New York Approved

The following tests do not require a NY Exemption Form to be performed at Ambry. Please note, any test not on this list needs a New York Exemption Form. 

Cancer

    Multi-Gene Panels

      Any gene that is part of a NY approved panel is also approved for standalone sequencing, deletion/duplication analysis, and single site analysis.

      Test Name Gene(s)
      BRCAplus BRCA1, BRCA2, CDH1, PTEN, TP53
      BRCAplus-Expanded ATM, BRCA1, BRCA2, CDH1, CHEK2, PALB2, PTEN, TP53
      BreastNext ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, MRE11A, MUTYH, NBN, NF1, PALB2, PTEN, RAD50, RAD51C, RAD51D, TP53
      CancerNext APC, ATM, BARD1, BRCA1, BRCA2, BRIP1, BMPR1A, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, GREM1, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, POLD1, POLE, PTEN, RAD50, RAD51C, RAD51D, SMAD4, SMARCA4, STK11, TP53
      CancerNext-Expanded APC, ATM, BARD1, BRCA1, BRCA2, BRIP1, BMPR1A, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, FLCN, MAX, MITF, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, PTEN, RAD50, RAD51C, RAD51D, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, STK11, TMEM127, TP53, TSC1, TSC2, VHL
      ColoNext APC, BMPR1A, CDH1, CHEK2, EPCAM, GREM1, MLH1, MSH2, MSH6, MUTYH, PMS2, POLD1, POLE, PTEN, SMAD4, STK11,TP53
      CustomNext-Cancer* AIP, ALK, APC, ATM, BAP1, BARD1, BLM, BRCA1, BRCA2, BRIP1, BMPR1A, CDH1, CDK4, CDKN1B, CDKN2A,CHEK2, DICER1, EPCAM, FANCC, FH, FLCN, GALNT12, GREM1, HOXB13, MAX, MEN1, MET, MITF, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, NF2, PALB2, PHOX2B, POT1, PMS2, POLD1, POLE, PRKAR1A, PTCH1, PTEN, RAD50, RAD51C, RAD51D, RB1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SMARCE1, STK11, SUFU, TMEM127, TP53, TSC1, TSC2, VHL, XRCC2
      GYNplus BRCA1, BRCA2, EPCAM, MLH1, MSH2, MSH6, PMS2, PTEN, TP53
      OvaNext ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, PTEN, RAD50, RAD51C, RAD51D, SMARCA4, STK11, TP53
      PancNext APC, ATM, BRCA1, BRCA2, CDKN2A, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2, STK11, TP53
      PGLFirst SDHB, SDHC,SDHD, SDHAF2, MAX, TMEM127
      PGLNext FH, MAX, MEN1, NF1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL
      ProstateNext ATM, BRCA1, BRCA2, CHEK2, EPCAM, HOXB13, MLH1, MSH2, MSH6, NBN, PALB2, PMS2, RAD51D, TP53
      RenalNext BAP1, EPCAM, FH, FLCN, MET, MITF, MLH1, MSH2, MSH6, PMS2, PTEN, SDHA, SDHB, SDHC, SDHD, TP53, TSC1, TSC2, VHL
      *CustomNext-Cancer is NY approved unless any of the following genes are included: AIP, ALK, BLM, CDKN1B, DICER1, FANCC, GALNT12, HOXB13, NF2, PHOX2B, POT1, PRKAR1A, PTCH1, RB1, SMARCB1, SMARCE1, SUFU, XRCC2

