Syndrome (H19 Methylation): 81401
  • Uniparental Disomy (UPD): 81405 x2

Spinal Muscular Atrophy (SMA)

Acceptable Sample Types

  • Whole Blood: 3-5 milliliters (1 milliliter minimum) EDTA
  • Saliva: Oragene Dx or ORAcollect Dx
  • Extracted DNA: 3-5 micrograms (2 micrograms minimum)
  • Direct Amniotic Fluid: 20-25 milliliters in sterile transport tubes
  • Cultured Amniotic Fluid: Two T25 flasks
  • Direct Chorionic Villi (CVS): 20-30 milligrams in sterile transport tubes containing transport media
  • Cultured Chorionic Villi (CVS): Two T25 flasks
  • Fresh Tissue: 4 millimeter full thickness skin punch
  • Products of Conception (POC, placenta, villi): 20-30 milligrams (no formalin)

Shipping Requirements

  • Room temperature / Ambient / Insulate during extreme weather / Ship same day if possible

CPT Code

  • Spinal Muscular Atrophy (SMA): 81329

Uniparental Disomy Screen (UPD)

Acceptable Sample Types

  • Whole Blood: 3-5 milliliters (1 milliliter minimum) EDTA
  • Saliva: Oragene Dx or ORAcollect Dx
  • Extracted DNA: 3-5 micrograms (2 micrograms minimum)
  • Direct Amniotic Fluid: 20-25 milliliters in sterile transport tubes
  • Cultured Amniotic Fluid: Two T25 flasks
  • Direct Chorionic Villi (CVS): 20-30 milligrams in sterile transport tubes containing transport media
  • Cultured Chorionic Villi (CVS): Two T25 flasks
  • Fresh Tissue: 4 millimeter full thickness skin punch
  • Products of Conception (POC, placenta, villi): 20-30 milligrams (no formalin)

Shipping Requirements

  • Room temperature / Ambient / Insulate during extreme weather / Ship same day if possible

CPT Codes

  • Uniparental Disomy Screen (UDP): 81405 x2

X-Chromosome Inactivation

Acceptable Sample Types

  • Whole Blood: 3-5 milliliters (1 milliliter minimum) EDTA
  • Saliva: Oragene Dx or ORAcollect Dx
  • Extracted DNA: 3-5 micrograms (2 micrograms minimum)
  • Direct Amniotic Fluid: 20-25 milliliters in sterile transport tubes
  • Cultured Amniotic Fluid: Two T25 flasks
  • Direct Chorionic Villi (CVS): 20-30 milligrams in sterile transport tubes containing transport media
  • Cultured Chorionic Villi (CVS): Two T25 flasks
  • Fresh Tissue: 4 millimeter full thickness skin punch
  • Products of Conception (POC, placenta, villi): 20-30 milligrams (no formalin)

Shipping Requirements

  • Room temperature / Ambient / Insulate during extreme weather / Ship same day if possible

CPT Code

  • X-Chromosome Inactivation: 81204

Next Generation Sequencing (NGS)

In addition to the panels listed below, we offer custom Next Generation Sequencing panels. Please contact us at 406-444-7532 for a complete list of our available panels or if you have any questions regarding the appropriate panel to order.

Aortopathy (Marfan Syndrome, Loeys-Dietz syndrome, etc.)

Acceptable Sample Types

  • Whole Blood: 3-5 milliliters (1 milliliter minimum) EDTA
  • Saliva: Oragene Dx or ORAcollect Dx
  • Extracted DNA: 3-5 micrograms (2 micrograms minimum)
  • Direct Amniotic Fluid: 20-25 milliliters in sterile transport tubes
  • Cultured Amniotic Fluid: Two T25 flasks
  • Direct Chorionic Villi (CVS): 20-30 milligrams in sterile transport tubes containing transport media
  • Cultured Chorionic Villi (CVS): Two T25 flasks
  • Fresh Tissue: 4 millimeter full thickness skin punch
  • Products of Conception (POC, placenta, villi): 20-30 milligrams (no formalin)

Shipping Requirements

  • Room temperature / Ambient / Insulate during extreme weather / Ship same day if possible

CPT Codes

  • NGS Aortopathy: 81410, 81411

Gene List

  • ACTA2, ADAMTS10, ADAMTS2, ATP7A, BGN, CBS, CHST14, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, CRTAP, EFEMP2, FBN1, FBN2, FKBP14, FLNA, FOXE3, LOX, LTBP1, MED12, MFAP5, MYH11, MYLK, NOTCH1, PLOD1, PRKG1, SKI, SLC2A10, SLC39A13, SMAD2, SMAD3, SMAD4, SMAD6, TGFB2, TGFB3, TGFBR1, TGFBR2

Cardiac Arrhythmia including Long QT Syndrome

Acceptable Sample Types

  • Whole Blood: 3-5 milliliters (1 milliliter minimum) EDTA
  • Saliva: Oragene Dx or ORAcollect Dx
  • Extracted DNA: 3-5 micrograms (2 micrograms minimum)
  • Direct Amniotic Fluid: 20-25 milliliters in sterile transport tubes
  • Cultured Amniotic Fluid: Two T25 flasks
  • Direct Chorionic Villi (CVS): 20-30 milligrams in sterile transport tubes containing transport media
  • Cultured Chorionic Villi (CVS): Two T25 flasks
  • Fresh Tissue: 4 millimeter full thickness skin punch
  • Products of Conception (POC, placenta, villi): 20-30 milligrams (no formalin)

Shipping Requirements

  • Room temperature / Ambient / Insulate during extreme weather / Ship same day if possible

