Tests by Disease

We have cataloged all of our tests and organized them below by disease name. The comprehensive listing of tests by disease is organized in alphabetical order below.

Disease Test Genes
Cornelia de Lange syndrome Cornelia de lange syndrome NIPBL, SMC1A, HDAC8, RAD21, SMC3
A1AT deficiency Alpha-1-Antitrypsin Deficiency SERPINA1
Adrenoleukodystrophy X-Linked Adrenoleukodystrophy ABCD1
Alagille Syndrome Alagille Syndrome Testing JAG1
Alpha-1 antitrypsin deficiency Alpha-1-Antitrypsin Deficiency SERPINA1
Aminoacylase 2 deficiency Canavan Disease Testing ASPA
Angelman syndrome Rett And Angelman Syndromes ARX, ATRX, CDKL5, CNTNAP2, DYRK1A, EHMT1, FOXG1, IQSEC2, MBD5, MECP2, MEF2C, NRXN1, PCDH19, PNKP, SATB2, SHANK3, SLC2A1, SLC9A6, STXBP1, TCF4, UBE3A, ZEB2
Angelman-like syndrome Rett And Angelman Syndromes ARX, ATRX, CDKL5, CNTNAP2, DYRK1A, EHMT1, FOXG1, IQSEC2, MBD5, MECP2, MEF2C, NRXN1, PCDH19, PNKP, SATB2, SHANK3, SLC2A1, SLC9A6, STXBP1, TCF4, UBE3A, ZEB2
Arrhythmogenic right ventricular dysplasia (ARVD) ARVDNext DSG2, DSP, DSC2, JUP, LMNA, PKP2, TGFB3, TMEM43, RYR2
Arrhythmogenic right ventricular dysplasia (ARVD) CardioNext ABCC9, BAG3, DES, DMD, EYA4, FKTN, LAMA4, LMNA, RBM20, SCN5A, TMPO, TTN, TXNRD2, ACTN2, ANKRD1, CSRP3, LAMP2, MYBPC3, MYH6, MYH7, MYPN, NEXN, PLN, TCAP, TNNC1, TNNI3, VCL, RAF1, ACTC1, TNNT2, TPM1, LDB3/ZASP, FXN, JPH2, MYL2, MYL3, MYOZ2, PTPN11, DSG2, DSP, DSC2, JUP, PKP2, TGFB3, TMEM43, RYR2, CRYAB, EMD, GATAD1, TTR, ANK2, CALM1, CASQ2, KCNJ2, TRDN, AKAP9, CACNA1C, CACNA2D1, CACNB2, CAV3, GPD1L, HCN4, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ8, KCNQ1, SCN1B, SCN4B, SCN3B, SNTA1, TRPM4, GATA4, JAG1, KCNJ5, NKX2.5, SCN2B, TAZ, TBX1, TBX5, TBX20, PRKAG2
Arrhythmogenic right ventricular dysplasia (ARVD) CMNext ABCC9, ACTC1, ACTN2, ANKRD1, BAG3, CRYAB, CSRP3, DES, DMD, DSC2, DSG2, DSP, EMD, EYA4, FKTN, FXN, GATAD1, 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, TTN, TTR, TXNRD2, VCL
Arrhythmogenic right ventricular dysplasia (ARVD) RhythmFirst and RhythmNext LMNA, SCN5A, DSG2, DSP, DSC2, JUP, PKP2, TGFB3, TMEM43, RYR2, ANK2, CALM1, CASQ2, KCNJ2, TRDN, AKAP9, CACNA1C, CACNA2D1, CACNB2, CAV3, GPD1L, HCN4, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ8, KCNQ1, SCN1B, SCN4B, SCN3B, SNTA1, TRPM4, NKX2.5, TBX5
Arterial tortuosity syndrome TAADNEXT ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA, MED12, MYH11, MYLK, NOTCH1, PLOD1, PRKG1, SKI, SLC2A10, SMAD3, TGFB2, TGFBR1, TGFBR2, SMAD4, TGFB3
Arteriohepatic Dysplasia Alagille Syndrome Testing JAG1
ASPA deficiency Canavan Disease Testing ASPA
Ataxia-telangiectasia ATAXIA-TELANGIECTASIA ATM
ATP7A-related distal motor neuropathy Menkes and related syndromes ATP7A
Attenuated FAP (AFAP) Adenomatous Polyposis APC, MUTYH
Attenuated FAP (AFAP) Familial Adenomatous Polyposis APC
Atypical Rett syndrome Rett And Angelman Syndromes ARX, ATRX, CDKL5, CNTNAP2, DYRK1A, EHMT1, FOXG1, IQSEC2, MBD5, MECP2, MEF2C, NRXN1, PCDH19, PNKP, SATB2, SHANK3, SLC2A1, SLC9A6, STXBP1, TCF4, UBE3A, ZEB2
Autism Autism Spectrum Disorders (AutismFirst/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
Autism 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, 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, PRSS12, 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
Autism Spectrum Disorder Autism Spectrum Disorders (AutismFirst/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
Autism Spectrum Disorder Microarrays: 180K Oligo Array and SNP Array
Autism spectrum disorder 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, 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, PRSS12, 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
Autism spectrum disorder with macrocephaly PTEN-Related Disorders PTEN
Autosomal Dominant Type II Diabetes Maturity-Onset Diabetes of the Young (MODY) Testing HNF1B, HNF4A, PDX1, HNF1A, GCK
Bannayan-Riley-Ruvalcaba syndrome PTEN-Related Disorders PTEN
Basal Cell Nevus Syndrome (BCNS) NEVOID BASAL CELL CARCINOMA SYNDROME (GORLIN SYNDROME) PTCH1
Batten Disease Neuronal Ceroid Lipofuscinosis (Batten Disease) ATP13A2, CLN5, CLN6, CLN8, CTSD, CTSF, DNAJC5, GRN, KCTD7, MFSD8, TPP1
Beta Thalassemia Beta Thalassemia (Sickle Cell Anemia, Sickle-Beta-Thalassemia) HBB
Birt-Hogg-Dubé syndrome (BHDS) Birt-Hogg-Dubé Syndrome FLCN
Brachmann-de Lange syndrome Cornelia de lange syndrome NIPBL, SMC1A, HDAC8, RAD21, SMC3
Breast Cancer BRCAplus CDH1, PTEN, TP53, BRCA1, BRCA2, PALB2
Breast cancer BRCAplus-EXPANDED ATM, BRCA1, BRCA2, CDH1, CHEK2, PALB2, PTEN, TP53
Breast cancer BreastNext ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, MRE11A, MUTYH, NBN, NF1, PTEN, RAD50, RAD51C, RAD51D, TP53, PALB2
Breast cancer CancerNext APC, ATM, BARD1, BRCA1, BRCA2, BRIP1, BMPR1A, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, GREM1, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, POLD1, POLE, PMS2, PTEN, RAD50, RAD51C, RAD51D, SMAD4, SMARCA4, STK11, TP53