    Single Syndrome Tests

      Test Name Gene(s)
      Adenomatous polyposis APC, MUTYH
      Ataxia-telangiectasia ATM
      Birt-Hogg-Dubé syndrome (BHDS) FLCN
      BRCA Ashkenazi Jewish 3-site Mutation panel BRCA1, BRCA2
      CHEK2-related cancer CHEK2
      Familial adenomatous polyposis (FAP) APC
      Gastric cancer, hereditary diffuse (HDGC) CDH1
      Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) FH
      Juvenile polyposis syndrome (JPS) BMPR1A, SMAD4
      Li-Fraumeni syndrome TP53
      Lynch syndrome MLH1, MSH2, MSH6, EPCAM, PMS2
      Malignant melanoma, hereditary CDKN2A, CDK4
      Mixed polyposis syndrome, hereditary GREM1
      Multiple endocrine neoplasia type 1 (MEN1) MEN1
      Multiple endocrine neoplasia type 2 (MEN2) and familial medullary thyroid cancer (FMTC) RET
      MUTYH-associated polyposis (MAP) MUTYH
      Neurofibromatosis type 1 (NF1) NF1
      Nevoid basal cell carcinoma syndrome (NBCCS)/Gorlin syndrome PTCH1
      PALB2-associated cancer PALB2
      Peutz-Jeghers syndrome (PJS) STK11
      Pleuropulmonary blastoma and DICER1- related disorders DICER1
      POLD1 and POLE-related cancer POLD1, POLE
      PTEN-Related disorders (Cowden syndrome, Proteus syndrome, macrocephaly and autism) PTEN
      Tuberous sclerosis complex (TSC) TSC1, TSC2
      von Hippel-Lindau disease (VHL) VHL

Cardiology

    Multi-Gene Panels

      Any gene that is part of a NY approved panel is also approved for single site analysis.

      Test Name Genes(s)
      ARVDNext DSC2, DSG2, DSP, JUP, PKP2, RYR2, TGFB3, TMEM43
      CardioNext (with and without TTN) ABCC9, ACTC1, ACTN2, AKAP9, ANK2, ANKRD1, BAG3, CACNA1C, CACNA2D1, CACNB2, CALM1, CASQ2, CAV3, CRYAB, CSRP3, DES, DMD, DSC2, DSG2, DSP, EMD, EYA4, FKTN, FXN, GATA4, GATAD1, GLA, GPD1L, HCN4, JAG1, JPH2, JUP, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, LAMA4, LAMP2, LDB3/ZASP, LMNA, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYOZ2, MYPN, NEXN, NKX2.5, PKP2, PLN, PTPN11, PRKAG2, RAF1, RBM20, RYR2, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SNTA1, TAZ, TBX1, TBX5, TBX20, TCAP, TGFB3, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TRPM4, TTR, TXNRD2, VCL,TTN
      CMNext (with and without TTN) ABCC9, ACTC1, ACTN2, ANKRD1, BAG3, CRYAB, CSRP3, DES, DMD, DSC2, DSG2, DSP, EMD, EYA4, FKTN, FXN, GATAD1, GLA, JPH2, JUP, LAMA4, LAMP2, LDB3/ZASP, LMNA, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYOZ2, MYPN, NEXN, NKX2.5, PKP2, PLN, PRKAG2, PTPN11, RAF1, RBM20, RYR2, SCN5A, TAZ, TBX20, TCAP, TGFB3, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTR, TXNRD2, VCL, TTN
      CPVTNext ANK2, CALM1, CASQ2, KCNJ2, RYR2, TRDN
      CustomNext-Cardio Choose up to 85 genes from CardioNext
      CustomNext-TAAD Choose up to 22 genes from TAADNext
      DCMNext ABCC9, ACTC1, ACTN2, ANKRD1, BAG3, CSRP3, DES, DMD, EYA4, FKTN, LAMA4, LAMP2, LDB3/ZASP, LMNA, MYBPC3, MYH6, MYH7, MYPN, NEXN, PLN, RAF1, RBM20, SCN5A, TCAP, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, TXNRD2, VCL
      HCMFirst MYBPC3, MYH7
      HCMNext ACTC1, ACTN2, ANKRD1, CSRP3, FXN, GLA, JPH2, LAMP2, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYOZ2,MYPN, NEXN, PLN, PTPN11, RAF1, TCAP, TNNC1, TNNI3, TNNT2, TPM1, VCL
      LVNCNext ACTC1, LDB3/ZASP, TNNT2, TPM1
      Rhythm First AKAP9, ANK2, CACNA1C, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, SCN4B, SCN5A, SNTA1
      RhythmNext AKAP9, ANK2, CACNA1C, CACNA2D1, CACNB2, CALM1, CASQ2, CAV3, DSC2, DSG2, DSP, GPD1L, HCN4, JUP, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ8, KCNQ1, LMNA,NKX2.5, PKP2, RYR2, SCN1B, SCN3B, SCN4B, SCN5A,SNTA1, TBX5, TGFB3, TMEM43, TRDN, TRPM4
      TAADNext ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA, MED12, MYH11, MYLK, NOTCH1, PLOD1, PRKG1, SKI, SLC2A10, SMAD3, TGFB2, TGFBR1, TGFBR2