CPT Codes

  • NGS Cardiac Arrhythmia: 81413, 81414

Gene List

  • ABCC9, ACTC1, ACTN2, AKAP9, ANK2, ANKRD1, BAG3, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, CDH2, CTNNA3, DBH, DEPDC5, DES, DSC2, DSG2, DSP, DTNA, EMD, FLNC, GATA4, GATA5, GATA6, GJA5, GPD1L, HADHA, HCN4, JUP, KCNA1, KCNA5, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNK3, KCNQ1, KCNQ2, KCNQ3, KCNT1, LDB3, LEMD2, LMNA, MIB1, MYBPC3, MYH7, MYL4, NKX2-5, NOS1AP, NPPA, NUP155, PCDH19, PDLIM3, PKP2, PLN, PPA2, PRDM16, PRKAG2, PRRT2, RANGRF, RBM20, RYR2, SALL4, SCN10A, SCN1A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCN8A, SCN9A, SLC12A3, SLC2A1, SLMAP, SNTA1, TANGO2, TBX5, TECRL, TMEM43, TNNI3, TNNT2, TPM1, TRDN, TRPM4, TTN

Charcot-Marie-Tooth Disease

Acceptable Sample Types

  • Whole Blood: 3-5 milliliters (1 milliliter minimum) EDTA
  • Saliva: Oragene Dx or ORAcollect Dx
  • Extracted DNA: 3-5 micrograms (2 micrograms minimum)
  • Direct Amniotic Fluid: 20-25 milliliters in sterile transport tubes
  • Cultured Amniotic Fluid: Two T25 flasks
  • Direct Chorionic Villi (CVS): 20-30 milligrams in sterile transport tubes containing transport media
  • Cultured Chorionic Villi (CVS): Two T25 flasks
  • Fresh Tissue: 4 millimeter full thickness skin punch
  • Products of Conception (POC, placenta, villi): 20-30 milligrams (no formalin)

Shipping Requirements

  • Room temperature / Ambient / Insulate during extreme weather / Ship same day if possible

CPT Codes

  • NGS Charcot-Marie-Tooth Disease: 81324, 81325, 81406

Gene List

  • AARS1, AIFM1, ATP1A1, BAG3, BSCL2, COX6A1, DHTKD1, DNAJB2, DNM2, DRP2, DYNC1H1, EGR2, FBLN5, FGD4, FIG4, GARS1, GDAP1, GJB1, GNB4, HARS1, HINT1, HSPB1, HSPB8, IGHMBP2, INF2, KIF5A, LITAF, LMNA, LRSAM1, MARS, MCM3AP, MED25, MFN2, MME, MORC2, MPZ, MTMR2, NDRG1, NEFH, NEFL, PDK3, PLEKHG5, PMP2, PMP22, PRPS1, PRX, RAB7A, SBF1, SBF2, SH3TC2, SLC25A46, SPG11, SURF1, TFG, TRIM2, TRPV4, YARS1

Comprehensive Cardiomyopathy

Acceptable Sample Types

  • Whole Blood: 3-5 milliliters (1 milliliter minimum) EDTA
  • Saliva: Oragene Dx or ORAcollect Dx
  • Extracted DNA: 3-5 micrograms (2 micrograms minimum)
  • Direct Amniotic Fluid: 20-25 milliliters in sterile transport tubes
  • Cultured Amniotic Fluid: Two T25 flasks
  • Direct Chorionic Villi (CVS): 20-30 milligrams in sterile transport tubes containing transport media
  • Cultured Chorionic Villi (CVS): Two T25 flasks
  • Fresh Tissue: 4 millimeter full thickness skin punch
  • Products of Conception (POC, placenta, villi): 20-30 milligrams (no formalin)

Shipping Requirements

  • Room temperature / Ambient / Insulate during extreme weather / Ship same day if possible

CPT Code

  • NGS Comprehensive Cardiomyopathy: 81439

Gene List

  • AARS2, ABCC6, ABCC9, ACAD9, ACADVL, ACTA1, ACTC1, ACTN2, AGK, AGL, ALMS1, ALPK3, ANKRD1, ANO5, APOA1, BAG3, BRAF, CACNA1C, CALR3, CAPN3, CASQ2, CASZ1, CAV3, CAVIN4, CBL, CDH2, CHKB, CHRM2, COX15, CPT2, CRPPA, CRYAB, CSRP3, CTNNA3, DBH, DES, DMD, DNAJC19, DOLK, DPM3, DPP6, DSC2, DSG2, DSP, DTNA, DYSF, EEF1A2, ELAC2, EMD, EPG5, ETFA, ETFB, ETFDH, EYA4, FBXL4, FBXO32, FHL1, FHL2, FHOD3, FKRP, FKTN, FLNC, FOXD4, FOXRED1, FXN, GAA, GATA4, GATA6, GATAD1, GATC, GBE1, GFM1, GLA, GLB1, GMPPB, GSK3B, GTPBP3, GUSB, HADHA, HAND1, HCN4, HFE, HRAS, IDUA, ILK, JPH2, JUP, KLHL24, KRAS, LAMA2, LAMA4, LAMP2, LARGE1, LDB3, LEMD2, LMNA, LMOD2, LRRC10, LZTR1, MAP2K1, MAP2K2, MAP3K8, MIB1, MIPEP, MLYCD, MRAS, MTO1, MYBPC3, MYBPHL, MYH6, MYH7, MYL2, MYL3, MYL4, MYLK2, MYO6, MYOT, MYOZ2, MYPN, MYRF, NDUFAF2, NDUFB11, NEBL, NEXN, NF1, NKX2-5, NONO, NRAP, NRAS, PCCA, PCCB, PDLIM3, PKP2, PLEC, PLEKHM2, PLN, PNPLA2, PPA2, PPCS, PPP1CB, PRDM16, PRKAG2, PRKAR1A, PTPN11, QRSL1, RAF1, RASA2, RBCK1, RBM20, RIT1, RMND1, RRAS, RYR2, SCN5A, SCNN1B, SCNN1G, SCO1, SCO2, SDHA, SELENON, SGCA, SGCB, SGCD, SGCG, SHOC2, SLC22A5, SLC25A20, SLC25A4, SMCHD1, SOS1, SOS2, SPEG, SPRED1, TAB2, TANGO2, TAZ, TBX20, TBX5, TCAP, TGFB3, TGFBR2, TMEM43, TMEM70, TMPO, TNNC1, TNNI3, TNNI3K, TNNT2, TOR1AIP1, TPM1, TRIM32, TSFM, TTN, TTR, TXNRD2, VCL, VCP, VPS13A, XK

