Test Catalogue by Disease Group | Connective Tissue Gene Tests

Browse CTGT's test catalogue, including NGS panels, by disease group.

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Abnormal Mineralization Disorders
Abnormal mineralization disorders NGS panel	ALPL, ANKH, CASR, CLCN5, CYP27B1, DMP1, ENPP1, FAH, FGF23, OCRL, PHEX, SLC34A1, SLC34A3, SLC9A3R1, VDR	Del Dup NGS
Chondrocalcinosis 2	ANKH	Del Dup NGS
Hyperphosphatemic familial tumoral calcinosis - FGF23	FGF23	Sanger Del Dup NGS
Hyperphosphatemic familial tumoral calcinosis - GALNT3	GALNT3	Sanger Del Dup NGS
Hyperphosphatemic familial tumoral calcinosis NGS panel	FGF23, GALNT3, KL	Del Dup NGS
Hypophosphatasia, infantile, childhood & adult types	ALPL	Del Dup NGS Sanger
Rickets, hypophosphatemic, autosomal dominant	FGF23	Del Dup NGS Sanger
Rickets, hypophosphatemic, autosomal recessive, 1	DMP1	Del Dup NGS
Rickets, hypophosphatemic, autosomal recessive, 2	ENPP1	Del Dup NGS
Rickets, hypophosphatemic, X-linked dominant	PHEX	Del Dup NGS
Rickets, vitamin D-dependent type I	CYP27B1	Del Dup NGS

Cardiovascular Disorders
Adams-Oliver Syndrome 1	ARHGAP31	Del Dup NGS
Adams-Oliver syndrome 2	DOCK6	Del Dup NGS
Adams-Oliver syndrome 3	RBPJ	Del Dup NGS
Adams-Oliver syndrome 4	EOGT	Del Dup NGS
Adams-Oliver syndrome 5	NOTCH1	Del Dup NGS
Adams-Oliver syndrome 6	DLL4	Del Dup NGS
Adams-Oliver syndrome NGS panel	ARHGAP31, DLL4, DOCK6, EOGT, NOTCH1, RBPJ	NGS Del Dup
Alagille syndrome 1	JAG1	Del Dup NGS
Alagille syndrome 2	NOTCH2	Del Dup NGS
Alagille syndrome NGS panel	ATP8B1, JAG1, NOTCH2	Del Dup NGS
Alagille syndrome, ATP8B1 related	ATP8B1	NGS Del Dup
Aortic valve disease 1	NOTCH1	Del Dup NGS
Arterial calcification, generalized, of infancy NGS panel	ABCC6, ENPP1	Del Dup NGS
Arterial calcification, generalized, of infancy, 1	ENPP1	NGS Del Dup
Arterial calcification, generalized, of infancy, 2	ABCC6	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	NGS Del Dup
Brugada syndrome and related disorders NGS panel	ABCC9, ANK2, CACNA1C, CACNA2D1, CACNB2, CAV3, FGF12, GPD1L, HCN4, KCND2, KCND3, KCNE3, KCNE5, KCNH2, KCNJ8, PKP2, RANGRF, SCN10A, SCN1B, SCN2B, SCN3B, SCN5A, SEMA3A, SLMAP, TRPM4	NGS Del Dup
Cantu syndrome	ABCC9	Del Dup NGS
Cantu syndrome NGS panel	ABCC9, KCNJ8	Del Dup NGS
Cantu syndrome, KCNJ8 related	KCNJ8	Sanger 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	NGS Del Dup
Catecholaminergic polymorphic ventricular tachycardia NGS panel	ANK2, CALM1, CALM2, CALM3, CASQ2, KCNJ2, RYR2, TECRL, TRDN	NGS Del Dup
Catel-Manzke syndrome	TGDS	Del Dup NGS
CHARGE syndrome	CHD7	Del Dup NGS
Congenital heart disease NGS panel	CHD7, ELN, GATA4, GATA6, GDF1, JAG1, NKX2-5, NKX2-6, NOTCH1, NOTCH2, NR2F2, TBX1, TBX20, TBX5, ZIC3	Del Dup NGS
Geleophysic dysplasia 2	FBN1	Sanger
Long QT syndrome NGS panel	AKAP9, ANK2, CACNA1C, CALM1, CALM2, CALM3, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, NOS1AP, RYR2, SCN4B, SCN5A, SNTA1, TRDN	NGS Del Dup
Mitral valve prolapse 2	DCHS1	Del Dup NGS
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects	B3GAT3	Del Dup NGS
NKX2-5 related heart malformations	NKX2-5	NGS Sanger Del Dup
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	NGS Del Dup
Noonan syndrome core NGS panel	BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RIT1, SHOC2, SOS1, SOS2	NGS Del Dup
Oculodentodigital dysplasia	GJA1	Sanger Del Dup NGS
Progressive familial heart block type I NGS panel	SCN5A, TRPM4	Del Dup NGS
Pulmonary hypertension NGS panel	ACVRL1, BMPR1B, BMPR2, CAV1, EIF2AK4, ENG, FOXF1, KCNK3, SMAD9	NGS Del Dup
Pulmonary hypertension, primary, 1	BMPR2	Del Dup NGS
Pulmonary hypertension, primary, 2	SMAD9	Sanger Del Dup NGS
Pulmonary hypertension, primary, 3	CAV1	Del Dup NGS Sanger
Pulmonary hypertension, primary, 4	KCNK3	Sanger Del Dup NGS
Pulmonary venoocclusive disease 1, autosomal dominant	BMPR2	Del Dup NGS
Pulmonary venoocclusive disease 2, autosomal recessive	EIF2AK4	Del Dup NGS
Short QT syndrome NGS panel	CACNA1C, CACNA2D1, CACNB2, KCNH2, KCNJ2, KCNQ1	Del Dup NGS
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies	BMP2	Del Dup NGS
Supravalvular aortic stenosis	ELN	NGS Del Dup