    Single Syndrome Tests

      Test Name Gene(s)
      Ehlers-Danlos, vascular type (EDS IV) COL3A1
      Familial transthyretin amyloidosis TTR
      Marfan syndrome (MFS) FBN1

Clinical Genomics

    Test Name
    ExomeNext
    ExomeNext-Prenatal
    ExomeNex-Select
    ExomeNext-Rapid
    Maternal cell contamination for amniotic fluid culture or CVS (run concurrently with test)
    Maternal cell contamination for maternal sample
    Next Generation Sequencing Specific Site Analysis (custom) Exome
    SNP Array

Endocrinology

    Any gene that is part of a NY approved panel is also approved for standalone sequencing, deletion/duplication analysis, and single site analysis.

    Test Name Gene(s)
    Hereditary leiomyomatosis and renal cell carcinoma FH
    Maturity Onset Diabetes of the Young (MODY) HNF1B, HNF4A, PDX1, HNF1A, GCK
    Multiple endocrine neoplasia type I (MEN1) MEN1
    Multiple endocrine neoplasia type 2 (MEN2) and familial medullary thyroid cancer (FMTC) RET
    Neurofibromatosis type 1 (NF1) NF1
    PGLFirst MAX, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127
    PGLNext FH, MAX, MEN1, NF1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL
    von-Hippel Lindau disease VHL

Gastroenterology

    Any gene that is part of a NY approved panel is also approved for standalone sequencing, deletion/duplication analysis, and single site analysis.

    Test Name Gene(s)
    Alpha-1 antitrypsin deficiency SERPINA1
    Cystic fibrosis (all tests) CFTR
    Hirschsprung disease (RET-related) RET
    Juvenile polyposis syndrome (JPS) BMPR1A, SMAD4
    Pancreatitis Panel CFTR, PRSS1, SPINK1, CTRC
    Peutz-Jeghers syndrome STK11

Hematology

    Any gene that is part of a NY approved panel is also approved for standalone sequencing, deletion/duplication analysis, and single site analysis.

    Test Name Gene(s)
    DBANext RPS19, RPL5, RPS10, RPL11, RPL35A, RPS26, RPS24, RPS17, RPS7, RPL19, RPL26
    DCNext DKC1, TINF2, TERC, NHP2, NOP10, WRAP53, TERT
    HBB-related disorders HBB
    Shwachman- Diamond Syndrome SBDS

Inherited Metabolic Disorders

    Any gene that is part of a NY approved panel is also approved for standalone sequencing, deletion/duplication analysis, and single site analysis.

    Test Name Gene(s)
    NCLNext ATP13A2, CLN3, CLN5, CLN6, CLN8, CTSD, CTSF, DNAJC5, GRN, KCTD7, MFSD8, PPT1, TPP1
    Canavan disease ASPA
    Hunter syndrome / Mucopolysaccharidosis (MPS) type 2 IDS
    Lesch-Nyhan syndrome HPRT1
    Menkes and related syndromes ATP7A
    Ornithine transcarbamylase (OTC) deficiency OTC
    Pelizaeus-Merzbacher disease PLP1
    Tay-Sachs disease HEXA
    X-linked adrenoleukodystrophy ABCD1

Multiple Congenital Anomalies

    Any gene that is part of a NY approved panel is also approved for standalone sequencing, deletion/duplication analysis, and single site analysis.

