Acromelic frontonasal dysostosis ZSWIM6
Del Dup
NGS
Acromesomelic dysplasia, Hunter-Thompson type GDF5
Del Dup
NGS
Acromesomelic dysplasia, Maroteaux type NPR2
Del Dup
NGS
Aortic aneurysm, familial thoracic 7 MYLK
Del Dup
NGS
Atrial fibrillation NGS panel ABCC9, GATA6, GJA5, HCN4, KCNA5, KCND3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, LMNA, MYL4, NPPA, NUP155, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, TBX5
Del Dup
NGS
Atrioventricular block NGS Panel DES, EMD, LMNA, NKX2-5, SCN1B, SCN5A, TRPM4
Del Dup
NGS
Axial spondylometaphyseal dysplasia NGS panel C21orf2, NEK1
Del Dup
NGS
Basal cell nevus syndrome - SUFU SUFU
Del Dup
NGS
Birt-Hogg-Dube syndrome FLCN
Del Dup
NGS
Brugada syndrome and related disorders NGS panel ABCC9, ANK2, CACNA1C, CACNA2D1, CACNB2, CAV3, FGF12, GPD1L, HCN4, KCND2, KCND3, KCNE5, KCNH2, KCNJ8, PKP2, RANGRF, SCN10A, SCN1B, SCN2B, SCN3B, SCN5A, SEMA3A, SLMAP, TRPM4
Del Dup
NGS
Caffey disease COL1A1
Del Dup
NGS
Cardiac channelopathy NGS panel ABCC9, AKAP9, ANK2, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, FGF12, GPD1L, HCN4, KCND2, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, NOS1AP, PKP2, RANGRF, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SEMA3A, SLMAP, SNTA1, TECRL, TRDN, TRPM4
Del Dup
NGS
Cardiac valvular dysplasia, X-linked FLNA
Del Dup
NGS
Catecholaminergic polymorphic ventricular tachycardia NGS panel ANK2, CALM1, CALM2, CALM3, CASQ2, KCNJ2, RYR2, TECRL, TRDN
Del Dup
NGS
Chondrodysplasia, Grebe type GDF5
Del Dup
NGS
Cleft lip, cleft palate and related disorders NGS panel COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, FOXE1, GRHL3, IRF6, NECTIN1, SATB2, TBX22, TGDS, TP63
Del Dup
NGS
Cleidocranial dysplasia RUNX2
Del Dup
NGS
Congenital contracture syndrome extended NGS panel ADCY6, ADGRG6, CHRNA1, CHRND, CHRNG, CNTNAP1, DNM2, DOK7, ECEL1, ERBB3, FBN2, GLDN, GLE1, LGI4, LMNA, MUSK, MYBPC1, MYH3, MYH8, NALCN, NEK9, PIEZO2, PIP5K1C, RAPSN, TNNI2, TNNT3, TPM2, VIPAS39, VPS33B, ZBTB42, ZMPSTE24
Del Dup
NGS
Cutis laxa NGS panel ALDH18A1, ATP6V0A2, ATP6V1A, ATP6V1E1, EFEMP2, ELN, FBLN5, LTBP4, PYCR1
Del Dup
NGS
Desbuquois dysplasia and related disorders NGS panel B3GALT6, B3GAT3, CANT1, CHST3, CSGALNACT1, FLNB, GZF1, IMPAD1, KIF22, SLC26A2, XYLT1
Del Dup
NGS
Diamond-Blackfan anemia NGS panel GATA1, RPL11, RPL15, RPL26, RPL27, RPL31, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS27, RPS28, RPS29, RPS7, TSR2
Del Dup
NGS
Diaphanospondylodysostosis BMPER
Del Dup
NGS
Dyggve-Melchior-Clausen disease NGS panel DYM, RAB33B