Breast cancer CancerNext-Expanded APC, ATM, BARD1, BRCA1, BRCA2, BRIP1, BMPR1A, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, FLCN, MAX, MET, MITF, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, PMS2, PTEN, RAD50, RAD51C, RAD51D, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, STK11, TMEM127, TP53, TSC1, TSC2, VHL, PALB2, FH, MEN1, SMARCA4, BAP1, POLD1, POLE, GREM1
Breast cancer OvaNext ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, PMS2, PTEN, RAD50, RAD51C, RAD51D, STK11, TP53, PALB2, SMARCA4
Breast cancer PALB2 Gene Sequence and Deletion/Duplication PALB2
Broad Thumbs-Hallux syndrome RUBINSTEIN-TAYBI SYNDROME CREBBP
Brugada Syndrome (BrS) Brugada Syndrome (BrS)
Brugada syndrome (BrS) CardioNext ABCC9, BAG3, DES, DMD, EYA4, FKTN, LAMA4, LMNA, RBM20, SCN5A, TMPO, TTN, TXNRD2, ACTN2, ANKRD1, CSRP3, LAMP2, MYBPC3, MYH6, MYH7, MYPN, NEXN, PLN, TCAP, TNNC1, TNNI3, VCL, RAF1, ACTC1, TNNT2, TPM1, LDB3/ZASP, FXN, JPH2, MYL2, MYL3, MYOZ2, PTPN11, DSG2, DSP, DSC2, JUP, PKP2, TGFB3, TMEM43, RYR2, CRYAB, EMD, GATAD1, TTR, ANK2, CALM1, CASQ2, KCNJ2, TRDN, AKAP9, CACNA1C, CACNA2D1, CACNB2, CAV3, GPD1L, HCN4, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ8, KCNQ1, SCN1B, SCN4B, SCN3B, SNTA1, TRPM4, GATA4, JAG1, KCNJ5, NKX2.5, SCN2B, TAZ, TBX1, TBX5, TBX20, PRKAG2
Brugada syndrome (BrS) RhythmFirst and RhythmNext LMNA, SCN5A, DSG2, DSP, DSC2, JUP, PKP2, TGFB3, TMEM43, RYR2, ANK2, CALM1, CASQ2, KCNJ2, TRDN, AKAP9, CACNA1C, CACNA2D1, CACNB2, CAV3, GPD1L, HCN4, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ8, KCNQ1, SCN1B, SCN4B, SCN3B, SNTA1, TRPM4, NKX2.5, TBX5
Canavan Disease Canavan Disease Testing ASPA
Catecholaminergic polymorphic ventricular tachycardia (CPVT) CardioNext ABCC9, BAG3, DES, DMD, EYA4, FKTN, LAMA4, LMNA, RBM20, SCN5A, TMPO, TTN, TXNRD2, ACTN2, ANKRD1, CSRP3, LAMP2, MYBPC3, MYH6, MYH7, MYPN, NEXN, PLN, TCAP, TNNC1, TNNI3, VCL, RAF1, ACTC1, TNNT2, TPM1, LDB3/ZASP, FXN, JPH2, MYL2, MYL3, MYOZ2, PTPN11, DSG2, DSP, DSC2, JUP, PKP2, TGFB3, TMEM43, RYR2, CRYAB, EMD, GATAD1, TTR, ANK2, CALM1, CASQ2, KCNJ2, TRDN, AKAP9, CACNA1C, CACNA2D1, CACNB2, CAV3, GPD1L, HCN4, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ8, KCNQ1, SCN1B, SCN4B, SCN3B, SNTA1, TRPM4, GATA4, JAG1, KCNJ5, NKX2.5, SCN2B, TAZ, TBX1, TBX5, TBX20, PRKAG2
Catecholaminergic polymorphic ventricular tachycardia (CPVT) CPVTNext RYR2, ANK2, CALM1, CASQ2, KCNJ2, TRDN
Catecholaminergic polymorphic ventricular tachycardia (CPVT) RhythmFirst and RhythmNext LMNA, SCN5A, DSG2, DSP, DSC2, JUP, PKP2, TGFB3, TMEM43, RYR2, ANK2, CALM1, CASQ2, KCNJ2, TRDN, AKAP9, CACNA1C, CACNA2D1, CACNB2, CAV3, GPD1L, HCN4, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ8, KCNQ1, SCN1B, SCN4B, SCN3B, SNTA1, TRPM4, NKX2.5, TBX5
CHARGE Syndrome CHARGE Syndrome testing CHD7
CHEK2-related cancer CHEK2-Related Cancer CHEK2
Christianson syndrome Rett And Angelman Syndromes ARX, ATRX, CDKL5, CNTNAP2, DYRK1A, EHMT1, FOXG1, IQSEC2, MBD5, MECP2, MEF2C, NRXN1, PCDH19, PNKP, SATB2, SHANK3, SLC2A1, SLC9A6, STXBP1, TCF4, UBE3A, ZEB2
Chromosome 17p11.2 deletion syndrome Smith-Magenis syndrome RAI1
Coffin-Lowry syndrome COFFIN-LOWRY SYNDROME RPS6KA3
Colorectal cancer Adenomatous Polyposis APC, MUTYH
Colorectal cancer CancerNext APC, ATM, BARD1, BRCA1, BRCA2, BRIP1, BMPR1A, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, GREM1, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, POLD1, POLE, PMS2, PTEN, RAD50, RAD51C, RAD51D, SMAD4, SMARCA4, STK11, TP53
Colorectal cancer CancerNext-Expanded APC, ATM, BARD1, BRCA1, BRCA2, BRIP1, BMPR1A, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, FLCN, MAX, MET, MITF, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, PMS2, PTEN, RAD50, RAD51C, RAD51D, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, STK11, TMEM127, TP53, TSC1, TSC2, VHL, PALB2, FH, MEN1, SMARCA4, BAP1, POLD1, POLE, GREM1
Colorectal cancer ColoNext APC, BMPR1A, CDH1, CHEK2, EPCAM, GREM1, MLH1, MSH2, MSH6, MUTYH, PMS2, POLD1, POLE, PTEN, SMAD4, STK11, TP53
Colorectal cancer GREM1 Duplication Analysis GREM1
Colorectal cancer Lynch Syndrome EPCAM, MLH1, MSH2, MSH6, PMS2
Colorectal cancer MUTYH-associated Polypsis (MAP) MUTYH
Colorectal cancer Peutz-Jeghers Syndrome STK11
Colorectal cancer POLD1 and POLE Analysis POLD1, POLE
Congenital Central Hypoventilation Syndrome Congenital Central Hypoventilation Syndrome PHOX2B
Congenital contractural arachnodactyly (CCA or Beals syndrome) TAADNEXT ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA, MED12, MYH11, MYLK, NOTCH1, PLOD1, PRKG1, SKI, SLC2A10, SMAD3, TGFB2, TGFBR1, TGFBR2, SMAD4, TGFB3
Congenital heart defects CardioNext ABCC9, BAG3, DES, DMD, EYA4, FKTN, LAMA4, LMNA, RBM20, SCN5A, TMPO, TTN, TXNRD2, ACTN2, ANKRD1, CSRP3, LAMP2, MYBPC3, MYH6, MYH7, MYPN, NEXN, PLN, TCAP, TNNC1, TNNI3, VCL, RAF1, ACTC1, TNNT2, TPM1, LDB3/ZASP, FXN, JPH2, MYL2, MYL3, MYOZ2, PTPN11, DSG2, DSP, DSC2, JUP, PKP2, TGFB3, TMEM43, RYR2, CRYAB, EMD, GATAD1, TTR, ANK2, CALM1, CASQ2, KCNJ2, TRDN, AKAP9, CACNA1C, CACNA2D1, CACNB2, CAV3, GPD1L, HCN4, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ8, KCNQ1, SCN1B, SCN4B, SCN3B, SNTA1, TRPM4, GATA4, JAG1, KCNJ5, NKX2.5, SCN2B, TAZ, TBX1, TBX5, TBX20, PRKAG2
