Test Catalogue by Panel | Connective Tissue Gene Tests

Browse CTGT's test catalogue by panel.

Abnormal mineralization disorders NGS panel (15 genes)	ALPL, ANKH, CASR, CLCN5, CYP27B1, DMP1, ENPP1, FAH, FGF23, OCRL, PHEX, SLC34A1, SLC34A3, SLC9A3R1, VDR	NGS Del Dup
Achondrogenesis NGS panel (3 genes)	COL2A1, SLC26A2, TRIP11	NGS Del Dup
Adams-Oliver syndrome NGS panel (6 genes)	ARHGAP31, DLL4, DOCK6, EOGT, NOTCH1, RBPJ	NGS Del Dup
Alagille syndrome NGS panel (3 genes)	ATP8B1, JAG1, NOTCH2	Del Dup NGS
Alpha Thalassemia Carrier Screening (2 genes)	HBA1, HBA2	Comp
Alport syndrome NGS panel (4 genes)	COL4A3, COL4A4, COL4A5, COL4A6	Del Dup NGS
Amelogenesis imperfecta and related disorders NGS panel (16 genes)	AMELX, C4ORF26, DLX3, DSPP, ENAM, FAM20A, FAM83H, GPR68, ITGB6, KLK4, LAMA3, LAMB3, MMP20, SLC24A4, SMOC2, WDR72	NGS Del Dup
Amyotrophic lateral sclerosis and related disorders NGS panel (24 genes)	ALS2, ANG, ARHGEF28, CHCHD10, CHMP2B, ERBB4, FIG4, FUS, HNRNPA1, HNRNPA2B1, MATR3, OPTN, PFN1, SETX, SIGMAR1, SOD1, SPG11, SQSTM1, TARDBP, TBK1, TUBA4A, UBQLN2, VAPB, VCP	Del Dup NGS
Arterial calcification, generalized, of infancy NGS panel (2 genes)	ABCC6, ENPP1	Del Dup NGS
Atrial fibrillation NGS panel (22 genes)	ABCC9, GATA6, GJA5, GLA, 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 (9 genes)	DES, EMD, GAA, GLA, LMNA, NKX2-5, SCN1B, SCN5A, TRPM4	Del Dup NGS
Atypical hemolytic uremic syndrome susceptibility and related disorders NGS panel (13 genes)	ADAMTS13, C3, CD46, CFB, CFH, CFHR1, CFHR2, CFHR3, CFHR5, CFI, DGKE, MMACHC, THBD	Del Dup NGS
Auriculocondylar syndrome NGS panel (3 genes)	EDN1, GNAI3, PLCB4	Del Dup NGS
Axial spondylometaphyseal dysplasia NGS panel (2 genes)	C21orf2, NEK1	Del Dup NGS
Bartter syndrome and related disorders NGS panel (9 genes)	BSND, CASR, CLCNKA, CLCNKB, GNA11, KCNJ1, MAGED2, SLC12A1, SLC12A3	NGS Del Dup
Basal cell nevus syndrome NGS panel (3 genes)	PTCH1, PTCH2, SUFU	Del Dup NGS
Bethlem myopathy & Ullrich congenital muscular dystrophy NGS panel (4 genes)	COL12A1, COL6A1, COL6A2, COL6A3	NGS Del Dup
Blepharocheilodontic syndrome NGS panel (2 genes)	CDH1, CTNND1	Del Dup NGS
Brittle cornea syndrome NGS panel (2 genes)	PRDM5, ZNF469	Del Dup NGS
Brugada syndrome and related disorders NGS panel (27 genes)	ABCC9, ANK2, CACNA1C, CACNA2D1, CACNB2, CAV3, FGF12, GAA, GLA, GPD1L, HCN4, KCND2, KCND3, KCNE3, KCNE5, KCNH2, KCNJ8, PKP2, RANGRF, SCN10A, SCN1B, SCN2B, SCN3B, SCN5A, SEMA3A, SLMAP, TRPM4	NGS Del Dup
CADASIL NGS panel (2 genes)	HTRA1, NOTCH3	NGS Del Dup
Cantu syndrome NGS panel (2 genes)	ABCC9, KCNJ8	Del Dup NGS
Cardiac channelopathy NGS panel (41 genes)	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	NGS Del Dup
Catecholaminergic polymorphic ventricular tachycardia NGS panel (9 genes)	ANK2, CALM1, CALM2, CALM3, CASQ2, KCNJ2, RYR2, TECRL, TRDN	Del Dup NGS