Ehlers-Danlos Syndromes and Overlapping Hypermobility Syndromes

Acceptable Sample Types

  • Whole Blood: 3-5 milliliters (1 milliliter minimum) EDTA
  • Saliva: Oragene Dx or ORAcollect Dx
  • Extracted DNA: 3-5 micrograms (2 micrograms minimum)
  • Direct Amniotic Fluid: 20-25 milliliters in sterile transport tubes
  • Cultured Amniotic Fluid: Two T25 flasks
  • Direct Chorionic Villi (CVS): 20-30 milligrams in sterile transport tubes containing transport media
  • Cultured Chorionic Villi (CVS): Two T25 flasks
  • Fresh Tissue: 4 millimeter full thickness skin punch
  • Products of Conception (POC, placenta, villi): 20-30 milligrams (no formalin)

Shipping Requirements

  • Room temperature / Ambient / Insulate during extreme weather / Ship same day if possible

CPT Code

  • NGS Ehlers-Danlos Syndromes and Overlapping Hypermobility Syndromes: 81408

Gene List

  • ACTA2, ADAMTS2, AEBP1, ALDH18A1, ATP6V0A2, ATP7A, B3GALT6, B4GALT7, C1R, C1S, CBS, CHST14, COL11A1, COL11A2, COL12A1, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL9A1, COL9A2, CRTAP, DSE, EFEMP2, ELN, FBLN5, FBN1, FBN2, FKBP14, FLNA, LTBP4, MED12, MYLK, NOTCH1, PLOD1, PRDM5, PYCR1, RIN2, SKI, SLC2A10, SLC39A13, SMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2, TGFBR3, TNXB, ZNF469

Epilepsy

Acceptable Sample Types

  • Whole Blood: 3-5 milliliters (1 milliliter minimum) EDTA
  • Saliva: Oragene Dx or ORAcollect Dx
  • Extracted DNA: 3-5 micrograms (2 micrograms minimum)
  • Direct Amniotic Fluid: 20-25 milliliters in sterile transport tubes
  • Cultured Amniotic Fluid: Two T25 flasks
  • Direct Chorionic Villi (CVS): 20-30 milligrams in sterile transport tubes containing transport media
  • Cultured Chorionic Villi (CVS): Two T25 flasks
  • Fresh Tissue: 4 millimeter full thickness skin punch
  • Products of Conception (POC, placenta, villi): 20-30 milligrams (no formalin)

Shipping Requirements

  • Room temperature / Ambient / Insulate during extreme weather / Ship same day if possible