Craniosynostosis and Craniofacial Disorders
Acrofacial dysostosis 1, Nager type	SF3B4	Sanger Del Dup NGS
Acromelic frontonasal dysostosis	ZSWIM6	Del Dup NGS
Apert syndrome	FGFR2	Sanger
Auriculocondylar syndrome NGS panel	EDN1, GNAI3, PLCB4	Del Dup NGS
Beare-Stevenson cutis gyrata syndrome	FGFR2	Sanger
Bent bone dysplasia syndrome	FGFR2	NGS Del Dup
Blepharocheilodontic syndrome NGS panel	CDH1, CTNND1	Del Dup NGS
Branchiooculofacial syndrome	TFAP2A	Del Dup NGS
Catel-Manzke syndrome	TGDS	NGS Del Dup
CHARGE syndrome	CHD7	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
Cohen syndrome	VPS13B	Del Dup NGS
Cole-Carpenter syndrome 1	P4HB	Del Dup NGS
Cole-Carpenter syndrome 2	SEC24D	Del Dup NGS
Cornelia de Lange syndrome 1	NIPBL	Del Dup NGS
Cornelia de Lange syndrome and related disorders NGS panel	AFF4, ANKRD11, HDAC8, KMT2A, NIPBL, RAD21, SMC1A, SMC3	NGS Del Dup
Cranioectodermal dysplasia 2	WDR35	Del Dup NGS
Cranioectodermal dysplasia 4	WDR19	Del Dup NGS
Craniofrontonasal syndrome	EFNB1	Sanger Del Dup NGS
Craniosynostosis core NGS panel	FGFR1, FGFR2, FGFR3, TCF12, TWIST1	NGS Del Dup
Craniosynostosis NGS panel	CDC45, CYP26B1, EFNB1, ERF, FGFR1, FGFR2, FGFR3, FREM1, GLI3, IFT122, IFT43, IL11RA, MEGF8, MSX2, POR, RAB23, RECQL4, SKI, TCF12, TGFBR1, TGFBR2, TWIST1, WDR19, WDR35, ZIC1	Del Dup NGS
Craniosynostosis, type 1	TWIST1	Sanger Del Dup NGS
Crouzon syndrome	FGFR2	Sanger
Crouzon syndrome with acanthosis nigricans	FGFR3	Sanger
FGFR1, FGFR2 and FGFR3 related craniosynostosis panel	FGFR1, FGFR2, FGFR3	Sanger
FGFR1, FGFR2, FGFR3 & TWIST1 related craniosynostosis panel	FGFR1, FGFR2, FGFR3, TWIST1	Sanger
FGFR2 related craniosynostosis	FGFR2	Del Dup NGS
Frontonasal dysplasia 1	ALX3	Sanger Del Dup NGS
Frontonasal dysplasia 2	ALX4	Sanger Del Dup NGS
Frontonasal dysplasia 3	ALX1	Sanger Del Dup NGS
Frontonasal dysplasia and Craniofrontonasal syndrome NGS panel	ALX1, ALX3, ALX4, EFNB1, SIX2	NGS Del Dup
Frontonasal dysplasia, SIX2 related	SIX2	Sanger Del Dup NGS
Glass syndrome	SATB2	Del Dup NGS
Greig cephalopolysyndactyly syndrome	GLI3	Del Dup NGS
Jackson-Weiss syndrome	FGFR2	Sanger
KBG syndrome	ANKRD11	Del Dup NGS
Lateral meningocele syndrome	NOTCH3	Del Dup NGS
Loeys-Dietz syndrome 1	TGFBR1	NGS Sanger Del Dup
Loeys-Dietz syndrome 2	TGFBR2	Sanger Del Dup NGS
Loeys-Dietz Syndrome 5	TGFB3	Sanger Del Dup NGS
Loeys-Dietz syndrome core NGS panel	TGFBR1, TGFBR2	Del Dup NGS
Loeys-Dietz syndrome NGS panel	SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2	NGS Del Dup
Mandibulofacial dysostosis, Guion-Almeida type	EFTUD2	Del Dup NGS
Marshall-Smith syndrome	NFIX	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	NGS Del Dup
Mowat-Wilson syndrome	ZEB2	Del Dup NGS
Muenke syndrome	FGFR3	Sanger
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects	B3GAT3	Del Dup NGS
Neu-Laxova syndrome 1	PHGDH	Del Dup NGS
Neu-Laxova syndrome 2	PSAT1	NGS Del Dup
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
Noonan syndrome core NGS panel	BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RIT1, SHOC2, SOS1, SOS2	NGS Del Dup
Oculodentodigital dysplasia	GJA1	Sanger Del Dup NGS
Opitz GBBB syndrome NGS panel	MID1, SPECC1L	Del Dup NGS
Orofaciodigital syndrome I	OFD1	Del Dup NGS
Overgrowth syndrome NGS panel	EED, EZH2, GPC3, NFIX, NSD1, OFD1, PIGA	Del Dup NGS
Pfeiffer syndrome	FGFR1, FGFR2	Sanger
Phosphoglycerate dehydrogenase deficiency	PHGDH	Del Dup NGS
Phosphoserine aminotransferase deficiency	PSAT1	Del Dup NGS
Popliteal pterygium syndrome	IRF6	Del Dup NGS
Popliteal pterygium syndrome, lethal type	RIPK4	Del Dup NGS
Postaxial acrofacial dysostosis	DHODH	NGS Del Dup
Roberts syndrome & SC phocomelia syndrome	ESCO2	Del Dup NGS
Rubinstein-Taybi syndrome 1	CREBBP	Del Dup NGS
Rubinstein-Taybi syndrome 2	EP300	Del Dup NGS
Rubinstein-Taybi syndrome NGS panel	CREBBP, EP300	Del Dup NGS
Saethre-Chotzen syndrome	FGFR3, TWIST1	NGS Sanger Del Dup
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies	BMP2	Del Dup NGS
Shprintzen-Goldberg craniosynostosis syndrome	SKI	Del Dup NGS
Simpson-Golabi-Behmel syndrome	GPC3	Del Dup NGS
Simpson-Golabi-Behmel syndrome, PIGA related	PIGA	Sanger Del Dup NGS
Simpson-Golabi-Behmel syndrome, type 2	OFD1	Del Dup NGS
Snyder-Robinson mental retardation syndrome	SMS	Del Dup NGS
Sotos syndrome 1	NSD1	Del Dup NGS
Sotos syndrome 2	NFIX	Del Dup NGS
Stickler syndrome core NGS panel	COL11A1, COL11A2, COL2A1	NGS Del Dup
Stickler syndrome NGS panel	COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, LOXL3, VCAN	Del Dup NGS
Stickler syndrome NGS panel - Recessive	COL9A1, COL9A2, COL9A3	Del Dup NGS
Stickler syndrome, type I	COL2A1	Del Dup NGS
Stickler syndrome, type II	COL11A1	Del Dup NGS
Stickler syndrome, type III	COL11A2	Del Dup NGS
Treacher Collins syndrome 1	TCOF1	NGS Del Dup
Treacher Collins syndrome 2	POLR1D	Sanger Del Dup NGS
Treacher Collins syndrome 3	POLR1C	Sanger Del Dup NGS
Treacher Collins syndrome and related disorders NGS panel	DHODH, EFTUD2, POLR1A, POLR1C, POLR1D, SF3B4, TCOF1, TXNL4A	NGS Del Dup
Treacher Collins syndrome core NGS panel	POLR1C, POLR1D, TCOF1	NGS Del Dup
Trichorhinophalangeal syndrome, type I / III	TRPS1	Del Dup NGS
Van der Woude syndrome 1	IRF6	Del Dup NGS
Van der Woude syndrome 2	GRHL3	NGS Del Dup
Van der Woude syndrome NGS panel	GRHL3, IRF6	Del Dup NGS
Van Maldergem syndrome 1	DCHS1	Del Dup NGS
Weaver and Cohen-Gibson syndrome NGS panel	EED, EZH2	NGS Del Dup
Weaver syndrome	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