Cerebral cavernous malformations NGS panel (3 genes)	CCM2, KRIT1, PDCD10	Del Dup NGS
Cerebral small vessel disease NGS panel (7 genes)	COL4A1, COL4A2, CTC1, GLA, HTRA1, NOTCH3, TREX1	NGS Del Dup
Cerebrooculofacioskeletal syndrome NGS panel (4 genes)	ERCC1, ERCC2, ERCC5, ERCC6	NGS Del Dup
Charcot-Marie-Tooth disease NGS panel (43 genes)	AARS, AIFM1, ATP1A1, BSCL2, C12ORF65, COX6A1, DHTKD1, DNM2, DYNC1H1, EGR2, FGD4, FIG4, GARS, GDAP1, GJB1, GNB4, HADHB, HSPB1, HSPB8, KARS, KIF1B, LITAF, LMNA, LRSAM1, MED25, MFN2, MPZ, MTMR2, NDRG1, NEFL, PDK3, PLEKHG5, PMP22, PRPS1, PRX, RAB7A, SBF1, SBF2, SH3TC2, TFG, TRIM2, TRPV4, YARS	NGS Del Dup
Cholestasis NGS Panel (4 genes)	ABCB11, ABCB4, ATP8B1, TJP2	Del Dup NGS
Chondrodysplasia punctata and related disorders NGS panel (10 genes)	AGPS, ARSE, EBP, FAR1, GNPAT, LBR, MGP, NSDHL, PEX5, PEX7	Del Dup NGS
Cleft lip, cleft palate and related disorders NGS panel (17 genes)	BMP4, COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, FOXE1, GRHL3, IRF6, MSX1, NECTIN1, SATB2, SUMO1, TBX22, TGDS, TP63	Del Dup NGS
Cockayne syndrome NGS panel (2 genes)	ERCC6, ERCC8	Del Dup NGS
Cole-Carpenter syndrome NGS panel (2 genes)	P4HB, SEC24D	Del Dup NGS
Common Carrier Screening Panel (18 genes)	ASPA, BCKDHA, BLM, CFTR, DMD, ELP1, FANCC, FMR1, GBA, HBA1, HBA2, HBB, HEXA, MCOLN1, PAH, SMN1, SMN2, SMPD1	Comp
Congenital contracture syndrome extended NGS panel (31 genes)	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	NGS Del Dup
Congenital heart disease NGS panel (16 genes)	CHD7, ELN, GATA4, GATA6, GDF1, JAG1, NKX2-5, NKX2-6, NOTCH1, NOTCH2, NR2F2, TAB2, TBX1, TBX20, TBX5, ZIC3	Del Dup NGS
Connective tissue disorder NGS panel (47 genes)	ACTA2, ADAMTS2, AEBP1, ATP7A, B3GALT6, B4GALT7, BGN, C1R, C1S, CBS, CHST14, COL12A1, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, DCHS1, DSE, FBN1, FBN2, FKBP14, FLCN, FLNA, FOXE3, LOX, LTBP3, MAT2A, MED12, MFAP5, MYH11, MYLK, NOTCH1, PLOD1, PRDM5, PRKG1, SKI, SLC2A10, SLC39A13, SMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2, ZNF469	Del Dup NGS
Cornelia de Lange syndrome and related disorders NGS panel (8 genes)	AFF4, ANKRD11, HDAC8, KMT2A, NIPBL, RAD21, SMC1A, SMC3	Del Dup NGS
Craniosynostosis core NGS panel (5 genes)	FGFR1, FGFR2, FGFR3, TCF12, TWIST1	NGS Del Dup
Craniosynostosis NGS panel (26 genes)	CDC45, CYP26B1, EFNB1, ERF, FGFR1, FGFR2, FGFR3, FREM1, GLI3, IFT122, IFT43, IL11RA, MEGF8, MSX2, POR, RAB23, RECQL4, SKI, SLC25A24, TCF12, TGFBR1, TGFBR2, TWIST1, WDR19, WDR35, ZIC1	NGS Del Dup
Cutis laxa NGS panel (9 genes)	ALDH18A1, ATP6V0A2, ATP6V1A, ATP6V1E1, EFEMP2, ELN, FBLN5, LTBP4, PYCR1	NGS Del Dup
Dense bone dysplasia NGS panel (14 genes)	ANKH, COL1A1, DLX3, GJA1, HPGD, LRP4, MTAP, PTDSS1, SLCO2A1, SOST, TBXAS1, TGFB1, TNFRSF11B, TYROBP	NGS Del Dup