Congenital lipomatosis of the pancreas Shwachman-Diamond Syndrome SBDS
Cowden syndrome PTEN-Related Disorders PTEN
Cutaneous malignant melanoma syndrome CDKN2A and CDK4 Testing CDKN2A, CDK4
Cystic fibrosis Cystic Fibrosis Testing CFTR
de Lange syndrome Cornelia de lange syndrome NIPBL, SMC1A, HDAC8, RAD21, SMC3
Developmental delay Intellectual Disability (IDNext) ABCD1, ACSL4, ADNP, ALG13, ANKRD11, AP4B1, AP1S2, 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, FOXP2, FOXP1, 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
Developmental Delay Microarrays: 180K Oligo Array and SNP Array
Developmental delay 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, 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, PRSS12, 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
Diamond-Blackfan anemia Diamond-Blackfan Anemia RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS7, RPL19, RPL26
DICER1 Syndrome Pleuropulmonary Blastoma (PPB) Family Tumor and Dysplasia Syndrome, DICER1 Syndrome DICER1
Dilated cardiomyopathy DCMNext ABCC9, ACTC1, ACTN2, ANKRD1, BAG3, CSRP3, DES, DMD, EYA4, FKTN, LAMA4, LAMP2, LDB3/ZASP, LMNA, MYBPC3, MYH6, MYH7, MYPN, NEXN, NKX2.5, PLN, RAF1, RBM20, SCN5A, TAZ, TBX20, TCAP, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, TXNRD2, VCL
Dilated cardiomyopathy (DCM) CardioNext ABCC9, BAG3, DES, DMD, EYA4, FKTN, LAMA4, LMNA, RBM20, SCN5A, TMPO, TTN, TXNRD2, ACTN2, ANKRD1, CSRP3, LAMP2, MYBPC3, MYH6, MYH7, MYPN, NEXN, PLN, TCAP, TNNC1, TNNI3, VCL, RAF1, ACTC1, TNNT2, TPM1, LDB3/ZASP, FXN, JPH2, MYL2, MYL3, MYOZ2, PTPN11, DSG2, DSP, DSC2, JUP, PKP2, TGFB3, TMEM43, RYR2, CRYAB, EMD, GATAD1, TTR, ANK2, CALM1, CASQ2, KCNJ2, TRDN, AKAP9, CACNA1C, CACNA2D1, CACNB2, CAV3, GPD1L, HCN4, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ8, KCNQ1, SCN1B, SCN4B, SCN3B, SNTA1, TRPM4, GATA4, JAG1, KCNJ5, NKX2.5, SCN2B, TAZ, TBX1, TBX5, TBX20, PRKAG2
Dilated cardiomyopathy (DCM) CMNext ABCC9, ACTC1, ACTN2, ANKRD1, BAG3, CRYAB, CSRP3, DES, DMD, DSC2, DSG2, DSP, EMD, EYA4, FKTN, FXN, GATAD1, 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, TTN, TTR, TXNRD2, VCL
Dyskeratosis congenita Dyskeratosis Congenita DKC1, NHP2, NOP10, TERC, TERT, TINF2, WRAP53
Ehlers-Danlos syndrome, classic type (EDS I and II) TAADNEXT ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA, MED12, MYH11, MYLK, NOTCH1, PLOD1, PRKG1, SKI, SLC2A10, SMAD3, TGFB2, TGFBR1, TGFBR2, SMAD4, TGFB3
Ehlers-Danlos syndrome, kyphoscoliosis form (EDS VI) TAADNEXT ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA, MED12, MYH11, MYLK, NOTCH1, PLOD1, PRKG1, SKI, SLC2A10, SMAD3, TGFB2, TGFBR1, TGFBR2, SMAD4, TGFB3
Ehlers-Danlos syndrome, vascular type (EDS IV) TAADNEXT ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA, MED12, MYH11, MYLK, NOTCH1, PLOD1, PRKG1, SKI, SLC2A10, SMAD3, TGFB2, TGFBR1, TGFBR2, SMAD4, TGFB3
Epilepsy Comprehensive Epilepsy Testing (EpilepsyNext) ALDH7A1, ATP1A2, ATP13A2, CACNA1A, CHD2, CHRNA2, CHRNA4, CHRNB2, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CSTB, CTSD, DEPDC5, DNAJC5, DNM1, DYNC1H1, EPM2A, FOLR1, GABRA1, GABRB3, GABRG2, GAMT, GATM, GNAO1, GOSR2, GRIN1, GRIN2A, GRIN2B, HCN1, HNRNPU, KCNC1, KCNJ10, KCNQ2, KCNQ3, KCNT1, KCTD7, LGI1, MFSD8, NHLRC1, NRXN1, PCDH19, PIGA, PNKP, PNPO, POLG, PPT1, PRICKLE1, PRRT2, SCARB2, SCN1A, SCN2A, SCN8A, SLC13A5, SLC25A22, SLC2A1, SLC35A2, SNAP25, SPTAN1, ST3GAL3, STXBP1, SYNGAP1, SZT2, TBC1D24, TCF4, TPP1, ZEB2, PLCB1, CRH, STX1B, CTSF, IQSEC2, GRN, EEF1A2, KCNA2, SIK1, SLC6A1, TBL1XR1, DYRK1A, PURA, WDR45, CASK, CDKL5, CTSF, DCX, DYRK1A, EEF1A2, FLNA, FOXG1, GRN, IQSEC2, KCNA2, KIAA2022, MECP2, MEF2C, PLCB1, ARX, ARHGEF9
Epilepsy 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, 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, PRSS12, 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
Exome ExomeNext
Familial adenomatous polyposis (FAP) Adenomatous Polyposis APC, MUTYH
Familial Adenomatous Polyposis (FAP) Familial Adenomatous Polyposis APC
Familial atypical mole-malignant melanoma syndrome (FAMMM) CDKN2A and CDK4 Testing CDKN2A, CDK4
Familial Hypercholesterolemia FHNEXT APOB, LDLR, PCSK9
Familial Mediterranean Fever Familial Mediterranean Fever MEFV
Familial Medullary Thyroid Carcinoma (FMTC) Multiple Endocrine Neoplasia Type 2 (MEN2) RET
Familial pancreatitis Pancreatitis Testing PRSS1, SPINK1, CFTR, CTRC
Familial pulmonary fibrosis Telomere-Related Pulmonary Fibrosis TERC, TERT
Familial thoracic aortic aneurysm and dissection (TAAD) TAADNEXT ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA, MED12, MYH11, MYLK, NOTCH1, PLOD1, PRKG1, SKI, SLC2A10, SMAD3, TGFB2, TGFBR1, TGFBR2, SMAD4, TGFB3
Fanconi anemia PALB2 Gene Sequence and Deletion/Duplication PALB2
Febrile seizures Febrile Seizures (EpiFirst-Fever) CHD2, GABRA1, GABRB3, GABRG2, HCN1, PCDH19, PRRT2, SCN1A, SCN1B, SCN2A, SCN8A, STX1B, STXBP1
Focal epilepsy Non-Lesional Focal Epilepsy (EpiFirst-Focal) CRH, CHRNA2, CHRNA4, CHRNB2, DEPDC5, GRIN2A, KCNT1, LGI1, PRRT2, SCN1A, SCN1B