Ehlers-Danlos Syndrome and Related Disorders
Brittle cornea syndrome 1	ZNF469	NGS Del Dup
Brittle cornea syndrome 2	PRDM5	Del Dup NGS
Brittle cornea syndrome NGS panel	PRDM5, ZNF469	Del Dup NGS
Ehlers-Danlos syndrome core NGS panel	COL3A1, COL5A1, COL5A2	Del Dup NGS
Ehlers-Danlos syndrome NGS panel - Dominant	C1R, C1S, COL12A1, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, FLNA	NGS Del Dup
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive	ADAMTS2, 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	ADAMTS2, ATP7A, B3GALT6, B4GALT7, CHST14, COL12A1, DSE, FKBP14, PLOD1, PRDM5, SLC39A13, ZNF469	Del Dup NGS
Ehlers-Danlos syndrome, classic type NGS panel	COL5A1, COL5A2	Del Dup NGS
Ehlers-Danlos syndrome, musculocontractural type, 1	CHST14	Sanger Del Dup NGS
Ehlers-Danlos syndrome, periodontal type NGS panel	C1R, C1S	Del Dup NGS
Ehlers-Danlos syndrome, spondylodysplastic type NGS panel	B3GALT6, B4GALT7, SLC39A13	Del Dup NGS
Ehlers-Danlos syndrome, spondylodysplastic type, 1	B4GALT7	Del Dup NGS
Ehlers-Danlos syndrome, spondylodysplastic type, 2	B3GALT6	Del Dup NGS
Ehlers-Danlos syndrome, spondylodysplastic type, 3	SLC39A13	Del Dup NGS
Ehlers-Danlos syndrome, type I	COL5A1	Del Dup NGS
Ehlers-Danlos syndrome, type II	COL5A2	Del Dup NGS
Ehlers-Danlos syndrome, type IV	COL3A1	Del Dup NGS
Ehlers-Danlos syndrome, type VI	PLOD1	Del Dup NGS
Ehlers-Danlos syndrome, type VIIA / VIIB	COL1A1, COL1A2	Del Dup NGS
Occipital horn syndrome	ATP7A	Del Dup NGS