Desbuquois dysplasia and related disorders NGS panel (11 genes)	B3GALT6, B3GAT3, CANT1, CHST3, CSGALNACT1, FLNB, GZF1, IMPAD1, KIF22, SLC26A2, XYLT1	Del Dup NGS
Desbuquois dysplasia core NGS panel (4 genes)	CANT1, CSGALNACT1, IMPAD1, XYLT1	NGS Del Dup
Diamond-Blackfan anemia NGS panel (18 genes)	GATA1, RPL11, RPL15, RPL26, RPL27, RPL31, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS27, RPS28, RPS29, RPS7, TSR2	NGS Del Dup
Distal arthrogryposes NGS panel (10 genes)	ECEL1, FBN2, MYBPC1, MYH3, MYH8, NALCN, PIEZO2, TNNI2, TNNT3, TPM2	NGS Del Dup
Distal hereditary motor neuropathy and related disorders NGS panel (24 genes)	ATP7A, BICD2, BSCL2, DCAF8, DCTN1, DNAJB2, DYNC1H1, FBXO38, GAN, GARS, GJB1, HARS, HINT1, HSPB1, HSPB3, HSPB8, IGHMBP2, PDK3, PLEKHG5, REEP1, SETX, SIGMAR1, SLC5A7, TRPV4	Del Dup NGS
Distal Myopathy NGS panel (20 genes)	ANO5, BAG3, CAV3, CRYAB, DES, DNAJB6, DNM2, DYSF, FHL1, FLNC, GNE, LDB3, MATR3, MYH7, MYOT, SQSTM1, TCAP, TIA1, TTN, VCP	Del Dup NGS
Dyggve-Melchior-Clausen disease NGS panel (2 genes)	DYM, RAB33B	Del Dup NGS
Dyskeratosis congenita NGS panel (12 genes)	ACD, CTC1, DKC1, NHP2, NOP10, PARN, RTEL1, TERC, TERT, TINF2, USB1, WRAP53	NGS Del Dup
Ectodermal dysplasia NGS panel (10 genes)	EDA, EDAR, EDARADD, GJB6, HOXC13, KDF1, KREMEN1, KRT74, KRT85, MSX1	Del Dup NGS
Ectopia lentis NGS panel (2 genes)	ADAMTSL4, FBN1	Del Dup NGS
Ehlers-Danlos syndrome core NGS panel (3 genes)	COL3A1, COL5A1, COL5A2	NGS Del Dup
Ehlers-Danlos syndrome NGS panel - Dominant (9 genes)	C1R, C1S, COL12A1, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, FLNA	Del Dup NGS
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive (21 genes)	ADAMTS2, AEBP1, ATP7A, B3GALT6, B4GALT7, C1R, C1S, CHST14, COL12A1, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, DSE, FKBP14, FLNA, PLOD1, PRDM5, SLC39A13, ZNF469	NGS Del Dup
Ehlers-Danlos syndrome NGS panel - Recessive (13 genes)	ADAMTS2, AEBP1, ATP7A, B3GALT6, B4GALT7, CHST14, COL1A2, DSE, FKBP14, PLOD1, PRDM5, SLC39A13, ZNF469	NGS Del Dup
Ehlers-Danlos syndrome, arthrochalasia type NGS panel (2 genes)	COL1A1, COL1A2	Del Dup NGS
Ehlers-Danlos syndrome, classic type NGS panel (2 genes)	COL5A1, COL5A2	Del Dup NGS
Ehlers-Danlos syndrome, periodontal type NGS panel (2 genes)	C1R, C1S	Del Dup NGS
Ehlers-Danlos syndrome, spondylodysplastic type NGS panel (3 genes)	B3GALT6, B4GALT7, SLC39A13	Del Dup NGS
Ellis-van Creveld syndrome and Weyers acrofacial dysostosis NGS Panel (2 genes)	EVC, EVC2	Del Dup NGS
Epidermolysis bullosa NGS panel (24 genes)	CAST, CDSN, CHST8, COL17A1, COL7A1, CSTA, DSP, DST, EXPH5, FERMT1, ITGA3, ITGA6, ITGB4, JUP, KLHL24, KRT14, KRT5, LAMA3, LAMB3, LAMC2, PKP1, PLEC, SERPINB8, TGM5	Del Dup NGS
Erythrokeratodermias and related disorders NGS panel (7 genes)	DSP, GJA1, GJB3, GJB4, KDSR, KRT83, LOR	NGS Del Dup