Fragile X Syndrome Fragile X-Associated Disorders FMR1
Fragile X-associated Primary Ovarian Insufficiency Fragile X-Associated Disorders FMR1
Fragile X-associated Tremor/Ataxia Syndrome Fragile X-Associated Disorders FMR1
Gardner Syndrome Familial Adenomatous Polyposis APC
Gastric cancer Hereditary Diffuse Gastric Cancer CDH1
Gaucher disease Gaucher Disease GBA
Glucocerebrosidase deficiency Gaucher Disease GBA
Glucosylceramidase deficiency Gaucher Disease GBA
Gorlin syndrome NEVOID BASAL CELL CARCINOMA SYNDROME (GORLIN SYNDROME) PTCH1
HBOC BRCA1 AND BRCA2 BRCA1, BRCA2
Hereditary Angioedema HAE AMPLIFIED (SERPING1) SERPING1
Hereditary breast and ovarian cancer BRCA1 AND BRCA2 BRCA1, BRCA2
Hereditary breast and ovarian cancer (HBOC) BRCAplus-EXPANDED ATM, BRCA1, BRCA2, CDH1, CHEK2, PALB2, PTEN, TP53
Hereditary breast and ovarian cancer (HBOC) BreastNext ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, MRE11A, MUTYH, NBN, NF1, PTEN, RAD50, RAD51C, RAD51D, TP53, PALB2
Hereditary breast and ovarian cancer (HBOC) CancerNext APC, ATM, BARD1, BRCA1, BRCA2, BRIP1, BMPR1A, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, GREM1, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, POLD1, POLE, PMS2, PTEN, RAD50, RAD51C, RAD51D, SMAD4, SMARCA4, STK11, TP53
Hereditary breast and ovarian cancer (HBOC) GYNplus BRCA1, BRCA2, EPCAM, MLH1, MSH2, MSH6, PMS2, PTEN, TP53
Hereditary breast and ovarian cancer (HBOC) OvaNext ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, PMS2, PTEN, RAD50, RAD51C, RAD51D, STK11, TP53, PALB2, SMARCA4
Hereditary Breast Ovarian Cancer (HBOC) BRCAplus CDH1, PTEN, TP53, BRCA1, BRCA2, PALB2
Hereditary Cancer BRCAplus CDH1, PTEN, TP53, BRCA1, BRCA2, PALB2
Hereditary cancer BRCAplus-EXPANDED ATM, BRCA1, BRCA2, CDH1, CHEK2, PALB2, PTEN, TP53
Hereditary cancer BreastNext ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, MRE11A, MUTYH, NBN, NF1, PTEN, RAD50, RAD51C, RAD51D, TP53, PALB2
Hereditary cancer CancerNext APC, ATM, BARD1, BRCA1, BRCA2, BRIP1, BMPR1A, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, GREM1, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, POLD1, POLE, PMS2, PTEN, RAD50, RAD51C, RAD51D, SMAD4, SMARCA4, STK11, TP53
Hereditary cancer CancerNext-Expanded APC, ATM, BARD1, BRCA1, BRCA2, BRIP1, BMPR1A, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, FLCN, MAX, MET, MITF, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, PMS2, PTEN, RAD50, RAD51C, RAD51D, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, STK11, TMEM127, TP53, TSC1, TSC2, VHL, PALB2, FH, MEN1, SMARCA4, BAP1, POLD1, POLE, GREM1
Hereditary cancer ColoNext APC, BMPR1A, CDH1, CHEK2, EPCAM, GREM1, MLH1, MSH2, MSH6, MUTYH, PMS2, POLD1, POLE, PTEN, SMAD4, STK11, TP53
Hereditary cancer GYNplus BRCA1, BRCA2, EPCAM, MLH1, MSH2, MSH6, PMS2, PTEN, TP53
Hereditary cancer OvaNext ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, PMS2, PTEN, RAD50, RAD51C, RAD51D, STK11, TP53, PALB2, SMARCA4
Hereditary cancer PancNext APC, ATM, BRCA1, BRCA2, CDKN2A, EPCAM, MLH1, MSH2, MSH6, PMS2, STK11, TP53, PALB2
Hereditary cancer PGLNext FH, MAX, MEN1, NF1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL
Hereditary cancer RenalNext MLH1, MSH2, MSH6, PMS2, PTEN, TP53, VHL, EPCAM, FLCN, TSC2, TSC1, SDHB, MET, MITF, SDHC, SDHD, SDHA, FH, BAP1
Hereditary diffuse gastric cancer Hereditary Diffuse Gastric Cancer CDH1
Hereditary Hemorrhagic Telangiectasia HHT Sequencing, Del/Dup & SMAD4-Related HHT
Hereditary hemorrhagic telangiectasia (HHT) Hereditary Hemorrhagic Telangiectasia (HHT) Testing ACVRL1, ENG, SMAD4, GDF2, RASA1
Hereditary hemorrhagic telangiectasia (HHT) Juvenile Polyposis Syndrome BMPR1A, SMAD4
Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) Hereditary Leiomyomatosis and Renal Cell Cancer FH
Hereditary pancreatitis Pancreatitis Testing PRSS1, SPINK1, CFTR, CTRC
Hereditary paraganglioma-pheochromocytoma syndrome PGLNext FH, MAX, MEN1, NF1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL
HGPRT Deficiency Lesch-Nyhan syndrome HPRT1
Hirschsprung Disease, RET-Related RET-Related Hirschsprung Disease RET
HNPCC (hereditary non-polyposis colorectal cancer) Lynch Syndrome EPCAM, MLH1, MSH2, MSH6, PMS2
Homocystinuria caused by cystathionine beta-synthase deficiency TAADNEXT ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA, MED12, MYH11, MYLK, NOTCH1, PLOD1, PRKG1, SKI, SLC2A10, SMAD3, TGFB2, TGFBR1, TGFBR2, SMAD4, TGFB3
Hoyeraal Hreidarsson syndrome Dyskeratosis Congenita DKC1, NHP2, NOP10, TERC, TERT, TINF2, WRAP53
HPRT Deficiency Lesch-Nyhan syndrome HPRT1
Hunter Syndrome Hunter Syndrome IDS
Hypertrophic cardiomyopathy (HCM) CardioNext ABCC9, BAG3, DES, DMD, EYA4, FKTN, LAMA4, LMNA, RBM20, SCN5A, TMPO, TTN, TXNRD2, ACTN2, ANKRD1, CSRP3, LAMP2, MYBPC3, MYH6, MYH7, MYPN, NEXN, PLN, TCAP, TNNC1, TNNI3, VCL, RAF1, ACTC1, TNNT2, TPM1, LDB3/ZASP, FXN, JPH2, MYL2, MYL3, MYOZ2, PTPN11, DSG2, DSP, DSC2, JUP, PKP2, TGFB3, TMEM43, RYR2, CRYAB, EMD, GATAD1, TTR, ANK2, CALM1, CASQ2, KCNJ2, TRDN, AKAP9, CACNA1C, CACNA2D1, CACNB2, CAV3, GPD1L, HCN4, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ8, KCNQ1, SCN1B, SCN4B, SCN3B, SNTA1, TRPM4, GATA4, JAG1, KCNJ5, NKX2.5, SCN2B, TAZ, TBX1, TBX5, TBX20, PRKAG2