Eye Disorders
Alagille syndrome 1	JAG1	Del Dup NGS
Alagille syndrome 2	NOTCH2	Del Dup NGS
Alagille syndrome NGS panel	ATP8B1, JAG1, NOTCH2	Del Dup NGS
Alagille syndrome, ATP8B1 related	ATP8B1	Del Dup NGS
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps	COL4A1	Del Dup NGS
Axial spondylometaphyseal dysplasia NGS panel	C21orf2, NEK1	Del Dup NGS
Brain small vessel disease with or without ocular anomalies	COL4A1	NGS Del Dup
Branchiooculofacial syndrome	TFAP2A	Del Dup NGS
Brittle cornea syndrome 1	ZNF469	NGS Del Dup
Brittle cornea syndrome 2	PRDM5	Del Dup NGS
Brittle cornea syndrome NGS panel	PRDM5, ZNF469	Del Dup NGS
Ectopia lentis NGS panel	ADAMTSL4, FBN1	NGS Del Dup
Ectopia lentis, isolated, autosomal dominant	FBN1	Del Dup NGS
Ectopia lentis, isolated, autosomal recessive	ADAMTSL4	Del Dup NGS
Exudative vitreoretinopathy 1	FZD4	Sanger Del Dup NGS
Exudative vitreoretinopathy 2, X-linked	NDP	Sanger Del Dup NGS
Exudative vitreoretinopathy 4	LRP5	Del Dup NGS
Exudative vitreoretinopathy 5	TSPAN12	NGS Del Dup
Exudative vitreoretinopathy NGS panel	CAPN5, FZD4, KIF11, LRP5, NDP, TSPAN12, ZNF408	NGS Del Dup
Focal dermal hypoplasia	PORCN	Del Dup NGS
Frontonasal dysplasia 1	ALX3	Sanger Del Dup NGS
Frontonasal dysplasia 2	ALX4	Sanger Del Dup NGS
Frontonasal dysplasia 3	ALX1	Del Dup NGS Sanger
Frontonasal dysplasia and Craniofrontonasal syndrome NGS panel	ALX1, ALX3, ALX4, EFNB1, SIX2	NGS Del Dup
Homocystinuria	CBS	Del Dup NGS
Knobloch syndrome 1	COL18A1	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
Marfan syndrome, type I	FBN1	Del Dup NGS
Marshall syndrome	COL11A1	Del Dup NGS
Norrie disease	NDP	Sanger Del Dup NGS
Oculodentodigital dysplasia	GJA1	Sanger Del Dup NGS
Ohdo syndrome, SBBYS variant	KAT6B	Del Dup NGS
Osteoporosis-pseudoglioma syndrome	LRP5	Del Dup NGS
Roberts syndrome & SC phocomelia syndrome	ESCO2	Del Dup NGS
Spondylometaphyseal dysplasia with cone-rod dystrophy	PCYT1A	Sanger Del Dup NGS
Spondyloocular syndrome	XYLT2	Del Dup NGS
Stickler syndrome core NGS panel	COL11A1, COL11A2, COL2A1	Del Dup NGS
Stickler syndrome NGS panel	COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, LOXL3, VCAN	NGS Del Dup
Stickler syndrome NGS panel - Recessive	COL9A1, COL9A2, COL9A3	Del Dup NGS
Stickler syndrome, type I	COL2A1	Del Dup NGS
Stickler syndrome, type II	COL11A1	Del Dup NGS
Vitreoretinopathy NGS panel	BEST1, CAPN5, COL11A1, COL11A2, COL18A1, COL2A1, COL9A1, COL9A2, COL9A3, FZD4, KCNJ13, KIF11, LRP5, NDP, NR2E3, RS1, TSPAN12, VCAN, ZNF408	NGS Del Dup
Wagner vitreoretinopathy	VCAN	Del Dup NGS
Weill-Marchesani syndrome 1	ADAMTS10	Del Dup NGS
Weill-Marchesani syndrome 2	FBN1	NGS Del Dup
Weill-Marchesani syndrome 3	LTBP2	Del Dup NGS
Weill-Marchesani syndrome NGS panel	ADAMTS10, ADAMTS17, FBN1, LTBP2	NGS Del Dup
Weill-Marchesani-like syndrome	ADAMTS17	Del Dup NGS