Extended Carrier Screening panel (47 genes)	ACADM, ARSA, ARSB, ASPA, ASS1, BCKDHA, BCKDHB, BLM, BTD, CFTR, DHCR7, DMD, ELP1, FANCC, FMR1, G6PC, GAA, GALC, GALE, GALK1, GALT, GAMT, GATM, GBA, GLA, HBA1, HBA2, HBB, HEXA, HFE, IDS, IDUA, IVD, MCOLN1, MMACHC, OTC, PAH, PHKA2, PHKG2, PKHD1, PYGL, SLC37A4, SLC6A8, SMN1, SMN2, SMPD1, SUMF1	Comp
Exudative vitreoretinopathy NGS panel (7 genes)	CAPN5, FZD4, KIF11, LRP5, NDP, TSPAN12, ZNF408	Del Dup NGS
FGFR1, FGFR2 and FGFR3 related craniosynostosis panel	FGFR1, FGFR2, FGFR3	Sanger
FGFR1, FGFR2, FGFR3 & TWIST1 related craniosynostosis panel	FGFR1, FGFR2, FGFR3, TWIST1	Sanger
Fibrillinopathy NGS panel (3 genes)	CBS, FBN1, FBN2	NGS Del Dup
Fibrochondrogenesis NGS panel (2 genes)	COL11A1, COL11A2	Del Dup NGS
Frontometaphyseal dysplasia NGS panel (3 genes)	FLNA, MAP3K7, TAB2	Del Dup NGS
Frontonasal dysplasia and Craniofrontonasal syndrome NGS panel (5 genes)	ALX1, ALX3, ALX4, EFNB1, SIX2	Del Dup NGS
Glomuvenous malformations and Cutaneomucosal venous malformations NGS panel (2 genes)	GLMN, TEK	Del Dup NGS
Hereditary Hemorrhagic telangiectasia NGS panel (5 genes)	ACVRL1, ENG, GDF2, RASA1, SMAD4	NGS Del Dup
Hyperphosphatemic familial tumoral calcinosis NGS panel (3 genes)	FGF23, GALNT3, KL	NGS Del Dup
Hyperuricemic nephropathy, familial juvenile NGS panel (3 genes)	REN, SEC61A1, UMOD	Del Dup NGS
Hypotrichosis NGS panel (11 genes)	APCDD1, CDSN, DSG4, HR, KRT25, KRT71, KRT74, LIPH, LPAR6, RPL21, SNRPE	NGS Del Dup
Ichthyosis NGS panel (32 genes)	ABCA12, ALOX12B, ALOXE3, CASP14, CAST, CDSN, CERS3, CHST8, CSTA, CYP4F22, FLG, FLG2, GJA1, GJB3, GJB4, KDSR, KRT1, KRT10, KRT2, KRT83, LIPN, LOR, MBTPS2, NIPAL4, PNPLA1, POMP, SERPINB8, ST14, STS, SULT2B1, TGM1, TGM5	Del Dup NGS
Insulin-like growth factor I deficiency and Insulin-like growth factor I, resistance to NGS panel (2 genes)	IGF1, IGF1R	Del Dup NGS
Joubert syndrome and related disorders NGS panel (37 genes)	AHI1, ARL13B, ARMC9, B9D1, B9D2, C2CD3, CC2D2A, CEP104, CEP120, CEP290, CEP41, CPLANE1 (C5orf42), CSPP1, INPP5E, KIAA0556, KIAA0586, KIF14, KIF7, MKS1, NPHP1, NPHP3, OFD1, PDE6D, PIBF1, RPGRIP1L, SUFU, TCTN1, TCTN2, TCTN3, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B, ZNF423	Del Dup NGS
Kabuki syndrome NGS panel (5 genes)	HNRNPK, KDM6A, KMT2D, RAP1A, RAP1B	Del Dup NGS
Kenny-Caffey syndrome NGS panel (2 genes)	FAM111A, TBCE	Del Dup NGS
Keratoconus and related disorders NGS panel (4 genes)	MIR184, PRDM5, VSX1, ZNF469	Del Dup NGS
Klippel-Feil syndrome NGS panel (5 genes)	GDF3, GDF6, MEOX1, MYO18B, RIPPLY2	NGS Del Dup
Leber congenital amaurosis and related disorders NGS panel (32 genes)	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 contracture syndrome and related disorders NGS Panel (22 genes)	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 (35 genes)	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