Hypertrophic cardiomyopathy (HCM) CMNext ABCC9, ACTC1, ACTN2, ANKRD1, BAG3, CRYAB, CSRP3, DES, DMD, DSC2, DSG2, DSP, EMD, EYA4, FKTN, FXN, GATAD1, 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, TTN, TTR, TXNRD2, VCL
Hypertrophic cardiomyopathy (HCM) HCMFirst and HCMNext ACTC1, ACTN2, ANKRD1, CSRP3, FXN, JPH2, LAMP2, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYOZ2, MYPN, NEXN, PLN, PRKAG2, PTPN11, RAF1, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTR, VCL
Hypoxanthine-guanine phosphoribosyltransferase deficiency Lesch-Nyhan syndrome HPRT1
Idiopathic pulmonary fibrosis Telomere-Related Pulmonary Fibrosis TERC, TERT
Idiopathic sporadic pancreatitis Pancreatitis Testing PRSS1, SPINK1, CFTR, CTRC
Immotile cilia syndrome (ICS) Primary Ciliary Dyskinesia Testing CFTR, DNAAF1, DNAAF2, DNAH5, DNAH11, DNAI1, DNAI2, OFD1, RPGR, RSPH4A, RSPH9, NME8
Infantile Spasms Infantile Spasms (EpiFirst-IS) ARX, CDKL5, DNM1, EEF1A2, FOXG1, GRIN1, GRIN2A, KCNQ2, KCNT1, SCN2A, SCN8A, SIK1, SLC25A22, SPTAN1, STXBP1, TSC1, TSC2
Inherited arrhythmias/channelopathies RhythmFirst and RhythmNext LMNA, SCN5A, DSG2, DSP, DSC2, JUP, PKP2, TGFB3, TMEM43, RYR2, ANK2, CALM1, CASQ2, KCNJ2, TRDN, AKAP9, CACNA1C, CACNA2D1, CACNB2, CAV3, GPD1L, HCN4, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ8, KCNQ1, SCN1B, SCN4B, SCN3B, SNTA1, TRPM4, NKX2.5, TBX5
Intellectual disability Intellectual Disability (IDNext) ABCD1, ACSL4, ADNP, ALG13, ANKRD11, AP4B1, AP1S2, 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, FOXP2, FOXP1, 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
Intellectual Disability Microarrays: 180K Oligo Array and SNP Array
Intellectual disability 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, 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, PRSS12, 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
Interstitial lung disease, pediatric and familial Surfactant Dysfunction Testing ABCA3, SFTPB, SFTPC
Juvenile Polyposis (SMAD4-Related) HHT Sequencing, Del/Dup & SMAD4-Related HHT
Juvenile polyposis syndrome (JPS) Juvenile Polyposis Syndrome BMPR1A, SMAD4
Juvenile polyposis/Hereditary hemorrhagic telangiectasia syndrome (JPHT) TAADNEXT ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA, MED12, MYH11, MYLK, NOTCH1, PLOD1, PRKG1, SKI, SLC2A10, SMAD3, TGFB2, TGFBR1, TGFBR2, SMAD4, TGFB3
Kartagener syndrome Primary Ciliary Dyskinesia Testing CFTR, DNAAF1, DNAAF2, DNAH5, DNAH11, DNAI1, DNAI2, OFD1, RPGR, RSPH4A, RSPH9, NME8
Kidney cancer Birt-Hogg-Dubé Syndrome FLCN
Kidney cancer CancerNext-Expanded APC, ATM, BARD1, BRCA1, BRCA2, BRIP1, BMPR1A, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, FLCN, MAX, MET, MITF, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, PMS2, PTEN, RAD50, RAD51C, RAD51D, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, STK11, TMEM127, TP53, TSC1, TSC2, VHL, PALB2, FH, MEN1, SMARCA4, BAP1, POLD1, POLE, GREM1
Kidney cancer Hereditary Leiomyomatosis and Renal Cell Cancer FH
Kidney cancer RenalNext MLH1, MSH2, MSH6, PMS2, PTEN, TP53, VHL, EPCAM, FLCN, TSC2, TSC1, SDHB, MET, MITF, SDHC, SDHD, SDHA, FH, BAP1
Left ventricular non-compaction (LVNC) CardioNext ABCC9, BAG3, DES, DMD, EYA4, FKTN, LAMA4, LMNA, RBM20, SCN5A, TMPO, TTN, TXNRD2, ACTN2, ANKRD1, CSRP3, LAMP2, MYBPC3, MYH6, MYH7, MYPN, NEXN, PLN, TCAP, TNNC1, TNNI3, VCL, RAF1, ACTC1, TNNT2, TPM1, LDB3/ZASP, FXN, JPH2, MYL2, MYL3, MYOZ2, PTPN11, DSG2, DSP, DSC2, JUP, PKP2, TGFB3, TMEM43, RYR2, CRYAB, EMD, GATAD1, TTR, ANK2, CALM1, CASQ2, KCNJ2, TRDN, AKAP9, CACNA1C, CACNA2D1, CACNB2, CAV3, GPD1L, HCN4, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ8, KCNQ1, SCN1B, SCN4B, SCN3B, SNTA1, TRPM4, GATA4, JAG1, KCNJ5, NKX2.5, SCN2B, TAZ, TBX1, TBX5, TBX20, PRKAG2
Left ventricular non-compaction (LVNC) CMNext ABCC9, ACTC1, ACTN2, ANKRD1, BAG3, CRYAB, CSRP3, DES, DMD, DSC2, DSG2, DSP, EMD, EYA4, FKTN, FXN, GATAD1, 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, TTN, TTR, TXNRD2, VCL
Left ventricular non-compaction (LVNC) LVNCNext ACTC1, LMNA, MYBPC3, MYH7, TAZ, TNNT2, TPM1, LDB3/ZASP
Legius syndrome Legius syndrome SPRED1
Leiomyoma, Multiple Cutaneous (MCL) Hereditary Leiomyomatosis and Renal Cell Cancer FH
Leiomyomatosis and Renal Cell Cancer (LRCC) Hereditary Leiomyomatosis and Renal Cell Cancer FH
LEOPARD syndrome Noonan Syndrome with Multiple Lentigines PTPN11, RAF1
Lesch-Nyhan disease Lesch-Nyhan syndrome HPRT1
Lesch-Nyhan syndrome Lesch-Nyhan syndrome HPRT1
Li-Fraumeni syndrome LI-FRAUMENI SYNDROME TP53
Loeys-Dietz syndrome, types 1-5 TAADNEXT ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA, MED12, MYH11, MYLK, NOTCH1, PLOD1, PRKG1, SKI, SLC2A10, SMAD3, TGFB2, TGFBR1, TGFBR2, SMAD4, TGFB3