Hearing Disorders
Acrofacial dysostosis 1, Nager type	SF3B4	Sanger Del Dup NGS
Alport syndrome NGS panel	COL4A3, COL4A4, COL4A5, COL4A6	Del Dup NGS
Alport syndrome, X-linked	COL4A5	Del Dup NGS
Klippel-Feil Syndrome 1	GDF6	Del Dup NGS Sanger
Mandibulofacial dysostosis, Guion-Almeida type	EFTUD2	Del Dup NGS
Postaxial acrofacial dysostosis	DHODH	Del Dup NGS
Stickler syndrome core NGS panel	COL11A1, COL11A2, COL2A1	Del Dup NGS
Stickler syndrome NGS panel	COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, LOXL3, VCAN	NGS Del Dup
Stickler syndrome NGS panel - Recessive	COL9A1, COL9A2, COL9A3	NGS Del Dup
Stickler syndrome, type I	COL2A1	Del Dup NGS
Stickler syndrome, type II	COL11A1	Del Dup NGS
Treacher Collins syndrome 1	TCOF1	Del Dup NGS
Treacher Collins syndrome 2	POLR1D	Sanger Del Dup NGS
Treacher Collins syndrome 3	POLR1C	Sanger Del Dup NGS
Waardenburg syndrome NGS panel	EDN3, EDNRB, MITF, PAX3, SNAI2, SOX10, TYR	NGS Del Dup

Hematological Disorders
Atypical hemolytic uremic syndrome susceptibility and related disorders NGS panel	ADAMTS13, C3, CD46, CFB, CFH, CFHR1, CFHR2, CFHR3, CFHR5, CFI, DGKE, MMACHC, THBD	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	NGS Del Dup
Dyskeratosis congenita NGS panel	ACD, CTC1, DKC1, NHP2, NOP10, PARN, RTEL1, TERC, TERT, TINF2, USB1, WRAP53	Del Dup NGS
Neutropenia, severe congenital, X-linked	WAS	Sanger Del Dup NGS
Platelet bleeding disorders NGS panel	ACTN1, ANO6, AP3B1, BLOC1S3, BLOC1S6, CD36, DTNBP1, GFI1B, GP1BA, GP1BB, GP6, GP9, HPS1, HPS3, HPS4, HPS5, HPS6, ITGA2B, ITGB3, LYST, MYH9, NBEAL2, P2RY12, PLAU, PRKACG, RASGRP2, SLFN14, TBXA2R, TBXAS1, VWF, WAS, WIPF1	Del Dup NGS
Thrombocytopenia 1	WAS	NGS Sanger Del Dup
Thrombocytopenia NGS Panel	ADAMTS13, ANKRD26, AP3B1, CYCS, ETV6, FLI1, FYB, GATA1, HOXA11, ITGA2B, ITGB3, LYST, MASTL, MECOM, MPL, MYH9, NBEAL2, PRKACG, RBM8A, RUNX1, SLFN14, SRC, TBXAS1, TUBB1, WAS, WIPF1	NGS Del Dup
Wiskott-Aldrich syndrome	WAS	Sanger Del Dup NGS

Kidney Disorders
Alagille syndrome 1	JAG1	Del Dup NGS
Alagille syndrome 2	NOTCH2	Del Dup NGS
Alagille syndrome NGS panel	ATP8B1, JAG1, NOTCH2	Del Dup NGS
Alagille syndrome, ATP8B1 related	ATP8B1	Del Dup NGS
Alport syndrome NGS panel	COL4A3, COL4A4, COL4A5, COL4A6	Del Dup NGS
Alport syndrome, X-linked	COL4A5	Del Dup NGS
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps	COL4A1	Del Dup NGS
Atypical hemolytic uremic syndrome susceptibility and related disorders NGS panel	ADAMTS13, C3, CD46, CFB, CFH, CFHR1, CFHR2, CFHR3, CFHR5, CFI, DGKE, MMACHC, THBD	NGS Del Dup
Birt-Hogg-Dube syndrome	FLCN	Del Dup NGS
Diaphanospondylodysostosis	BMPER	Del Dup NGS
Hajdu-Cheney syndrome	NOTCH2	Del Dup NGS
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	NGS Del Dup
Nephrotic syndrome and related disorders NGS panel	ACTN4, ANLN, ARHGAP24, ARHGDIA, CD2AP, COQ2, COQ6, COQ8B, CRB2, CUBN, DGKE, EMP2, INF2, ITGA3, ITGB4, LAMB2, LMX1B, MYO1E, NPHS1, NPHS2, NUP107, NUP205, NUP93, PAX2, PDSS2, PLCE1, PTPRO, SCARB2, SMARCAL1, TRPC6, WDR73, WT1	Del Dup NGS
Orofaciodigital syndrome I	OFD1	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	NGS Del Dup
Serpentine fibula-polycystic kidney syndrome	NOTCH2	NGS Del Dup