Del Dup
NGS
Ectodermal dysplasia NGS panel EDA, EDAR, EDARADD, GJB6, HOXC13, KDF1, KRT74, KRT85, MSX1
Del Dup
NGS
Ehlers-Danlos syndrome, progeroid type, 2 B3GALT6
Del Dup
NGS
Exostoses, multiple, type I EXT1
Del Dup
NGS
Exostoses, multiple, type II EXT2
Del Dup
NGS
Fibrodysplasia ossificans progressiva ACVR1
Del Dup
NGS
Fibular hypoplasia and complex brachydactyly GDF5
Del Dup
NGS
Focal dermal hypoplasia PORCN
Del Dup
NGS
Frontometaphyseal dysplasia FLNA
Del Dup
NGS
Frontonasal dysplasia and Craniofrontonasal syndrome NGS panel ALX1, ALX3, ALX4, EFNB1, SIX2
Del Dup
NGS
Geleophysic dysplasia 1 ADAMTSL2
Del Dup
NGS
Genitopatellar syndrome KAT6B
Del Dup
NGS
Glass syndrome SATB2
Del Dup
NGS
Gracile bone dysplasia FAM111A
Del Dup
NGS
Hypotrichosis NGS panel APCDD1, CDSN, DSG4, HR, KRT71, KRT74, LIPH, LPAR6, RPL21, SNRPE
Del Dup
NGS
Ichthyosis NGS panel ABCA12, ALOX12B, ALOXE3, CASP14, CDSN, CERS3, CHST8, CSTA, CYP4F22, FLG, GJA1, GJB3, GJB4, KDSR, KRT1, KRT10, KRT2, LIPN, LOR, NIPAL4, PNPLA1, POMP, SERPINB8, ST14, STS, SULT2B1, TGM1, TGM5
Del Dup
NGS
Insulin-like growth factor I deficiency IGF1
Del Dup
NGS
Insulin-like growth factor I deficiency and Insulin-like growth factor I, resistance to NGS panel IGF1, IGF1R
Del Dup
NGS
Insulin-like growth factor I, resistance to IGF1R
Del Dup
NGS
KBG syndrome ANKRD11
Del Dup
NGS
Kenny-Caffey syndrome NGS panel FAM111A, TBCE
Del Dup
NGS
Kenny-Caffey syndrome, type 1 TBCE
Del Dup
NGS
Kenny-Caffey syndrome, type 2 FAM111A
Del Dup
NGS
Larsen syndrome, autosomal dominant FLNB
Sanger
Del Dup
NGS
Leber congenital amaurosis and related disorders NGS panel AIPL1, ALMS1, CABP4, CEP290, CLUAP1, CNGA3, CRB1, CRX, DTHD1, GDF6, GUCY2D, IFT140, IMPDH1, INPP5E, IQCB1, KCNJ13, LCA5, LRAT, MERTK, MYO7A, NMNAT1, OTX2, PRPH2, RD3, RDH12, RDH5, ROM1, RPE65, RPGRIP1, SNRNP200, SPATA7, TULP1
Del Dup
NGS
Lethal congenital contractual syndrome and related disorders NGS Panel ADCY6, ADGRG6, CHRNA1, CHRND, CHRNG, CNTNAP1, DNM2, DOK7, ERBB3, GLDN, GLE1, LGI4, LMNA, MUSK, MYBPC1, NEK9, PIP5K1C, RAPSN, VIPAS39, VPS33B, ZBTB42, ZMPSTE24
Del Dup
NGS
Limb girdle muscular dystrophy NGS panel ANO5, CAPN3, CAV3, DAG1, DES, DNAJB6, DYSF, EMD, FHL1, FKRP, FKTN, FLNC, GAA, GMPPB, HNRNPDL, ISPD, LARGE1, LIMS2, LMNA, MYOT, PLEC, POMGNT1, POMK, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, TCAP, TNPO3, TOR1AIP1, TRAPPC11, TRIM32, TTN
Del Dup
NGS
Loeys-Dietz syndrome core NGS panel TGFBR1, TGFBR2
Del Dup
NGS
Long QT syndrome NGS panel AKAP9, ANK2, CACNA1C, CALM1, CALM2, CALM3, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, NOS1AP, RYR2, SCN4B, SCN5A, SNTA1, TRDN