Long QT syndrome (LQTS) CardioNext ABCC9, BAG3, DES, DMD, EYA4, FKTN, LAMA4, LMNA, RBM20, SCN5A, TMPO, TTN, TXNRD2, ACTN2, ANKRD1, CSRP3, LAMP2, MYBPC3, MYH6, MYH7, MYPN, NEXN, PLN, TCAP, TNNC1, TNNI3, VCL, RAF1, ACTC1, TNNT2, TPM1, LDB3/ZASP, FXN, JPH2, MYL2, MYL3, MYOZ2, PTPN11, DSG2, DSP, DSC2, JUP, PKP2, TGFB3, TMEM43, RYR2, CRYAB, EMD, GATAD1, TTR, ANK2, CALM1, CASQ2, KCNJ2, TRDN, AKAP9, CACNA1C, CACNA2D1, CACNB2, CAV3, GPD1L, HCN4, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ8, KCNQ1, SCN1B, SCN4B, SCN3B, SNTA1, TRPM4, GATA4, JAG1, KCNJ5, NKX2.5, SCN2B, TAZ, TBX1, TBX5, TBX20, PRKAG2
Long QT Syndrome (LQTS) Long QT Syndrome (LQTS)
Long QT syndrome (LQTS) RhythmFirst and RhythmNext LMNA, SCN5A, DSG2, DSP, DSC2, JUP, PKP2, TGFB3, TMEM43, RYR2, ANK2, CALM1, CASQ2, KCNJ2, TRDN, AKAP9, CACNA1C, CACNA2D1, CACNB2, CAV3, GPD1L, HCN4, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ8, KCNQ1, SCN1B, SCN4B, SCN3B, SNTA1, TRPM4, NKX2.5, TBX5
Louis-Barr syndrome ATAXIA-TELANGIECTASIA ATM
Lujan-Fryns syndrome TAADNEXT ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA, MED12, MYH11, MYLK, NOTCH1, PLOD1, PRKG1, SKI, SLC2A10, SMAD3, TGFB2, TGFBR1, TGFBR2, SMAD4, TGFB3
Lynch syndrome CancerNext APC, ATM, BARD1, BRCA1, BRCA2, BRIP1, BMPR1A, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, GREM1, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, POLD1, POLE, PMS2, PTEN, RAD50, RAD51C, RAD51D, SMAD4, SMARCA4, STK11, TP53
Lynch syndrome ColoNext APC, BMPR1A, CDH1, CHEK2, EPCAM, GREM1, MLH1, MSH2, MSH6, MUTYH, PMS2, POLD1, POLE, PTEN, SMAD4, STK11, TP53
Lynch syndrome GYNplus BRCA1, BRCA2, EPCAM, MLH1, MSH2, MSH6, PMS2, PTEN, TP53
Lynch syndrome Lynch Syndrome EPCAM, MLH1, MSH2, MSH6, PMS2
Lynch syndrome OvaNext ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, PMS2, PTEN, RAD50, RAD51C, RAD51D, STK11, TP53, PALB2, SMARCA4
Marfan syndrome TAADNEXT ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA, MED12, MYH11, MYLK, NOTCH1, PLOD1, PRKG1, SKI, SLC2A10, SMAD3, TGFB2, TGFBR1, TGFBR2, SMAD4, TGFB3
Maturity-Onset Diabetes of the Young (MODY) Maturity-Onset Diabetes of the Young (MODY) Testing HNF1B, HNF4A, PDX1, HNF1A, GCK
Melanoma CancerNext APC, ATM, BARD1, BRCA1, BRCA2, BRIP1, BMPR1A, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, GREM1, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, POLD1, POLE, PMS2, PTEN, RAD50, RAD51C, RAD51D, SMAD4, SMARCA4, STK11, TP53
Melanoma CancerNext-Expanded APC, ATM, BARD1, BRCA1, BRCA2, BRIP1, BMPR1A, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, FLCN, MAX, MET, MITF, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, PMS2, PTEN, RAD50, RAD51C, RAD51D, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, STK11, TMEM127, TP53, TSC1, TSC2, VHL, PALB2, FH, MEN1, SMARCA4, BAP1, POLD1, POLE, GREM1
Melanoma CDKN2A and CDK4 Testing CDKN2A, CDK4
Melanoma-Pancreatic cancer syndrome (M-PCS) CDKN2A and CDK4 Testing CDKN2A, CDK4
MEN2A (Sipple Syndrome) Multiple Endocrine Neoplasia Type 2 (MEN2) RET
MEN2B (Mucosal Neuroma Syndrome) Multiple Endocrine Neoplasia Type 2 (MEN2) RET
Menkes disease Menkes and related syndromes ATP7A
Menkes syndrome Menkes and related syndromes ATP7A
Monogenic Type II Diabetes Maturity-Onset Diabetes of the Young (MODY) Testing HNF1B, HNF4A, PDX1, HNF1A, GCK
Mucopolysaccharidosis Type II (MPSII) Hunter Syndrome IDS
Muir-Torre syndrome Lynch Syndrome EPCAM, MLH1, MSH2, MSH6, PMS2
Multiple Congenital Anomalies Microarrays: 180K Oligo Array and SNP Array
Multiple Endocrine Neoplasia Type 1 Multiple Endocrine Neoplasia Type1 (MEN1) MEN1
Multiple Endocrine Neoplasia Type 2 (MEN2) Multiple Endocrine Neoplasia Type 2 (MEN2) RET
Multiple lentigines syndrome Noonan Syndrome with Multiple Lentigines PTPN11, RAF1
MUTYH-Associated Polyposis (MAP) Adenomatous Polyposis APC, MUTYH
MUTYH-associated polyposis (MAP) MUTYH-associated Polypsis (MAP) MUTYH
Neonatal respiratory failure Surfactant Dysfunction Testing ABCA3, SFTPB, SFTPC
Neonatal seizures Neonatal Seizures (EpiFirst-Neonate) ALDH7A1, KCNQ2, KCNQ3, KCNT1, SCN1A, SCN2A, SCN8A, SIK1, STXBP1, SCN1B
Neuroendocrine tumors PGLNext FH, MAX, MEN1, NF1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL
Neurofibromatosis 1 Neurofibromatosis 1 (NF1) NF1
Neuronal Ceroid Lipofuscinosis Neuronal Ceroid Lipofuscinosis (Batten Disease) ATP13A2, CLN5, CLN6, CLN8, CTSD, CTSF, DNAJC5, GRN, KCTD7, MFSD8, TPP1
Nevoid basal cell carcinoma syndrome (NBCCS) NEVOID BASAL CELL CARCINOMA SYNDROME (GORLIN SYNDROME) PTCH1
Non-lesional focal epilepsy Non-Lesional Focal Epilepsy (EpiFirst-Focal) CRH, CHRNA2, CHRNA4, CHRNB2, DEPDC5, GRIN2A, KCNT1, LGI1, PRRT2, SCN1A, SCN1B
Noonan Syndrome Noonan Syndrome KRAS, PTPN11, RAF1, SOS1
Noonan syndrome with multiple lentigines (NSML) Noonan Syndrome with Multiple Lentigines PTPN11, RAF1
Occipital horn syndrome Menkes and related syndromes ATP7A
Ornithine transcarbamylase (OTC) deficiency ORNITHINE TRANSCARBAMYLASE DEFICIENCY OTC
Osler-Weber-Rendu HHT Sequencing, Del/Dup & SMAD4-Related HHT
Osler-Weber-Rendu syndrome Hereditary Hemorrhagic Telangiectasia (HHT) Testing ACVRL1, ENG, SMAD4, GDF2, RASA1
Ovarian cancer CancerNext APC, ATM, BARD1, BRCA1, BRCA2, BRIP1, BMPR1A, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, GREM1, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, POLD1, POLE, PMS2, PTEN, RAD50, RAD51C, RAD51D, SMAD4, SMARCA4, STK11, TP53