    Test Name Gene(s)
    Coffin-Lowry syndrome RPS6KA3
    CdLSNext HDAC8, NIPBL, RAD21, SMC1A, SMC3
    Kleefstra syndrome EHMT1
    Lowe syndrome OCRL
    Noonan syndrome KRAS, PTPN11, RAF1, SOS1
    Oral-facial-digital syndrome OFD1
    Prader-Willi syndrome Chromosome 15q11.2-q13 methylation studies
    Rubinstein-Taybi syndrome CREBBP
    Simpson-Golabi-Behmel syndrome GPC3
    Smith-Lemli-Opitz syndrome DHCR7
    Smith-Magenis syndrome RAI1
    Sotos syndrome NSD1

Neurology

    Multi-Gene Panels

      Any gene that is part of a NY approved panel is also approved for standalone sequencing, deletion/duplication analysis, and single site analysis.

      Test Name Gene(s)
      AutismFirst CHD7, DHCR7, HDAC8, FMR1, MECP2, MED12, NIPBL, NSD1, PTEN, RAD21, RAI1, SMC1A, SMC3, TSC1, TSC2, UBE3A
      AutismNext ADNP, ANKRD11, ARID1B, CACNA1C, CDKL5, CHD2, CHD7, CHD8, CNTNAP2, CREBBP, DHCR7, DYRK1A, FMR1, FOXG1, FOXP1, GRIA3, GRIN2B, HDAC8, KATNAL2, MECP2, MED12, MEF2C, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, PCDH19, POGZ, PTCHD1, PTEN, RAB39B, RAD21, RAI1, SCN2A, SHANK3, SLC6A8, SLC9A6, SMC1A, SMC3, SYNGAP1, TBR1, TCF4, TSC1, TSC2, UBE3A, UPF3B, ZEB2
      CustomNext-Epilepsy Up to 100 genes from EpilepsyNext
      EpiFirst-Fever CHD2, GABRA1, GABRB3, GABRG2, HCN1, PCDH19, PRRT2, SCN1A, SCN1B, SCN2A, SCN8A, STX1B, STXBP1
      EpiFirst-Focal CRH, CHRNA2, CHRNA4, CHRNB2, DEPDC5, GRIN2A, KCNT1, LGI1, PRRT2, SCN1A, SCN1B
      EpiFirst-IS ARX, CDKL5, DNM1, EEF1A2, FOXG1, GRIN1, GRIN2A, KCNQ2, KCNT1, SCN2A, SCN8A, SIK1, SLC25A22, SPTAN1, STXBP1, TSC1, TSC2
      EpiFirst-Neonate ALDH7A1, KCNQ2, KCNQ3, KCNT1, SCN1A, SCN1B, SCN2A, SCN8A, SIK1, STXBP1
      EpilepsyNext ALDH7A1, ARHGEF9, ARX, ATP1A2, ATP13A2, CACNA1A, CASK, CDKL5,CHD2, CHRNA2, CHRNA4, CHRNB2, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CRH, CSTB, CTSD, CTSF, DCX, DEPDC5, DNAJC5, DNM1, DYRK1A, DYNC1H1, EEF1A2, EPM2A, FLNA, FOLR1, FOXG1, GABRA1, GABRB3, GABRG2, GAMT, GATM, GNAO1, GOSR2, GRIN1, GRIN2A, GRIN2B, GRN, HCN1, HNRNPU, IQSEC2, KCNA2, KCNC1, KCNJ10, KCNQ2, KCNQ3, KCNT1, KCTD7, KIAA2022, LGI1, MECP2, MEF2C, MFSD8, NHLRC1, NRXN1, PCDH19, PIGA, PLCB1, PNKP, PNPO, POLG, PPT1, PRICKLE1, PRRT2, PURA, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SIK1, SLC13A5, SLC25A22, SLC2A1, SLC35A2, SLC6A1, SLC9A6, SMC1A, SNAP25, SPTAN1, ST3GAL3, STX1B, STXBP1, SYN1, SYNGAP1, SZT2, TBC1D24, TBL1XR1, TCF4, TPP1, TSC1, TSC2, UBE3A, WDR45, ZEB2
      EpiRapid ALDH7A1, FOLR1, KCNQ2, KCNQ3, KCNT1, MECP2, PCDH19, PNPO, POLG, PRRT2, SCN1A, SCN8A, SLC2A1, STXBP1, TSC1, TSC2
      Familial hemiplegic migraine ATP1A2, CACNA1A, PRRT2, SCN1A
      HHTFirst ACVRL1, ENG, SMAD4
      HHTNext ACVRL1, ENG, SMAD4, GDF2, RASA1