Del Dup
NGS
Mandibulofacial dysostosis and related disorders NGS panel DHODH, EFTUD2, POLR1A, POLR1C, POLR1D, SF3B4, TCOF1, TXNL4A
Del Dup
NGS
Marfan syndrome and Loeys-Dietz syndrome core NGS panel FBN1, TGFBR1, TGFBR2
Del Dup
NGS
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel ACTA2, BGN, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA, FOXE3, LOX, MAT2A, MED12, MFAP5, MYH11, MYLK, NOTCH1, PRKG1, SKI, SLC2A10, SMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2
Del Dup
NGS
Meier-Gorlin syndrome NGS panel CDC45, CDC6, CDT1, GMNN, MCM5, ORC1, ORC4, ORC6
Del Dup
NGS
Melnick-Needles syndrome FLNA
Del Dup
NGS
Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly RUNX2
Del Dup
NGS
Microcephalic primordial dwarfism NGS panel ATR, ATRIP, CDC45, CDC6, CDT1, CENPJ, CEP152, CEP63, DNA2, DONSON, GMNN, LIG4, NIN, ORC1, ORC4, ORC6, PCNT, RBBP8, RNU4ATAC, TRAIP, XRCC4
Del Dup
NGS
Microcephaly-capillary malformation syndrome STAMBP
Del Dup
NGS
Mowat-Wilson syndrome ZEB2
Del Dup
NGS
Multiple exostoses NGS panel EXT1, EXT2
Del Dup
NGS
Multiple pterygium syndrome, lethal type & Escobar variant CHRNG
Del Dup
NGS
Multiple pterygium syndrome, lethal type - CHRNA1 CHRNA1
Del Dup
NGS
Multiple pterygium syndrome, lethal type - CHRND CHRND
Del Dup
NGS
Multiple pterygium syndrome, lethal type NGS panel CHRNA1, CHRND, CHRNG
Del Dup
NGS
Myhre syndrome SMAD4
Sanger
Del Dup
Nephrolithiasis and related disorders NGS panel ADCY10, AGXT, AP2S1, APRT, ATP6V0A4, ATP6V1B1, CA2, CASR, CLCN5, CLDN16, CLDN19, CYP24A1, FAM20A, GNA11, GRHPR, HNF4A, HOGA1, HPRT1, KCNJ1, OCRL, SLC12A1, SLC22A12, SLC26A1, SLC2A9, SLC34A1, SLC34A3, SLC3A1, SLC4A1, SLC7A9, SLC9A3R1, XDH
Del Dup
NGS
Neu-Laxova syndrome 1 PHGDH
Del Dup
NGS
Neu-Laxova syndrome 2 PSAT1
Del Dup
NGS
Neu-Laxova syndrome NGS panel PHGDH, PSAT1
Del Dup
NGS
Noonan spectrum disorder NGS panel A2ML1, ACTB, ACTG1, BRAF, CABIN1, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NF2, NRAS, NSUN2, PPP1CB, PTPN11, RAF1, RASA2, RIT1, RRAS, SHOC2, SOS1, SOS2, SPRED1
Del Dup
NGS
Ohdo syndrome, SBBYS variant KAT6B
Del Dup
NGS
Omodysplasia 1 GPC6
Del Dup
NGS
Osteopetrosis, autosomal recessive 6 PLEKHM1
Del Dup
NGS
Otopalatodigital syndrome, type I / II FLNA
Del Dup
NGS
Overgrowth syndrome NGS panel EED, EZH2, GPC3, NFIX, NSD1, OFD1, PIGA
Del Dup
NGS
Periventricular nodular heterotopia 1 FLNA
Del Dup
NGS
Phosphoglycerate dehydrogenase deficiency PHGDH
Del Dup
NGS
Phosphoserine aminotransferase deficiency PSAT1