Lissencephaly and related disorders NGS panel (42 genes)	ACTB, ACTG1, ADGRG1, ARX, ATP6V0A2, B3GALNT2, B4GAT1, CDK5, DAG1, DCX, DYNC1H1, FKRP, FKTN, GMPPB, ISPD, KATNB1, KIF2A, KIF5C, LAMA2, LAMB1, LARGE1, NDE1, PAFAH1B1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, RELN, RXYLT1, SNAP29, SRD5A3, TMTC3, TUBA1A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBG1, VLDLR, WDR62	NGS Del Dup
Lissencephaly core NGS panel (10 genes)	ARX, CDK5, DCX, KATNB1, LAMB1, NDE1, PAFAH1B1, RELN, TMTC3, TUBA1A	Del Dup NGS
Loeys-Dietz syndrome core NGS panel (2 genes)	TGFBR1, TGFBR2	Del Dup NGS
Loeys-Dietz syndrome NGS panel (5 genes)	SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2	Del Dup NGS
Long QT syndrome NGS panel (19 genes)	AKAP9, ANK2, CACNA1C, CALM1, CALM2, CALM3, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, NOS1AP, RYR2, SCN4B, SCN5A, SNTA1, TRDN	NGS Del Dup
Marfan syndrome and Loeys-Dietz syndrome core NGS panel (3 genes)	FBN1, TGFBR1, TGFBR2	Del Dup NGS
Marfan syndrome and Loeys-Dietz syndrome NGS panel (6 genes)	FBN1, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2	NGS Del Dup
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel (28 genes)	ACTA2, BGN, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA, FOXE3, LOX, LTBP3, MAT2A, MED12, MFAP5, MYH11, MYLK, NOTCH1, PRKG1, SKI, SLC2A10, SMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2	NGS Del Dup
Marfan syndrome, type I / II NGS panel (2 genes)	FBN1, TGFBR2	Del Dup NGS
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus NGS panel (3 genes)	AKT3, CCND2, PIK3R2	Del Dup NGS
Meier-Gorlin syndrome NGS panel (8 genes)	CDC45, CDC6, CDT1, GMNN, MCM5, ORC1, ORC4, ORC6	Del Dup NGS
Metaphyseal anadysplasia NGS panel (2 genes)	MMP13, MMP9	NGS Del Dup
Microcephalic primordial dwarfism NGS panel (21 genes)	ATR, ATRIP, CDC45, CDC6, CDT1, CENPJ, CEP152, CEP63, DNA2, DONSON, GMNN, LIG4, NIN, ORC1, ORC4, ORC6, PCNT, RBBP8, RNU4ATAC, TRAIP, XRCC4	Del Dup NGS
Mucopolysaccharidosis NGS panel (14 genes)	ARSB, GALNS, GLB1, GNPTAB, GNPTG, GNS, GUSB, HGSNAT, HYAL1, IDS, IDUA, MCOLN1, NAGLU, SGSH	Del Dup NGS
Multiple epiphyseal dysplasia (MED) NGS panel (8 genes)	CANT1, COL2A1, COL9A1, COL9A2, COL9A3, COMP, MATN3, SLC26A2	NGS Del Dup
Multiple exostoses NGS panel (2 genes)	EXT1, EXT2	NGS Del Dup
Multiple pterygium syndrome, lethal type NGS panel (3 genes)	CHRNA1, CHRND, CHRNG	Del Dup NGS
Myofibrillar myopathy and related disorders NGS panel (11 genes)	ACTA1, BAG3, CRYAB, DES, DNAJB6, FHL1, FLNC, KY, LDB3, MYOT, PYROXD1	NGS Del Dup
Nephrolithiasis and related disorders NGS panel (31 genes)	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
Nephronophthisis and related disorders NGS panel (29 genes)	AHI1, ANKS6, CC2D2A, CEP164, CEP290, CEP41, CEP83, DCDC2, FAN1, GLIS2, INVS, IQCB1, MAPKBP1, NEK8, NPHP1, NPHP3, NPHP4, OFD1, PKHD1, RPGRIP1L, SDCCAG8, TMEM138, TMEM216, TMEM67, TRAF3IP1, TTC21B, WDR19, XPNPEP3, ZNF423	NGS Del Dup