      IDNext ABCD1, ACSL4, ADNP, ALG13, ANKRD11, AP1S2, AP4B1, ARHGEF9, ARID1B, ARX, ATP7A, ATRX, BRWD3, CA8, CACNA1A, CASK, CC2D1A, CDKL5, CHD2, CHD7, CHD8, CNTNAP2, CREBBP, CTCF, CUL4B, DCX, DDX3X, DHCR7, DLG3, DNM1, DYNC1H1, DYRK1A, EHMT1, FGD1, FLNA, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, FTSJ1, GAMT, GATM, GDI1,GNAO1, GPC3, GRIA3, GRIN1, GRIN2A, GRIN2B, HCN1, HDAC8, HNRNPU, HOXA1, HPRT1, HUWE1, IDS, IQSEC2, KAT6A, KCNJ10, KDM5C, KIAA2022, KIF1A, L1CAM, LAMP2, LINS, MAN1B1, MAOA, MBD5, MECP2, MED12, MED23, MEF2C, MID1, NDP, NDUFA1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NSUN2, OCRL, OFD1, OPHN1, OTC, PACS1, PAK3, PCDH19, PDHA1, PHF6, PHF8, PIGA, PIGN, PLP1, PNKP, POGZ, PORCN, PPT1, PQBP1, PTCHD1, PTEN, PTPN11, PURA, RAB39B, RAD21, RAI1, RPL10, RPS6KA3, SATB2, SCN2A, SCN8A, SLC16A2, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMARCA2, SMARCA4, SMARCB1, SMC1A, SMC3, SMS, ST3GAL3, STXBP1, SYN1, SYNGAP1, TBR1, TCF4, TIMM8A, TRAPPC9, TUSC3, UBE2A, UBE3A, UPF3B, VPS13B, WDR45, ZC4H2, ZEB2
      Neurodevelopment-Expanded ABCD1, ACSL4, ADNP, ALDH7A1, ALG13, ANKRD11, AP1S2, AP4B1, ARHGEF9, ARID1B, ARX, ATP13A2, ATP1A2, ATP7A, ATRX, BRWD3, CA8, CACNA1A, CACNA1C, CASK, CC2D1A, CDKL5, CHD2, CHD7, CHD8, CHRNA2, CHRNA4, CHRNB2, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CREBBP, CRH, CSTB, CTCF, CTSD, CTSF, CUL4B, DCX, DDX3X, DEPDC5, DHCR7, DLG3, DNAJC5, DNM1, DYNC1H1, DYRK1A, EEF1A2, EHMT1, EPM2A, FGD1, FLNA, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, FTSJ1, GABRA1, GABRB3, GABRG2, GAMT, GATM, GDI1, GNAO1, GOSR2, GPC3, GRIA3, GRIN1, GRIN2A, GRIN2B, GRN, HCN1, HDAC8, HNRNPU, HOXA1, HPRT1, HUWE1, IDS, IQSEC2, KAT6A, KATNAL2, KCNA2, KCNC1, KCNJ10, KCNQ2, KCNQ3, KCNT1, KCTD7, KDM5C, KIAA2022, KIF1A, L1CAM, LAMP2, LGI1, LINS, MAN1B1, MAOA, MBD5, MECP2, MED12, MED23, MEF2C, MFSD8, MID1, NDP, NDUFA1, NHLRC1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NSUN2, OCRL, OFD1, OPHN1, OTC, PACS1, PAK3, PCDH19, PDHA1, PHF6, PHF8, PIGA, PIGN, PLCB1, PLP1, PNKP, PNPO, POGZ, POLG, PORCN, PPT1, PQBP1, PRICKLE1, PRRT2, PTCHD1, PTEN, PTPN11, PURA, RAB39B, RAD21, RAI1, RPL10, RPS6KA3, SATB2, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SHANK3, SIK1, SLC13A5, SLC16A2, SLC25A22, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMARCA2, SMARCA4, SMARCB1, SMC1A, SMC3, SMS, SNAP25, SPTAN1, ST3GAL3, STX1B, STXBP1, SYN1, SYNGAP1, SZT2, TBC1D24, TBL1XR1, TBR1, TCF4, TIMM8A, TPP1, TRAPPC9, TSC1, TSC2, TUSC3, UBE2A, UBE3A, UPF3B, VPS13B, WDR45, ZC4H2, ZEB2
      PMEFirst CSTB, EPM2A, NHLRC1
      PMENext ATP13A2, CLN3, CLN5, CLN6, CLN8, CSTB, CTSD, CTSF, DNAJC5, EPM2A, FOLR1, GOSR2, GRN, KCNC1, KCTD7, MFSD8, NHLRC1, PPT1, PRICKLE1, SCARB2, TPP1
      Rett/AngelmanNext ARX, ATRX, CDKL5, CNTNAP2, DYRK1A, EHMT1, FOXG1, IQSEC2, MBD5, MECP2, MEF2C, NRXN1, PCDH19, PNKP, SATB2, SHANK3, SLC2A1, SLC9A6, STXBP1, TCF4, UBE3A, ZEB2