Del Dup
NGS
Pneumothorax, primary spontaneous FLCN
Del Dup
NGS
Polycystic kidney disease and related disorders NGS panel ALG9, ANKS6, ATP6V0A4, BICC1, GANAB, GLIS3, HNF1B, INVS, LRP5, MUC1, NOTCH2, NPHP3, OFD1, PKD1, PKD2, PKHD1, TMEM231, TSC1, TSC2, UMOD, ZNF423
Del Dup
NGS
Polycystic liver disease NGS panel GANAB, LRP5, PKD1, PKD2, PKHD1, PRKCSH, SEC63
Del Dup
NGS
Popliteal pterygium syndrome IRF6
Del Dup
NGS
Postaxial acrofacial dysostosis DHODH
Del Dup
NGS
Progressive familial heart block type I NGS panel SCN5A, TRPM4
Del Dup
NGS
Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome FLVCR2
Del Dup
NGS
Roberts syndrome & SC phocomelia syndrome ESCO2
Del Dup
NGS
Robinow syndrome, autosomal dominant 2 DVL1
Del Dup
NGS
Short QT syndrome NGS panel CACNA1C, CACNA2D1, CACNB2, KCNH2, KCNJ2, KCNQ1
Del Dup
NGS
Skeletal dysplasia ciliopathy NGS panel C21orf2, CEP120, DYNC2H1, DYNC2LI1, EVC, EVC2, IFT122, IFT140, IFT172, IFT43, IFT52, IFT80, KIAA0586, NEK1, TTC21B, WDR19, WDR34, WDR35, WDR60
Del Dup
NGS
Smith-Lemli-Opitz syndrome DHCR7
Del Dup
NGS
Smith-McCort dysplasia NGS panel DYM, RAB33B
Del Dup
NGS
Snyder-Robinson mental retardation syndrome SMS
Del Dup
NGS
Spondylo-Epi-Metaphyseal dysplasias NGS panel ACP5, B3GALT6, B3GAT3, BGN, C21orf2, CANT1, CHST3, COL10A1, COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, COMP, DDR2, DYM, EIF2AK3, FGFR3, FLNB, GPX4, HSPG2, IHH, IMPAD1, INPPL1, KIF22, LIFR, LONP1, MATN3, MMP13, MMP9, NANS, NEK1, NKX3-2, NPR2, PAM16, PAPSS2, PCYT1A, PTH1R, RAB33B, RMRP, RNU4ATAC, RSPRY1, RUNX2, SBDS, SLC26A2, SMARCAL1, TRAPPC2, TRPV4, WISP3, XYLT1
Del Dup
NGS
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures B3GALT6
Del Dup
NGS
Spondyloepiphyseal dysplasia tarda, X-linked TRAPPC2
Sanger
Del Dup
Spondyloocular syndrome XYLT2
Del Dup
NGS
Stiff skin syndrome FBN1
Del Dup
NGS
Terminal osseous dysplasia FLNA
Del Dup
NGS
Torg-Winchester syndrome MMP2
Del Dup
NGS
Treacher Collins syndrome core NGS panel POLR1C, POLR1D, TCOF1
Del Dup
NGS
Trichorhinophalangeal syndrome, type I / III TRPS1
Del Dup
NGS
Tuberous sclerosis NGS panel TSC1, TSC2
Del Dup
NGS
Van der Woude syndrome 1 IRF6
Del Dup
NGS
Van der Woude syndrome 2 GRHL3
Del Dup
NGS
Van der Woude syndrome NGS panel GRHL3, IRF6
Del Dup
NGS
Weaver and Cohen-Gibson syndrome NGS panel EED, EZH2
Del Dup
NGS
Zimmermann-Laband syndrome 1 KCNH1
Del Dup
NGS
Zimmermann-Laband syndrome 2 ATP6V1B2
Del Dup
NGS
Zimmermann-Laband syndrome NGS panel ATP6V1B2, KCNH1
Del Dup
NGS

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