Nephrotic syndrome and related disorders NGS panel (42 genes)	ACTN4, ANLN, ARHGAP24, ARHGDIA, CD2AP, COL4A3, COL4A4, COL4A5, COL4A6, COQ2, COQ6, COQ8B, CRB2, CUBN, DGKE, EMP2, FN1, INF2, ITGA3, ITGB4, KANK2, LAMB2, LMX1B, MAGI2, MEFV, MYO1E, NPHS1, NPHS2, NUP107, NUP205, NUP93, PAX2, PDSS2, PLCE1, PTPRO, SCARB2, SGPL1, SMARCAL1, TRPC6, TTC21B, WDR73, WT1	NGS Del Dup
Neu-Laxova syndrome NGS panel (2 genes)	PHGDH, PSAT1	Del Dup NGS
Neurofibromatosis and related disorders NGS panel (6 genes)	MLH1, MSH2, MSH6, NF1, NF2, SPRED1	Del Dup NGS
Noonan spectrum disorder NGS panel (25 genes)	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	NGS Del Dup
Noonan syndrome core NGS panel (14 genes)	BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RIT1, SHOC2, SOS1, SOS2	NGS Del Dup
Oligodontia - Selective tooth agenesis NGS panel (9 genes)	AXIN2, EDA, LRP6, LTBP3, MSX1, PAX9, PTH1R, WNT10A, WNT10B	NGS Del Dup
Omodysplasia NGS panel (2 genes)	FZD2, GPC6	Del Dup NGS
Opitz GBBB syndrome NGS panel (2 genes)	MID1, SPECC1L	Del Dup NGS
Osteogenesis imperfecta COL1A1 & COL1A2 NGS panel (2 genes)	COL1A1, COL1A2	Del Dup NGS
Osteogenesis imperfecta core NGS panel (3 genes)	COL1A1, COL1A2, IFITM5	Del Dup NGS
Osteogenesis imperfecta NGS panel - Dominant (7 genes)	ALPL, ANO5, COL1A1, COL1A2, IFITM5, P4HB, PLS3	NGS Del Dup
Osteogenesis imperfecta NGS panel - Dominant & Recessive (25 genes)	ALPL, ANO5, BMP1, COL1A1, COL1A2, CREB3L1, CRTAP, FKBP10, IFITM5, LRP5, MBTPS2, P3H1, P4HB, PLOD2, PLS3, PPIB, SEC24D, SERPINF1, SERPINH1, SP7, SPARC, TAPT1, TMEM38B, WNT1, XYLT2	NGS Del Dup
Osteogenesis imperfecta NGS panel - Recessive (20 genes)	ALPL, BMP1, CREB3L1, CRTAP, FKBP10, LRP5, MBTPS2, P3H1, PLOD2, PLS3, PPIB, SEC24D, SERPINF1, SERPINH1, SP7, SPARC, TAPT1, TMEM38B, WNT1, XYLT2	NGS Del Dup
Osteopetrosis and Dense bone dysplasia NGS panel (28 genes)	AMER1, ANKH, CA2, CLCN7, COL1A1, CTSK, DLX3, FAM20C, FERMT3, GJA1, HPGD, LEMD3, LRP4, LRP5, MTAP, OSTM1, PLEKHM1, PTDSS1, SLCO2A1, SNX10, SOST, TBXAS1, TCIRG1, TGFB1, TNFRSF11A, TNFRSF11B, TNFSF11, TYROBP	Del Dup NGS
Osteopetrosis core NGS panel (3 genes)	CLCN7, OSTM1, TCIRG1	Del Dup NGS
Osteopetrosis NGS panel (14 genes)	AMER1, CA2, CLCN7, CTSK, FAM20C, FERMT3, LEMD3, LRP5, OSTM1, PLEKHM1, SNX10, TCIRG1, TNFRSF11A, TNFSF11	NGS Del Dup
Overgrowth syndrome NGS panel (11 genes)	DNMT3A, EED, EZH2, FBN1, GPC3, NFIX, NSD1, OFD1, PDGFRB, PIGA, SETD2	NGS Del Dup
Paget disease of bone and related disorders NGS panel (7 genes)	HNRNPA1, HNRNPA2B1, SQSTM1, TNFRSF11A, TNFRSF11B, VCP, ZNF687	NGS Del Dup
Peeling skin syndrome NGS panel (7 genes)	CAST, CDSN, CHST8, CSTA, FLG2, SERPINB8, TGM5	NGS Del Dup
Pfeiffer syndrome	FGFR1, FGFR2	Sanger