CPT Code

  • NGS Epilepsy Comprehensive: 81419

Gene List

  • AARS1, ABAT, ABCA2, ABCD1, ACTL6B, ADAM22, ADAR, ADPRHL2, ADSL, AFG3L2, AGA, AIFM1, AIMP1, ALDH3A2, ALDH5A1, ALDH7A1, ALG1, ALG12, ALG13, ALG6, ALKBH8, AMACR, AMT, ANKRD11, AP2M1, AP3B2, AP4B1, AP4E1, AP4M1, AP4S1, APOPT1, ARG1, ARHGEF15, ARHGEF9, ARID1B, ARSA, ARX, ASAH1, ASNS, ASPA, ASXL3, ATAD1, ATP13A2, ATP1A2, ATP1A3, ATP6AP2, ATP6V1A, ATRX, BRAT1, BTD, C12ORF57, CACNA1A, CACNA1B, CACNA1D, CACNA1E, CACNA1G, CACNA1H, CACNA2D2, CACNB4, CAD, CAMK2B, CARS2, CASK, CASR, CC2D1A, CCDC88A, CDK9, CDKL5, CERS1, CHD2, CHRNA2, CHRNA4, CHRNA7, CHRNB2, CILK1, CLCN2, CLCN4, CLCN6, CLN3, CLN5, CLN6, CLN8, CLTC, CNKSR2, CNPY3, CNTN2, CNTNAP2, COA7, COG5, COL18A1, COL4A1, COL4A3BP, COX15, COX6B1, CPT2, CSF1R, CSNK2B, CSTB, CTC1, CTNNB1, CTSD, CTSF, CUL4B, CYFIP2, CYP27A1, D2HGDH, DARS, DARS2, DCX, DDC, DDX3X, DEAF1, DEGS1, DENND5A, DEPDC5, DHCR7, DHDDS, DHFR, DHPS, DIAPH1, DNAJC5, DNM1, DNM1L, DOCK7, DPYD, DPYS, DYNC1H1, DYRK1A, EARS2, ECHS1, ECM1, EEF1A2, EFHC1, EHMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF3F, EMC1, EPM2A, EPRS, ETFA, ETFB, ETFDH, ETHE1, FA2H, FAM126A, FAR1, FARS2, FASN, FBXO11, FDFT1, FDX1L, FGF12, FH, FLNA, FOLR1, FOXG1, FOXRED1, FRRS1L, FUT8, GABBR2, GABRA1, GABRB1, GABRB2, GABRB3, GABRG2, GALC, GAMT, GATAD2B, GATM, GCDH, GCH1, GFAP, GFM1, GFM2, GJC2, GLB1, GLDC, GLRA1, GLRB, GNAO1, GNB1, GNE, GOLGA2, GOSR2, GPAA1, GPHN, GRIA3, GRIA4, GRIK2, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRN, GTPBP3, GUF1, HACE1, HCN1, HCN2, HECW2, HEPACAM, HEXA, HIBCH, HNRNPU, HSD17B10, HSPD1, HTRA1, HTT, IBA57, IDH3A, IER3IP1, IFIH1, IQSEC2, IRF2BPL, ITPA, KANSL1, KCNA1, KCNA2, KCNB1, KCNC1, KCND2, KCNH1, KCNH2, KCNH5, KCNJ10, KCNK4, KCNMA1, KCNQ2, KCNQ3, KCNQ5, KCNT1, KCNT2, KCTD3, KCTD7, KDM5C, KDM6A, KIF1A, KIF2A, KIF5A, KMT2E, KPNA7, L2HGDH, LAMC3, LGI1, LIAS, LMNB1, LMNB2, LRPPRC, LYRM7, MACF1, MAGI2, MARS2, MBD5, MBOAT7, MDH2, MECP2, MED12, MED17, MEF2C, MFSD8, MLC1, MOCS1, MOCS2, MOCS3, MRPL44, MTFMT, MTHFR, MTOR, NACC1, NAGLU, NALCN, NBEA, NDST1, NDUFAF3, NDUFAF5, NDUFAF6, NDUFS2, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NECAP1, NEDD4L, NEU1, NEUROD2, NEXMIF, NFU1, NGLY1, NHLRC1, NKX6-2, NOTCH3, NPC1, NPC2, NPRL3, NR2F1, NRXN1, NT5C2, NTRK2, NUBPL, NUS1, OFD1, OPHN1, P4HTM, PACS1, PACS2, PAFAH1B1, PARS2, PCDH19, PCLO, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PGK1, PHACTR1, PHF6, PHGDH, PIGA, PIGB, PIGC, PIGG, PIGN, PIGO, PIGP, PIGQ, PIGS, PIGT, PIGV, PIGW, PIK3AP1, PITRM1, PLAA, PLCB1, PLP1, PNKD, PNKP, PNPO, PNPT1, POLG, POLR3A, POLR3B, PPP2CA, PPP2R1A, PPP2R5D, PPP3CA, PPT1, PRDM8, PRICKLE1, PRICKLE2, PRIMA1, PRODH, PRRT2, PSAP, PSAT1, PSPH, PTPN23, PTS, PUM1, PURA, PYCR2, QARS, QDPR, QRICH1, RAB11A, RAB11B, RAB39B, RAI1, RALA, RANBP2, RARS, RBFOX1, RBFOX3, RELN, RFT1, RHOBTB2, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF13, RNF216, ROGDI, RORB, RUSC2, SAMHD1, SATB2, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SCO1, SCP2, SDHAF1, SERAC1, SERPINI1, SETBP1, SETD1A, SGCE, SGSH, SHANK3, SIK1, SLC12A5, SLC13A5, SLC19A3, SLC1A2, SLC1A4, SLC25A1, SLC25A12, SLC25A15, SLC25A22, SLC25A42, SLC2A1, SLC35A2, SLC39A8, SLC46A1, SLC6A1, SLC6A5, SLC6A8, SLC9A6, SMARCA2, SMC1A, SMS, SNAP25, SNIP1, SNX27, SOX10, SPATA5, SPTAN1, SPTBN4, ST3GAL3, ST3GAL5, STAG2, STRADA, STX1B, STXBP1, STXBP2, SUMF1, SUOX, SYN1, SYNGAP1, SYNJ1, SZT2, TAF1, TANGO2, TBC1D20, TBC1D24, TBCD, TBCE, TBCK, TBL1XR1, TCF4, TH, TK2, TPK1, TPP1, TRAK1, TREX1, TRIM8, TSC1, TSC2, TSFM, TTC19, TUBA8, TUBB2A, UBA5, UBE2A, UBE3A, UNC80, VAMP2, VARS, VPS13A, WARS2, WASF1, WDR26, WDR45, WWOX, YWHAG, YY1, ZDHHC9, ZEB2, ZFYVE26, ZSWIM6

Hearing Loss

Acceptable Sample Types

  • Whole Blood: 3-5 milliliters (1 milliliter minimum) EDTA
  • Saliva: Oragene Dx or ORAcollect Dx
  • Extracted DNA: 3-5 micrograms (2 micrograms minimum)
  • Direct Amniotic Fluid: 20-25 milliliters in sterile transport tubes
  • Cultured Amniotic Fluid: Two T25 flasks
  • Direct Chorionic Villi (CVS): 20-30 milligrams in sterile transport tubes containing transport media
  • Cultured Chorionic Villi (CVS): Two T25 flasks
  • Fresh Tissue: 4 millimeter full thickness skin punch
  • Products of Conception (POC, placenta, villi): 20-30 milligrams (no formalin)

Shipping Requirements

  • Room temperature / Ambient / Insulate during extreme weather / Ship same day if possible