Ovarian cancer CancerNext-Expanded APC, ATM, BARD1, BRCA1, BRCA2, BRIP1, BMPR1A, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, FLCN, MAX, MET, MITF, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, PMS2, PTEN, RAD50, RAD51C, RAD51D, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, STK11, TMEM127, TP53, TSC1, TSC2, VHL, PALB2, FH, MEN1, SMARCA4, BAP1, POLD1, POLE, GREM1
Ovarian cancer GYNplus BRCA1, BRCA2, EPCAM, MLH1, MSH2, MSH6, PMS2, PTEN, TP53
Ovarian cancer OvaNext ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, PMS2, PTEN, RAD50, RAD51C, RAD51D, STK11, TP53, PALB2, SMARCA4
Pancreatic cancer CancerNext APC, ATM, BARD1, BRCA1, BRCA2, BRIP1, BMPR1A, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, GREM1, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, POLD1, POLE, PMS2, PTEN, RAD50, RAD51C, RAD51D, SMAD4, SMARCA4, STK11, TP53
Pancreatic cancer CancerNext-Expanded APC, ATM, BARD1, BRCA1, BRCA2, BRIP1, BMPR1A, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, FLCN, MAX, MET, MITF, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, PMS2, PTEN, RAD50, RAD51C, RAD51D, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, STK11, TMEM127, TP53, TSC1, TSC2, VHL, PALB2, FH, MEN1, SMARCA4, BAP1, POLD1, POLE, GREM1
Pancreatic cancer CDKN2A and CDK4 Testing CDKN2A, CDK4
Pancreatic cancer PALB2 Gene Sequence and Deletion/Duplication PALB2
Pancreatic cancer PancNext APC, ATM, BRCA1, BRCA2, CDKN2A, EPCAM, MLH1, MSH2, MSH6, PMS2, STK11, TP53, PALB2
Pancreatitis Pancreatitis Testing PRSS1, SPINK1, CFTR, CTRC
Paraganglioma CancerNext-Expanded APC, ATM, BARD1, BRCA1, BRCA2, BRIP1, BMPR1A, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, FLCN, MAX, MET, MITF, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, PMS2, PTEN, RAD50, RAD51C, RAD51D, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, STK11, TMEM127, TP53, TSC1, TSC2, VHL, PALB2, FH, MEN1, SMARCA4, BAP1, POLD1, POLE, GREM1
Paraganglioma PGLNext FH, MAX, MEN1, NF1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL
Paraganglioma-Pheochromocytoma (PGL-PCC) Syndrome Paraganglioma-Pheochromocytoma (PGL-PCC) Syndrome Panel MAX, SDHB, SDHC, SDHD, SDHAF2, TMEM127
Peutz-Jeghers syndrome Peutz-Jeghers Syndrome STK11
Pheochromocytoma CancerNext-Expanded APC, ATM, BARD1, BRCA1, BRCA2, BRIP1, BMPR1A, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, FLCN, MAX, MET, MITF, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, PMS2, PTEN, RAD50, RAD51C, RAD51D, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, STK11, TMEM127, TP53, TSC1, TSC2, VHL, PALB2, FH, MEN1, SMARCA4, BAP1, POLD1, POLE, GREM1
Pheochromocytoma Paraganglioma-Pheochromocytoma (PGL-PCC) Syndrome Panel MAX, SDHB, SDHC, SDHD, SDHAF2, TMEM127
Pheochromocytoma PGLNext FH, MAX, MEN1, NF1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL
Pleuropulmonary Blastoma (PPB) Family Tumor and Dysplasia syndrome Pleuropulmonary Blastoma (PPB) Family Tumor and Dysplasia Syndrome, DICER1 Syndrome DICER1
Pneumothorax, Primary Spontaneous (PSP) Birt-Hogg-Dubé Syndrome FLCN
Polyposis Adenomatous Polyposis APC, MUTYH
Polyposis CancerNext APC, ATM, BARD1, BRCA1, BRCA2, BRIP1, BMPR1A, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, GREM1, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, POLD1, POLE, PMS2, PTEN, RAD50, RAD51C, RAD51D, SMAD4, SMARCA4, STK11, TP53
Polyposis ColoNext APC, BMPR1A, CDH1, CHEK2, EPCAM, GREM1, MLH1, MSH2, MSH6, MUTYH, PMS2, POLD1, POLE, PTEN, SMAD4, STK11, TP53
Polyposis GREM1 Duplication Analysis GREM1
Polyposis MUTYH-associated Polypsis (MAP) MUTYH
Polyposis Peutz-Jeghers Syndrome STK11
Polyposis POLD1 and POLE Analysis POLD1, POLE
Postnatal respiratory distress Surfactant Dysfunction Testing ABCA3, SFTPB, SFTPC
Prader-Labhart-Willi syndrome PRADER-WILLI SYNDROME
Prader-Willi syndrome PRADER-WILLI SYNDROME
Primary ciliary dyskinesia (PCD) Primary Ciliary Dyskinesia Testing CFTR, DNAAF1, DNAAF2, DNAH5, DNAH11, DNAI1, DNAI2, OFD1, RPGR, RSPH4A, RSPH9, NME8
Progressive myoclonus epilepsy Progressive Myoclonus Epilepsy (PMEFirst/PMENext) ATP13A2, CLN3, CLN5, CLN6, CLN8, CSTB, CTSD, CTSF, DNAJC5, EPM2A, FOLR1, GOSR2, GRN, KCNC1, KCTD7, MFSD8, NHLRC1, PPT1, PRICKLE1, SCARB2, TPP1
Proteus syndrome PTEN-Related Disorders PTEN
PTEN hamartoma tumor syndrome (PHTS) PTEN-Related Disorders PTEN
PTEN-related disorders PTEN-Related Disorders PTEN
Recurrent idiopathic pancreatitis Pancreatitis Testing PRSS1, SPINK1, CFTR, CTRC
Renal cell carcinoma RenalNext MLH1, MSH2, MSH6, PMS2, PTEN, TP53, VHL, EPCAM, FLCN, TSC2, TSC1, SDHB, MET, MITF, SDHC, SDHD, SDHA, FH, BAP1
Restrictive cardiomyopathy CardioNext ABCC9, BAG3, DES, DMD, EYA4, FKTN, LAMA4, LMNA, RBM20, SCN5A, TMPO, TTN, TXNRD2, ACTN2, ANKRD1, CSRP3, LAMP2, MYBPC3, MYH6, MYH7, MYPN, NEXN, PLN, TCAP, TNNC1, TNNI3, VCL, RAF1, ACTC1, TNNT2, TPM1, LDB3/ZASP, FXN, JPH2, MYL2, MYL3, MYOZ2, PTPN11, DSG2, DSP, DSC2, JUP, PKP2, TGFB3, TMEM43, RYR2, CRYAB, EMD, GATAD1, TTR, ANK2, CALM1, CASQ2, KCNJ2, TRDN, AKAP9, CACNA1C, CACNA2D1, CACNB2, CAV3, GPD1L, HCN4, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ8, KCNQ1, SCN1B, SCN4B, SCN3B, SNTA1, TRPM4, GATA4, JAG1, KCNJ5, NKX2.5, SCN2B, TAZ, TBX1, TBX5, TBX20, PRKAG2