Limb Hypoplasia - Reduction Defects
Acrofacial dysostosis 1, Nager type	SF3B4	Sanger Del Dup NGS
Acromesomelic dysplasia, Hunter-Thompson type	GDF5	Del Dup NGS
Adams-Oliver Syndrome 1	ARHGAP31	Del Dup NGS
Adams-Oliver syndrome 2	DOCK6	Del Dup NGS
Adams-Oliver syndrome 3	RBPJ	Del Dup NGS
Adams-Oliver syndrome 4	EOGT	NGS Del Dup
Adams-Oliver syndrome 5	NOTCH1	NGS Del Dup
Adams-Oliver syndrome 6	DLL4	Del Dup NGS
Adams-Oliver syndrome NGS panel	ARHGAP31, DLL4, DOCK6, EOGT, NOTCH1, RBPJ	Del Dup NGS
Chondrodysplasia, Grebe type	GDF5	Del Dup NGS
Roberts syndrome & SC phocomelia syndrome	ESCO2	Del Dup NGS
Robinow syndrome NGS panel	DVL1, DVL3, FZD2, NXN, ROR2, WNT5A	NGS Del Dup
Robinow syndrome, autosomal dominant 1	WNT5A	Del Dup NGS Sanger
Robinow syndrome, autosomal dominant 2	DVL1	Del Dup NGS
Robinow syndrome, autosomal recessive	ROR2	Sanger Del Dup NGS
Thrombocytopenia and absent radius syndrome	RBM8A	Sanger 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

Liver Disorders
Alpha-1-antitrypsin deficiency	SERPINA1	Sanger Del Dup
Cholestasis NGS Panel	ABCB11, ABCB4, ATP8B1, TJP2	Del Dup NGS
Cholestasis, benign recurrent intrahepatic, 1	ATP8B1	Del Dup NGS
Cholestasis, benign recurrent intrahepatic, 2	ABCB11	Del Dup NGS
Cholestasis, intrahepatic, of pregnancy, 1	ATP8B1	Del Dup NGS
Cholestasis, intrahepatic, of pregnancy, 3	ABCB4	Del Dup NGS
Cholestasis, progressive familial intrahepatic, 1	ATP8B1	Del Dup NGS
Cholestasis, progressive familial intrahepatic, 2	ABCB11	Del Dup NGS
Cholestasis, progressive familial intrahepatic, 3	ABCB4	NGS Del Dup
Cholestasis, progressive familial intrahepatic, 4	TJP2	Del Dup NGS
Dyskeratosis congenita NGS panel	ACD, CTC1, DKC1, NHP2, NOP10, PARN, RTEL1, TERC, TERT, TINF2, USB1, WRAP53	NGS Del Dup
Lysosomal acid lipase deficiency	LIPA	Sanger Del Dup NGS
Mucopolysaccharidosis NGS panel	ARSB, GALNS, GLB1, GNPTAB, GNPTG, GNS, GUSB, HGSNAT, HYAL1, IDS, IDUA, MCOLN1, NAGLU, SGSH	Del Dup NGS
Polycystic liver disease NGS panel	GANAB, LRP5, PKD1, PKD2, PKHD1, PRKCSH, SEC63	NGS Del Dup
Wolman disease	LIPA	Sanger Del Dup NGS

Lung Diseases
Alpha-1-antitrypsin deficiency	SERPINA1	Sanger Del Dup
Birt-Hogg-Dube syndrome	FLCN	Del Dup NGS
Dyskeratosis congenita NGS panel	ACD, CTC1, DKC1, NHP2, NOP10, PARN, RTEL1, TERC, TERT, TINF2, USB1, WRAP53	Del Dup NGS
Pneumothorax, primary spontaneous	FLCN	Del Dup NGS