CPT Codes

  • NGS Hearing Loss: 81430, 81431

Gene List

  • ABHD12, ABHD5, ACOX1, ACTB, ACTG1, ADCY1, ADGRV1, AIFM1, ALMS1, ANKRD11, ANLN, AP1B1, ARSB, ARSG, ATP2B2, ATP6V1B1, ATP6V1B2, BCS1L, BDP1, BSND, BTD, CABP2, CACNA1D, CCDC50, CD151, CD164, CDC14A, CDC42, CDH23, CEACAM16, CEP250, CEP78, CHD7, CHSY1, CIB2, CISD2, CLDN14, CLDN9, CLIC5, CLPP, CLRN1, COCH, COL11A1, COL11A2, COL2A1, COL4A3, COL4A4, COL4A5, COL4A6, COL9A1, COL9A2, COL9A3, CRYM, DCAF17, DCDC2, DIABLO, DIAPH1, DIAPH3, DLX5, DMXL2, DNMT1, DSPP, EDN3, EDNRA, EDNRB, EFTUD2, EIF3F, ELMOD3, EPS8, EPS8L2, ERAL1, ESPN, ESRRB, EYA1, EYA4, FDXR, FGF3, FGFR3, FITM2, FOXC1, FOXI1, GATA3, GDF6, GIPC3, GJA1, GJB1, GJB2, GJB3, GJB6, GPRASP2, GPSM2, GRAP, GREB1L, GRHL2, GRXCR1, GRXCR2, GSDME, HARS, HARS2, HGF, HOMER2, HOXA2, HOXB1, HSD17B4, ILDR1, JAG1, KARS1, KCNE1, KCNJ10, KCNQ1, KCNQ4, KIT, KITLG, LARS2, LHFPL5, LHX3, LMX1A, LOXHD1, LOXL3, LRP2, LRTOMT, MAN2B1, MANBA, MARVELD2, MCM2, MEOX1, MET, MGP, MITF, MSRB3, MYH14, MYH7B, MYH9, MYO15A, MYO18B, MYO3A, MYO6, MYO7A, NARS2, NDP, NDRG1, NF2, NLRP3, NOG, OPA1, OSBPL2, OTOA, OTOF, OTOG, OTOGL, P2RX2, PAX3, PCDH15, PCGF2, PDE1C, PDZD7, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, PISD, PJVK, PLS1, PMP22, PNPT1, POLR1C, POLR1D, POU3F4, POU4F3, PRPS1, RAI1, RDX, REST, RIPOR2, RMND1, ROR1, RPS6KA3, S1PR2, SALL1, SALL4, SEMA3E, SERAC1, SERPINB6, SH3TC2, SIX1, SIX5, SLC12A2, SLC17A8, SLC19A2, SLC22A4, SLC26A4, SLC26A5, SLC29A3, SLC33A1, SLC44A4, SLC4A11, SLC52A2, SLC52A3, SLC9A1, SLITRK6, SMAD4, SMPX, SNAI2, SOX10, SOX2, SPATA5, SPNS2, STAG2, STRC, SUCLA2, SYNE4, TBC1D24, TBL1X, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMC1, TMEM132E, TMIE, TMPRSS3, TNC, TPRN, TRIOBP, TRRAP, TSPEAR, TUBB4B, TWNK, UBR1, USH1C, USH1G, USH2A, VCAN, WBP2, WFS1, WHRN, ZNF469

Maturity Onset Diabetes of the Young (MODY)

Acceptable Sample Types

  • Whole Blood: 3-5 milliliters (1 milliliter minimum) EDTA
  • Saliva: Oragene Dx or ORAcollect Dx
  • Extracted DNA: 3-5 micrograms (2 micrograms minimum)
  • Direct Amniotic Fluid: 20-25 milliliters in sterile transport tubes
  • Cultured Amniotic Fluid: Two T25 flasks
  • Direct Chorionic Villi (CVS): 20-30 milligrams in sterile transport tubes containing transport media
  • Cultured Chorionic Villi (CVS): Two T25 flasks
  • Fresh Tissue: 4 millimeter full thickness skin punch
  • Products of Conception (POC, placenta, villi): 20-30 milligrams (no formalin)

Shipping Requirements

  • Room temperature / Ambient / Insulate during extreme weather / Ship same day if possible

CPT Codes

  • NGS MODY: 81404, 81405, 81406

Gene List

  • ABCC8, BLK, CEL, GATA6, GCK, GLUD1, HADH, HNF1A, HNF1B, HNF4A, INS, KCNJ11, KLF11, NEUROD1, PAX4, PDX1, RFX1, WFS1

Neuromuscular Disorders

Acceptable Sample Types

  • Whole Blood: 3-5 milliliters (1 milliliter minimum) EDTA
  • Saliva: Oragene Dx or ORAcollect Dx
  • Extracted DNA: 3-5 micrograms (2 micrograms minimum)
  • Direct Amniotic Fluid: 20-25 milliliters in sterile transport tubes
  • Cultured Amniotic Fluid: Two T25 flasks
  • Direct Chorionic Villi (CVS): 20-30 milligrams in sterile transport tubes containing transport media
  • Cultured Chorionic Villi (CVS): Two T25 flasks
  • Fresh Tissue: 4 millimeter full thickness skin punch
  • Products of Conception (POC, placenta, villi): 20-30 milligrams (no formalin)

Shipping Requirements

  • Room temperature / Ambient / Insulate during extreme weather / Ship same day if possible