Platelet bleeding disorders NGS panel (34 genes)	ACTN1, ANO6, AP3B1, BLOC1S3, BLOC1S6, CD36, DTNBP1, GBA, GFI1B, GP1BA, GP1BB, GP6, GP9, HPS1, HPS3, HPS4, HPS5, HPS6, ITGA2B, ITGB3, LYST, MYH9, NBEAL2, P2RY12, PLAU, PRKACG, RASGRP2, SLFN14, SMPD1, TBXA2R, TBXAS1, VWF, WAS, WIPF1	NGS Del Dup
Polycystic kidney disease and related disorders NGS panel (22 genes)	ALG9, ANKS6, ATP6V0A4, BICC1, GANAB, GLIS3, HNF1B, INVS, LRP5, MUC1, NOTCH2, NPHP3, OFD1, PKD1, PKD2, PKHD1, SEC61A1, TMEM231, TSC1, TSC2, UMOD, ZNF423	NGS Del Dup
Polycystic liver disease NGS panel (7 genes)	GANAB, LRP5, PKD1, PKD2, PKHD1, PRKCSH, SEC63	Del Dup NGS
Popliteal pterygium syndrome NGS panel (2 genes)	IRF6, RIPK4	NGS Del Dup
Porencephaly NGS panel (2 genes)	COL4A1, COL4A2	Del Dup NGS
Progeroid syndromes and related disorders NGS panel (21 genes)	AGPAT2, ALDH18A1, B3GALT6, B4GALT7, BANF1, BSCL2, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, FBN1, LMNA, PDGFRB, POLD1, PYCR1, RECQL4, SLC25A24, WRN, ZMPSTE24	Del Dup NGS
Progressive familial heart block type I NGS panel (2 genes)	SCN5A, TRPM4	Del Dup NGS
Pseudoxanthoma elasticum NGS panel (2 genes)	ABCC6, GGCX	Del Dup NGS
Pulmonary hypertension NGS panel (12 genes)	ACVRL1, BMPR1B, BMPR2, CAV1, EIF2AK4, ENG, FOXF1, GDF2, KCNA5, KCNK3, SMAD4, SMAD9	Del Dup NGS
Renal tubular dysgenesis NGS panel (4 genes)	ACE, AGT, AGTR1, REN	Del Dup NGS
Restrictive dermopathy, lethal NGS panel (2 genes)	LMNA, ZMPSTE24	Del Dup NGS
Robinow syndrome NGS panel (6 genes)	DVL1, DVL3, FZD2, NXN, ROR2, WNT5A	NGS Del Dup
Rubinstein-Taybi syndrome NGS panel (2 genes)	CREBBP, EP300	Del Dup NGS
Saethre-Chotzen syndrome	FGFR3, TWIST1	Sanger Del Dup NGS
Short QT syndrome NGS panel (6 genes)	CACNA1C, CACNA2D1, CACNB2, KCNH2, KCNJ2, KCNQ1	Del Dup NGS
Short stature with endocrinopathy NGS panel (14 genes)	BTK, GH1, GHR, GHRHR, GHSR, HESX1, IGF1, IGF1R, LHX3, LHX4, OTX2, POU1F1, PROP1, SOX3	NGS Del Dup
Skeletal ciliopathy NGS panel (24 genes)	C21orf2, C2CD3, CEP120, DYNC2H1, DYNC2LI1, EVC, EVC2, ICK, IFT122, IFT140, IFT172, IFT43, IFT52, IFT80, IFT81, KIAA0586, KIAA0753, NEK1, TCTEX1D2, TTC21B, WDR19, WDR34, WDR35, WDR60	Del Dup NGS
Skeletal dysplasia and skeletal ciliopathy NGS panel (53 genes)	ALPL, ARSE, C21orf2, C2CD3, CEP120, COL10A1, COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, DDR2, DYNC2H1, DYNC2LI1, EBP, EVC, EVC2, FGFR3, FLNB, HSPG2, ICK, IFT122, IFT140, IFT172, IFT43, IFT52, IFT80, IFT81, INPPL1, KIAA0586, KIAA0753, LBR, LIFR, MMP13, MMP9, NEK1, NKX3-2, NSDHL, PEX7, PTH1R, RMRP, SBDS, SLC26A2, SLC35D1, SOX9, TCTEX1D2, TRIP11, TRPV4, TTC21B, WDR19, WDR34, WDR35, WDR60	Del Dup NGS
Skeletal dysplasia core & extended NGS panel (29 genes)	ALPL, ARSE, COL10A1, COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, DDR2, EBP, FGFR3, FLNB, HSPG2, INPPL1, LBR, LIFR, MMP13, MMP9, NKX3-2, NSDHL, PEX7, PTH1R, RMRP, SBDS, SLC26A2, SLC35D1, SOX9, TRIP11, TRPV4	NGS Del Dup
Skeletal dysplasia core NGS panel (10 genes)	ALPL, COL1A1, COL1A2, COL2A1, FGFR3, INPPL1, NKX3-2, SLC26A2, SOX9, TRIP11	Del Dup NGS