Marfan syndrome, Loeys-Dietz syndrome, familial thoracic aortic aneurysms & dissections, and related disorders
Aortic aneurysm, familial thoracic 3	TGFBR2	Sanger Del Dup NGS
Aortic aneurysm, familial thoracic 4	MYH11	NGS Del Dup
Aortic aneurysm, familial thoracic 5	TGFBR1	Sanger Del Dup NGS
Aortic aneurysm, familial thoracic 6	ACTA2	Del Dup NGS Sanger
Aortic aneurysm, familial thoracic 7	MYLK	Del Dup NGS
Aortic aneurysm, familial thoracic 8	PRKG1	Del Dup NGS
Aortic aneurysm, familial thoracic 9	MFAP5	Sanger Del Dup NGS
Aortic valve disease 1	NOTCH1	Del Dup NGS
Arterial tortuosity syndrome	SLC2A10	Sanger Del Dup NGS
Cardiac valvular dysplasia, X-linked	FLNA	Del Dup NGS
Congenital contractural arachnodactyly	FBN2	Del Dup NGS
Ehlers-Danlos syndrome core NGS panel	COL3A1, COL5A1, COL5A2	Del Dup NGS
Ehlers-Danlos syndrome NGS panel - Dominant	C1R, C1S, COL12A1, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, FLNA	NGS Del Dup
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive	ADAMTS2, 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, classic type NGS panel	COL5A1, COL5A2	Del Dup NGS
Ehlers-Danlos syndrome, type I	COL5A1	Del Dup NGS
Ehlers-Danlos syndrome, type II	COL5A2	Del Dup NGS
Ehlers-Danlos syndrome, type IV	COL3A1	Del Dup NGS
Fibrillinopathy NGS panel	CBS, FBN1, FBN2	Del Dup NGS
Homocystinuria	CBS	Del Dup NGS
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	SMAD4	Sanger Del Dup NGS
Loeys-Dietz syndrome 1	TGFBR1	Sanger Del Dup NGS
Loeys-Dietz syndrome 2	TGFBR2	Sanger Del Dup NGS
Loeys-Dietz syndrome 3	SMAD3	NGS Sanger Del Dup
Loeys-Dietz syndrome 4	TGFB2	Sanger Del Dup NGS
Loeys-Dietz Syndrome 5	TGFB3	Sanger Del Dup NGS
Loeys-Dietz syndrome core NGS panel	TGFBR1, TGFBR2	Del Dup NGS
Loeys-Dietz syndrome NGS panel	SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2	Del Dup NGS
Marfan syndrome and Loeys-Dietz syndrome core NGS panel	FBN1, TGFBR1, TGFBR2	Del Dup NGS
Marfan syndrome and Loeys-Dietz syndrome NGS panel	FBN1, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2	NGS Del Dup
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	NGS Del Dup
Marfan syndrome, type I	FBN1	Del Dup NGS
Marfan syndrome, type I / II NGS panel	FBN1, TGFBR2	NGS Del Dup
Marfan syndrome, type II	TGFBR2	Sanger Del Dup NGS
Shprintzen-Goldberg craniosynostosis syndrome	SKI	Del Dup NGS

Metabolic and Endocrine Disorders
Chondrocalcinosis 2	ANKH	Del Dup NGS
Chondrodysplasia punctata and related disorders NGS panel	AGPS, ARSE, EBP, FAR1, GNPAT, LBR, MGP, NSDHL, PEX5, PEX7	NGS Del Dup
Gracile bone dysplasia	FAM111A	Del Dup NGS
Homocystinuria	CBS	Del Dup NGS
Hyperparathyroidism, neonatal severe	CASR	Sanger Del Dup NGS
Hyperphosphatemic familial tumoral calcinosis - FGF23	FGF23	Sanger Del Dup NGS
Hyperphosphatemic familial tumoral calcinosis - GALNT3	GALNT3	Sanger Del Dup NGS
Hyperphosphatemic familial tumoral calcinosis NGS panel	FGF23, GALNT3, KL	Del Dup NGS
Hypocalcemia, autosomal dominant 1	CASR	NGS Sanger Del Dup
Hypocalciuric hypercalcemia, familial, type 1	CASR	Sanger Del Dup NGS
Hypophosphatasia, infantile, childhood & adult types	ALPL	Sanger Del Dup NGS
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1	VCP	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	NGS Del Dup
Kenny-Caffey syndrome NGS panel	FAM111A, TBCE	NGS Del Dup
Kenny-Caffey syndrome, type 1	TBCE	Del Dup NGS
Kenny-Caffey syndrome, type 2	FAM111A	Del Dup NGS
Lysosomal acid lipase deficiency	LIPA	Del Dup NGS Sanger
Menkes disease	ATP7A	Del Dup NGS
Mucopolysaccharidosis NGS panel	ARSB, GALNS, GLB1, GNPTAB, GNPTG, GNS, GUSB, HGSNAT, HYAL1, IDS, IDUA, MCOLN1, NAGLU, SGSH	Del Dup NGS
Paget disease of bone 2	TNFRSF11A	Del Dup NGS
Paget disease of bone 3	SQSTM1	Del Dup NGS
Paget disease of bone 5	TNFRSF11B	Del Dup NGS
Paget disease of bone 6	ZNF687	Del Dup NGS
Paget disease of bone and related disorders NGS panel	HNRNPA1, HNRNPA2B1, SQSTM1, TNFRSF11A, TNFRSF11B, VCP, ZNF687	NGS Del Dup
Rhizomelic chondrodysplasia punctata type 1	PEX7	Sanger Del Dup NGS
Rhizomelic chondrodysplasia punctata, type 2	GNPAT	Del Dup NGS
Rhizomelic chondrodysplasia punctata, type 3	AGPS	Del Dup NGS
Short stature with endocrinopathy NGS panel	BTK, GH1, GHR, GHRHR, GHSR, HESX1, IGF1, IGF1R, LHX3, LHX4, OTX2, POU1F1, PROP1, SOX3	Del Dup NGS
Wilson disease	ATP7B	Del Dup NGS
Wolcott-Rallison syndrome	EIF2AK3	Del Dup NGS
Wolman disease	LIPA	Sanger Del Dup NGS