    Single Syndrome Tests

      Test Name Gene(s)
      Ataxia-telangiectasia ATM
      Autism spectrum disorders PTEN
      Familial transthyretin amyloidosis TTR
      Fragile X syndrome FMR1 repeat expansion testing and methylation analysis
      Leguis syndrome SPRED1
      Neurofibromatosis type 1 (NF1) NF1
      Nevoid basal cell carcinoma syndrome (NBCCS)/Gorlin syndrome PTCH1
      Tuberous sclerosis complex (TSC) TSC1, TSC2
      von-Hippel Lindau disease VHL

Pulmonology

    Any gene that is part of a NY approved panel is also approved for standalone sequencing, deletion/duplication analysis, and single site analysis.

    Test Name Genes
    Alpha-1 antitrypsin deficiency SERPINA1
    Congenital central hypoventilation syndrome (CCHS) PHOX2B
    Cystic fibrosis (all tests) CFTR
    PCDNext ARMC4, CCDC103, CCDC114, CCDC39, CCDC40, CFTR, DNAAF1, DNAAF2, DNAAF3, DNAAF5, DNAH5, DNAH11, DNAI1, DNAI2, LRRC6, NME8 (TXNDC3), OFD1, RPGR, RSPH4A, RSPH9, SPAG1
    Surfactant dysfunction (respiratory distress syndrome) ABCA3, SFTPB, SFTPC
    Telomere-related pulmonary fibrosis TERT, TERC

Rheumatology

    Test Name Gene(s)
    Familial Mediterranean fever (FMF) MEFV

Vascular

    Any gene that is part of a NY approved panel is also approved for standalone sequencing, deletion/duplication analysis, and single site analysis.

    Test Name Gene(s)
    Ehlers-Danlos, vascular type (EDS IV) COL3A1
    HHTFirst ACVRL1, ENG, SMAD4
    HHTNext ACVRL1, ENG, SMAD4, GDF2, RASA1
    TAADNext ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA, MED12, MYH11, MYLK, NOTCH1, PLOD1, PRKG1, SKI, SLC2A10, SMAD3, TGFB2, TGFBR1, TGFBR2