Skeletal dysplasia extended NGS panel (19 genes)	ARSE, COL10A1, COL11A1, COL11A2, DDR2, EBP, FLNB, HSPG2, LBR, LIFR, MMP13, MMP9, NSDHL, PEX7, PTH1R, RMRP, SBDS, SLC35D1, TRPV4	NGS Del Dup
Smith-McCort dysplasia NGS panel (2 genes)	DYM, RAB33B	Del Dup NGS
Sotos syndrome and related disorders NGS panel (4 genes)	APC2, EZH2, NFIX, NSD1	Del Dup NGS
Spinal Muscular Atrophy Carrier Screening (2 genes)	SMN1, SMN2	Comp
Spondylo-Epi-Metaphyseal dysplasias NGS panel (54 genes)	ACAN, ACP5, B3GALT6, B3GAT3, BGN, C21orf2, CANT1, CHST3, COL10A1, COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, COMP, DDR2, DYM, EIF2AK3, FGFR3, FLNB, FN1, GPX4, HSPG2, IDUA, 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
Spondylocostal dysostosis NGS panel (6 genes)	DLL3, HES7, LFNG, MESP2, RIPPLY2, TBX6	Del Dup NGS
Spondyloepimetaphyseal dysplasia with joint laxity NGS Panel (2 genes)	B3GALT6, KIF22	Del Dup NGS
Stickler syndrome core NGS panel (3 genes)	COL11A1, COL11A2, COL2A1	Del Dup NGS
Stickler syndrome NGS panel (8 genes)	COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, LOXL3, VCAN	Del Dup NGS
Stickler syndrome NGS panel - Recessive (3 genes)	COL9A1, COL9A2, COL9A3	Del Dup NGS
Three M syndrome NGS panel (3 genes)	CCDC8, CUL7, OBSL1	NGS Del Dup
Thrombocytopenia NGS Panel (28 genes)	ADAMTS13, ANKRD26, AP3B1, CYCS, ETV6, FLI1, FYB, GATA1, GBA, HOXA11, ITGA2B, ITGB3, LYST, MASTL, MECOM, MPL, MYH9, NBEAL2, PRKACG, RBM8A, RUNX1, SLFN14, SMPD1, SRC, TBXAS1, TUBB1, WAS, WIPF1	NGS Del Dup
Treacher Collins syndrome and related disorders NGS panel (9 genes)	DHODH, EDNRA, EFTUD2, POLR1A, POLR1C, POLR1D, SF3B4, TCOF1, TXNL4A	NGS Del Dup
Treacher Collins syndrome core NGS panel (3 genes)	POLR1C, POLR1D, TCOF1	Del Dup NGS
Trichothiodystrophy NGS panel (6 genes)	ERCC2, ERCC3, GTF2E2, GTF2H5, MPLKIP, RNF113A	Del Dup NGS
Tuberous sclerosis NGS panel (2 genes)	TSC1, TSC2	Del Dup NGS
Van der Woude syndrome NGS panel (2 genes)	GRHL3, IRF6	Del Dup NGS
Vascular malformations NGS panel (19 genes)	ACVRL1, BMPR2, CAV1, CCM2, EIF2AK4, ELMO2, ENG, FOXF1, GATA2, GDF2, GLMN, KCNK3, KRIT1, PDCD10, PTEN, RASA1, SMAD4, SMAD9, TEK	Del Dup NGS
Vitreoretinopathy NGS panel (19 genes)	BEST1, CAPN5, COL11A1, COL11A2, COL18A1, COL2A1, COL9A1, COL9A2, COL9A3, FZD4, KCNJ13, KIF11, LRP5, NDP, NR2E3, RS1, TSPAN12, VCAN, ZNF408	Del Dup NGS
Waardenburg syndrome NGS panel (7 genes)	EDN3, EDNRB, MITF, PAX3, SNAI2, SOX10, TYR	NGS Del Dup
Weaver and Cohen-Gibson syndrome NGS panel (2 genes)	EED, EZH2	Del Dup NGS
Weill-Marchesani syndrome NGS panel (4 genes)	ADAMTS10, ADAMTS17, FBN1, LTBP2	NGS Del Dup
Xeroderma pigmentosum NGS panel (9 genes)	DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA, XPC	NGS Del Dup
Zimmermann-Laband syndrome NGS panel (2 genes)	ATP6V1B2, KCNH1	Del Dup NGS