CPT Code

  • NGS Neuromuscular Disorders: 81408

Gene List 

  • ACTA1, ADSSL1, AGL, AGRN, AIFM1, ALG14, ALG2, AMPD1, AMPD3, ANO5, ASAH1, ATP2A1, ATP7A, B3GALNT2, B4GAT1, BAG3, BICD2, BIN1, BSCL2, BVES, CACNA1S, CAPN1, CAPN3, CASQ1, CAV3, CAVIN1, CCDC78, CFL2, CHAT, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CLCN1, CNTN1, COL12A1, COL13A1, COL6A1, COL6A2, COL6A3, COLQ, CRPPA, CRYAB, CTDP1, DAG1, DCTN1, DES, DMD, DNAJB2, DNAJB6, DNM2, DOK7, DPAGT1, DPM1, DPM2, DPM3, DYNC1H1, DYSF, ECEL1, EGR2, EMD, FBLN5, FBXO38, FGD4, FHL1, FIG4, FKRP, FKTN, FLNC, GAA, GAN, GBE1, GDAP1, GFPT1, GJB1, GLDN, GLE1, GMPPB, GNE, GOSR2, HK1, HNRNPA1, HNRNPA2B1, HNRNPDL, HSPB1, HSPB8, IGHMBP2, INF2, ISCU, ITGA7, KBTBD13, KIF5A, KLHL40, KLHL41, KLHL9, KY, LAMA2, LAMP2, LARGE1, LDB3, LIMS2, LITAF, LMNA, LMOD3, LRSAM1, MATR3, MED25, MEGF10, MFN2, MICU1, MMEL1, MPZ, MTM1, MTMR14, MTMR2, MUSK, MYF6, MYH2, MYH3, MYH7, MYO18B, MYOT, MYPN, NALCN, NDRG1, NEB, NEFL, PABPN1, PAX7, PEX1, PEX12, PEX14, PEX2, PEX26, PEX3, PEX5, PEX6, PFKM, PHKA1, PLEC, PLEKHG5, PMM2, PMP22, PNPLA2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PREPL, PRPS1, PRX, PYGM, PYROXD1, RAB7A, RAPSN, REEP1, RXYLT1, RYR1, RYR2, SBF2, SCN4A, SELENON, SETX, SGCA, SGCB, SGCD, SGCE, SGCG, SH3TC2, SIL1, SLC18A3, SLC52A2, SLC52A3, SLC5A7, SMCHD1, SNAP25, SPEG, SQSTM1, STAC3, STIM1, SYNE1, SYNE2, SYT2, TBCK, TCAP, TIA1, TMEM43, TNNI2, TNNT1, TNNT3, TNPO3, TOR1AIP1, TPM2, TPM3, TRAPPC11, TRIM32, TRIP4, TRPV4, TTN, UBA1, UNC80, VCP, VMA21, VRK1

Noonan Syndrome

Acceptable Sample Types

  • Whole Blood: 3-5 milliliters (1 milliliter minimum) EDTA
  • Saliva: Oragene Dx or ORAcollect Dx
  • Extracted DNA: 3-5 micrograms (2 micrograms minimum)
  • Direct Amniotic Fluid: 20-25 milliliters in sterile transport tubes
  • Cultured Amniotic Fluid: Two T25 flasks
  • Direct Chorionic Villi (CVS): 20-30 milligrams in sterile transport tubes containing transport media
  • Cultured Chorionic Villi (CVS): Two T25 flasks
  • Fresh Tissue: 4 millimeter full thickness skin punch
  • Products of Conception (POC, placenta, villi): 20-30 milligrams (no formalin)

Shipping Requirements

  • Room temperature / Ambient / Insulate during extreme weather / Ship same day if possible

CPT Code

  • NGS Noonan Syndrome: 81442

Gene List

  • A2ML1, BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, MAPK1, MRAS, NF1, NRAS, PPP1CB, PTPN11, RAF1, RIT1, RRAS, RRAS2, SHOC2, SOS1, SOS2, SPRED1, SPRED2

Osteogenesis Imperfecta

Acceptable Sample Types

  • Whole Blood: 3-5 milliliters (1 milliliter minimum) EDTA
  • Saliva: Oragene Dx or ORAcollect Dx
  • Extracted DNA: 3-5 micrograms (2 micrograms minimum)
  • Direct Amniotic Fluid: 20-25 milliliters in sterile transport tubes
  • Cultured Amniotic Fluid: Two T25 flasks
  • Direct Chorionic Villi (CVS): 20-30 milligrams in sterile transport tubes containing transport media
  • Cultured Chorionic Villi (CVS): Two T25 flasks
  • Fresh Tissue: 4 millimeter full thickness skin punch
  • Products of Conception (POC, placenta, villi): 20-30 milligrams (no formalin)

Shipping Requirements

  • Room temperature / Ambient / Insulate during extreme weather / Ship same day if possible

CPT Code

  • NGS Osteogenesis Imperfect: 81408

Gene List

  • ALPL, ANO5, BMP1, COL1A1, COL1A2, CREB3L1, CRTAP, FKBP10, IFITM5, LRP5, MBTPS2, MESD, P3H1, P4HB, PLOD2, PLS3, PPIB, SEC24D, SERPINF1, SERPINH1, SP7, SPARC, TAPT1, TMEM38B, WNT1

Short Stature

Acceptable Sample Types

  • Whole Blood: 3-5 milliliters (1 milliliter minimum) EDTA
  • Saliva: Oragene Dx or ORAcollect Dx
  • Extracted DNA: 3-5 micrograms (2 micrograms minimum)
  • Direct Amniotic Fluid: 20-25 milliliters in sterile transport tubes
  • Cultured Amniotic Fluid: Two T25 flasks
  • Direct Chorionic Villi (CVS): 20-30 milligrams in sterile transport tubes containing transport media
  • Cultured Chorionic Villi (CVS): Two T25 flasks
  • Fresh Tissue: 4 millimeter full thickness skin punch
  • Products of Conception (POC, placenta, villi): 20-30 milligrams (no formalin)