Restrictive cardiomyopathy CMNext ABCC9, ACTC1, ACTN2, ANKRD1, BAG3, CRYAB, CSRP3, DES, DMD, DSC2, DSG2, DSP, EMD, EYA4, FKTN, FXN, GATAD1, 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, TTN, TTR, TXNRD2, VCL
Retinoblastoma Retinoblastoma RB1
Rett syndrome Rett And Angelman Syndromes ARX, ATRX, CDKL5, CNTNAP2, DYRK1A, EHMT1, FOXG1, IQSEC2, MBD5, MECP2, MEF2C, NRXN1, PCDH19, PNKP, SATB2, SHANK3, SLC2A1, SLC9A6, STXBP1, TCF4, UBE3A, ZEB2
Revesz syndrome Dyskeratosis Congenita DKC1, NHP2, NOP10, TERC, TERT, TINF2, WRAP53
Romano-Ward syndrome Long QT Syndrome (LQTS)
Rubinstein-Taybi syndrome RUBINSTEIN-TAYBI SYNDROME CREBBP
SH2D1A-Related X-linked lymphoproliferative disease (XLP) SH2D1A-Related X-linked lymphoproliferative disease SH2D1A
Short QT syndrome (SQTS) CardioNext ABCC9, BAG3, DES, DMD, EYA4, FKTN, LAMA4, LMNA, RBM20, SCN5A, TMPO, TTN, TXNRD2, ACTN2, ANKRD1, CSRP3, LAMP2, MYBPC3, MYH6, MYH7, MYPN, NEXN, PLN, TCAP, TNNC1, TNNI3, VCL, RAF1, ACTC1, TNNT2, TPM1, LDB3/ZASP, FXN, JPH2, MYL2, MYL3, MYOZ2, PTPN11, DSG2, DSP, DSC2, JUP, PKP2, TGFB3, TMEM43, RYR2, CRYAB, EMD, GATAD1, TTR, ANK2, CALM1, CASQ2, KCNJ2, TRDN, AKAP9, CACNA1C, CACNA2D1, CACNB2, CAV3, GPD1L, HCN4, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ8, KCNQ1, SCN1B, SCN4B, SCN3B, SNTA1, TRPM4, GATA4, JAG1, KCNJ5, NKX2.5, SCN2B, TAZ, TBX1, TBX5, TBX20, PRKAG2
Short QT syndrome (SQTS) RhythmFirst and RhythmNext LMNA, SCN5A, DSG2, DSP, DSC2, JUP, PKP2, TGFB3, TMEM43, RYR2, ANK2, CALM1, CASQ2, KCNJ2, TRDN, AKAP9, CACNA1C, CACNA2D1, CACNB2, CAV3, GPD1L, HCN4, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ8, KCNQ1, SCN1B, SCN4B, SCN3B, SNTA1, TRPM4, NKX2.5, TBX5
Shprintzen-Goldberg syndrome TAADNEXT ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA, MED12, MYH11, MYLK, NOTCH1, PLOD1, PRKG1, SKI, SLC2A10, SMAD3, TGFB2, TGFBR1, TGFBR2, SMAD4, TGFB3
Shwachman-Bodian syndrome Shwachman-Diamond Syndrome SBDS
Shwachman-Bodian-Diamond Syndrome Shwachman-Diamond Syndrome SBDS
Shwachman-Diamond Syndrome (SDS) Shwachman-Diamond Syndrome SBDS
Shwachman’s syndrome Shwachman-Diamond Syndrome SBDS
Sickle Cell Anemia Beta Thalassemia (Sickle Cell Anemia, Sickle-Beta-Thalassemia) HBB
Sickle-Beta-Thalassemia Beta Thalassemia (Sickle Cell Anemia, Sickle-Beta-Thalassemia) HBB
Smith-Lemli-Opitz Syndrome Smith-Lemli-Opitz Syndrome (SLOS) DHCR7
Smith-Magenis syndrome Smith-Magenis syndrome RAI1
Sotos syndrome Sotos Syndrome NSD1
Sudden cardiac arrest RhythmFirst and RhythmNext LMNA, SCN5A, DSG2, DSP, DSC2, JUP, PKP2, TGFB3, TMEM43, RYR2, ANK2, CALM1, CASQ2, KCNJ2, TRDN, AKAP9, CACNA1C, CACNA2D1, CACNB2, CAV3, GPD1L, HCN4, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ8, KCNQ1, SCN1B, SCN4B, SCN3B, SNTA1, TRPM4, NKX2.5, TBX5
Surfactant Dysfunction Surfactant Dysfunction Testing ABCA3, SFTPB, SFTPC
Syndromic Bile Duct Paucity Alagille Syndrome Testing JAG1
Tay-Sachs Disease Tay-Sachs Disease HEXA
Telomere-related pulmonary fibrosis Telomere-Related Pulmonary Fibrosis TERC, TERT
Transthyretin Amyloidosis Transthyretin Amyloidosis TTR
Tuberous sclerosis complex (TSC) Tuberous Sclerosis Complex TSC1, TSC2
Turcot Syndrome Familial Adenomatous Polyposis APC
Turcot syndrome Lynch Syndrome EPCAM, MLH1, MSH2, MSH6, PMS2
Uterine cancer CancerNext APC, ATM, BARD1, BRCA1, BRCA2, BRIP1, BMPR1A, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, GREM1, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, POLD1, POLE, PMS2, PTEN, RAD50, RAD51C, RAD51D, SMAD4, SMARCA4, STK11, TP53
Uterine cancer CancerNext-Expanded APC, ATM, BARD1, BRCA1, BRCA2, BRIP1, BMPR1A, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, FLCN, MAX, MET, MITF, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, PMS2, PTEN, RAD50, RAD51C, RAD51D, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, STK11, TMEM127, TP53, TSC1, TSC2, VHL, PALB2, FH, MEN1, SMARCA4, BAP1, POLD1, POLE, GREM1
Uterine cancer GYNplus BRCA1, BRCA2, EPCAM, MLH1, MSH2, MSH6, PMS2, PTEN, TP53
Uterine cancer Lynch Syndrome EPCAM, MLH1, MSH2, MSH6, PMS2
Uterine cancer OvaNext ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, PMS2, PTEN, RAD50, RAD51C, RAD51D, STK11, TP53, PALB2, SMARCA4
Van Bogaert-Bertrand syndrome Canavan Disease Testing ASPA
von Hipple-Lindau (VHL) disease Von Hippel-Lindau Disease VHL
von Recklinghausen disease Neurofibromatosis 1 (NF1) NF1
Wilson Disease Wilson Disease ATP7B
X-linked adrenoleukodystrophy X-Linked Adrenoleukodystrophy ABCD1
X-Linked Intellectual Disability Fragile X-Associated Disorders FMR1
X-linked periventricular nodular heterotopia, EDS variant TAADNEXT ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA, MED12, MYH11, MYLK, NOTCH1, PLOD1, PRKG1, SKI, SLC2A10, SMAD3, TGFB2, TGFBR1, TGFBR2, SMAD4, TGFB3
Zinsser-Cole-Engman syndrome Dyskeratosis Congenita DKC1, NHP2, NOP10, TERC, TERT, TINF2, WRAP53