Shipping Requirements

  • Room temperature / Ambient / Insulate during extreme weather / Ship same day if possible

CPT Codes

  • NGS Short Stature: 81404, 81405, 81406

Gene List 

  • ACAN, ACP5, ACTB, ACTG1, AGPS, AMMECR1, ANKH, ANO5, ARCN1, ARSL, ATR, ATRX, B3GALT6, B3GAT3, BCS1L, BLM, BMP2, BMPR1B, BRAF, BTK, CANT1, CBL, CCDC8, CDC45, CDC6, CDT1, CENPJ, CEP152, CEP63, CHST14, CHST3, CILK1, COL10A1, COL11A1, COL11A2, COL1A1, COL27A1, COL2A1, COL9A1, COL9A2, COL9A3, COMP, CREBBP, CTSK, CUL7, DDR2, DHCR24, DHCR7, DLL3, DONSON, DYM, DYNC2H1, EBP, EIF2AK3, EP300, ERCC6, ERCC8, EVC, EVC2, EXT1, EXT2, FAM20C, FBN1, FGD1, FGFR1, FGFR2, FGFR3, FLNA, FLNB, FN1, GDF5, GH1, GHR, GHRHR, GHSR, GLI2, GLI3, GNAS, GPC6, HDAC8, HES7, HESX1, HMGA2, HRAS, HSPG2, IDUA, IFT122, IFT140, IFT80, IGF1, IGF1R, IGFALS, IHH, INSR, IRS1, KDM6A, KIF22, KMT2D, KRAS, LARP7, LFNG, LHX3, LHX4, LIFR, LZTR1, MAP2K1, MAP2K2, MATN3, MESP2, MMP13, MMP9, NBN, NEK1, NIPBL, NKX3-2, NOTCH2, NPR2, NRAS, OBSL1, ORC1, ORC4, ORC6, OSGEP, OTX2, PAPSS2, PCNT, PIK3R1, PISD, PITX2, POC1A, POP1, POU1F1, PPP3CA, PRKAR1A, PRMT7, PROP1, PTH1R, PTPN11, PUF60, RAD21, RAF1, RALA, RASA2, RBBP8, RIT1, RNU4ATAC, ROR2, RPS6KA3, RRAS, RTTN, RUNX2, SGMS2, SH3PXD2B, SHOC2, SHOX, SLC26A2, SLC35D1, SLC39A13, SMARCA2, SMARCA4, SMARCAL1, SMARCE1, SMC1A, SMC3, SOS1, SOX11, SOX2, SOX3, SOX9, SRCAP, STAT5B, SULF1, TALDO1, TBCE, TBX19, TBX2, TBX3, TBX6, THRA, THRB, TOP3A, TRIM37, TRIP11, TRMT10A, TRPS1, TRPV4, WDR35, WNT5A, WRN, XRCC4

Skeletal Dysplasia

Acceptable Sample Types

  • Whole Blood: 3-5 milliliters (1 milliliter minimum) EDTA
  • Saliva: Oragene Dx or ORAcollect Dx
  • Extracted DNA: 3-5 micrograms (2 micrograms minimum)
  • Direct Amniotic Fluid: 20-25 milliliters in sterile transport tubes
  • Cultured Amniotic Fluid: Two T25 flasks
  • Direct Chorionic Villi (CVS): 20-30 milligrams in sterile transport tubes containing transport media
  • Cultured Chorionic Villi (CVS): Two T25 flasks
  • Fresh Tissue: 4 millimeter full thickness skin punch
  • Products of Conception (POC, placenta, villi): 20-30 milligrams (no formalin)

Shipping Requirements

  • Room temperature / Ambient / Insulate during extreme weather / Ship same day if possible

CPT Code

  • NGS Skeletal Dysplasia: 81443

Gene List 

  • ACAN, ACP5, AGPS, ALPL, ANKH, ANO5, ARHGAP31, ARSL, ATP6V0A2, B3GALT6, B4GALT7, BMP1, BMP2, BMPR1B, CA2, CANT1, CASR, CC2D2A, CDH3, CDKN1C, CEP290, CHST14, CHST3, CHSY1, CILK1, CLCN5, CLCN7, COL10A1, COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, COL9A1, COL9A2, COL9A3, COMP, CRTAP, CTSK, CUL7, DDR2, DHCR24, DLL3, DLX3, DMP1, DYM, DYNC2H1, EBP, EIF2AK3, ENPP1, ESCO2, EVC, EVC2, EXT1, EXT2, FAM20C, FBLN1, FBN1, FBXW4, FERMT3, FGF10, FGF23, FGFR1, FGFR2, FGFR3, FIG4, FKBP10, FLNA, FLNB, FMN1, GALNT3, GDF5, GLI3, GNAS, GNPAT, GORAB, GPC6, GREM1, HDAC4, HES7, HOXD13, HPGD, HSPG2, IFITM5, IFT122, IFT140, IFT80, IHH, INPPL1, KIF22, KIF7, LBR, LEMD3, LFNG, LIFR, LMBR1, LMNA, LRP4, LRP5, MAFB, MATN3, MESP2, MGP, MKS1, MMP13, MMP2, MMP9, MYCN, NEK1, NIPBL, NKX3-2, NOG, NOTCH2, NPR2, NSDHL, OBSL1, OSTM1, P3H1, PAPSS2, PCNT, PEX7, PHEX, PIGV, PITX1, PLOD2, POR, PPIB, PRKAR1A, PTH1R, PTHLH, PTPN11, PYCR1, RASGRP2, RECQL4, RMRP, ROR2, RPGRIP1L, RUNX2, SALL1, SALL4, SBDS, SERPINF1, SERPINH1, SH3PXD2B, SHH, SHOX, SLC26A2, SLC34A3, SLC35D1, SLC39A13, SMARCAL1, SOST, SOX9, SP7, SULF1, TBCE, TBX15, TBX3, TBX5, TBX6, TBXAS1, TCIRG1, TCTN3, TGFB1, THPO, TMEM216, TMEM67, TNFRSF11A, TNFRSF11B, TNFSF11, TP63, TREM2, TRIP11, TRPS1, TRPV4, TTC21B, TYROBP, WDR19, WDR35, WISP3, WNT3, WNT5A, WNT7A, ZMPSTE24

Whole Exome Sequencing (WES)

Singleton Whole Exome Sequencing

When there are no biological parents or family members available to participate in Whole Exome Sequencing with the patient.

Acceptable Sample Types

  • Whole Blood: 3-5 milliliters (1 milliliter minimum) EDTA
  • Saliva: Oragene Dx or ORAcollect Dx
  • Extracted DNA: 3-5 micrograms (2 micrograms minimum)
  • Fresh Tissue: 4 millimeter full thickness skin punch

Shipping Requirements

  • Room temperature / Ambient / Insulate during extreme weather / Ship same day if possible

CPT Code

  • Singleton Whole Exome Sequencing: 81415

Duo Whole Exome Sequencing

When one biological parent or family member is available to participate in Whole Exome Sequencing with the patient.

Acceptable Sample Types

  • Whole Blood: 3-5 milliliters (1 milliliter minimum) EDTA
  • Saliva: Oragene Dx or ORAcollect Dx
  • Extracted DNA: 3-5 micrograms (2 micrograms minimum)
  • Fresh Tissue: 4 millimeter full thickness skin punch

Shipping Requirements

  • Room temperature / Ambient / Insulate during extreme weather / Ship same day if possible

CPT Codes

  • Duo Whole Exome Sequencing: 81415, 81416

Trio Whole Exome Sequencing

When two biological parents or family members are available to participate in Whole Exome Sequencing with the patient.

Acceptable Sample Types

  • Whole Blood: 3-5 milliliters (1 milliliter minimum) EDTA
  • Saliva: Oragene Dx or ORAcollect Dx
  • Extracted DNA: 3-5 micrograms (2 micrograms minimum)
  • Fresh Tissue: 4 millimeter full thickness skin punch

Shipping Requirements

  • Room temperature / Ambient / Insulate during extreme weather / Ship same day if possible

CPT Codes

  • Trio Whole Exome Sequencing: 81415, 81416 x2

Rapid Infant Whole Exome Sequencing

Rapid Infant WES in the NICU setting is limited to testing the patient. Please contact our office at 406-444-7532 to discuss this testing further.

Acceptable Sample Types

  • Whole Blood: 3-5 milliliters (1 milliliter minimum) EDTA
  • Saliva: Oragene Dx or ORAcollect Dx
  • Extracted DNA: 3-5 micrograms (2 micrograms minimum)
  • Fresh Tissue: 4 millimeter full thickness skin punch

Shipping Requirements

  • Room temperature / Ambient / Insulate during extreme weather / Ship same day if possible

CPT Code

  • Rapid Infant Whole Exome Sequencing: 81415

Known Familial Variant Testing

Sanger Sequencing

Acceptable Sample Types

  • Whole Blood: 3-5 milliliters (1 milliliter minimum) EDTA
  • Saliva: Oragene Dx or ORAcollect Dx
  • Extracted DNA: 3-5 micrograms (2 micrograms minimum)
  • Direct Amniotic Fluid: 20-25 milliliters in sterile transport tubes
  • Cultured Amniotic Fluid: Two T25 flasks
  • Direct Chorionic Villi (CVS): 20-30 milligrams in sterile transport tubes containing transport media
  • Cultured Chorionic Villi (CVS): Two T25 flasks
  • Fresh Tissue: 4 millimeter full thickness skin punch
  • Products of Conception (POC, placenta, villi): 20-30 milligrams (no formalin)

Shipping Requirements

  • Room temperature / Ambient / Insulate during extreme weather / Ship same day if possible

CPT Code (may vary depending on the gene being analyzed)

  • General Sanger Sequencing: 81403

Copy Number Analysis

Acceptable Sample Types

  • Whole Blood: 3-5 milliliters (1 milliliter minimum) EDTA
  • Saliva: Oragene Dx or ORAcollect Dx
  • Extracted DNA: 3-5 micrograms (2 micrograms minimum)
  • Direct Amniotic Fluid: 20-25 milliliters in sterile transport tubes
  • Cultured Amniotic Fluid: Two T25 flasks
  • Direct Chorionic Villi (CVS): 20-30 milligrams in sterile transport tubes containing transport media
  • Cultured Chorionic Villi (CVS): Two T25 flasks
  • Fresh Tissue: 4 millimeter full thickness skin punch
  • Products of Conception (POC, placenta, villi): 20-30 milligrams (no formalin)

Shipping Requirements

  • Room temperature / Ambient / Insulate during extreme weather / Ship same day if possible

CPT Codes

  • Copy Number Analysis by PCR: 81403
  • Copy Number Analysis by Array: 81405