Neurological and Muscular Disorders
Acromelic frontonasal dysostosis	ZSWIM6	Del Dup NGS
Amyotrophic lateral sclerosis and related disorders NGS panel	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
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps	COL4A1	Del Dup NGS
Bethlem myopathy & Ullrich congenital muscular dystrophy NGS panel	COL12A1, COL6A1, COL6A2, COL6A3	Del Dup NGS
Brain small vessel disease with or without ocular anomalies	COL4A1	Del Dup NGS
Cerebral arteriopathy, with subcortical infarcts and leukoencephalopathy 1	NOTCH3	Del Dup NGS
Cerebrooculofacioskeletal syndrome NGS panel	ERCC1, ERCC2, ERCC5, ERCC6	NGS Del Dup
Charcot-Marie-Tooth disease NGS panel	AARS, AIFM1, 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
Chondrodysplasia punctata and related disorders NGS panel	AGPS, ARSE, EBP, FAR1, GNPAT, LBR, MGP, NSDHL, PEX5, PEX7	NGS Del Dup
Cockayne syndrome NGS panel	ERCC6, ERCC8	Del Dup NGS
Cohen syndrome	VPS13B	Del Dup NGS
Cornelia de Lange syndrome 1	NIPBL	Del Dup NGS
Cornelia de Lange syndrome and related disorders NGS panel	AFF4, ANKRD11, HDAC8, KMT2A, NIPBL, RAD21, SMC1A, SMC3	NGS Del Dup
Distal hereditary motor neuropathy and related disorders NGS panel	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	ANO5, BAG3, CAV3, CRYAB, DES, DNAJB6, DNM2, DYSF, FHL1, FLNC, GNE, LDB3, MATR3, MYH7, MYOT, SQSTM1, TCAP, TIA1, TTN, VCP	NGS Del Dup
Dyggve-Melchior-Clausen disease	DYM	Del Dup NGS
Dyggve-Melchior-Clausen disease NGS panel	DYM, RAB33B	NGS Del Dup
Dyskeratosis congenita NGS panel	ACD, CTC1, DKC1, NHP2, NOP10, PARN, RTEL1, TERC, TERT, TINF2, USB1, WRAP53	Del Dup NGS
Genitopatellar syndrome	KAT6B	Del Dup NGS
Glass syndrome	SATB2	Del Dup NGS
Hereditary motor and sensory neuropathy, type IIC	TRPV4	NGS Del Dup
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1	VCP	Del Dup NGS
Joubert syndrome and related disorders NGS panel	AHI1, ARL13B, B9D1, B9D2, C5orf42, CC2D2A, CEP104, CEP290, CEP41, CSPP1, INPP5E, KIAA0556, KIAA0586, KIF14, KIF7, MKS1, NPHP1, NPHP3, OFD1, PDE6D, RPGRIP1L, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B, ZNF423	NGS Del Dup
KBG syndrome	ANKRD11	Del Dup NGS
Lateral meningocele syndrome	NOTCH3	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
Marshall-Smith syndrome	NFIX	Del Dup NGS
Menkes disease	ATP7A	Del Dup NGS
Microcephaly-capillary malformation syndrome	STAMBP	Del Dup NGS
Mowat-Wilson syndrome	ZEB2	Del Dup NGS
Mucopolysaccharidosis NGS panel	ARSB, GALNS, GLB1, GNPTAB, GNPTG, GNS, GUSB, HGSNAT, HYAL1, IDS, IDUA, MCOLN1, NAGLU, SGSH	Del Dup NGS
Myofibrillar myopathy and related disorders NGS panel	ACTA1, BAG3, CRYAB, DES, DNAJB6, FHL1, FLNC, KY, LDB3, MYOT, PYROXD1	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
Neurofibromatosis and related disorders NGS panel	MLH1, MSH2, MSH6, NF1, NF2, SPRED1	Del Dup NGS
Neurofibromatosis type I	NF1	Del Dup NGS
Ohdo syndrome, SBBYS variant	KAT6B	Del Dup NGS
Overgrowth syndrome NGS panel	EED, EZH2, GPC3, NFIX, NSD1, OFD1, PIGA	NGS Del Dup
Paget disease of bone and related disorders NGS panel	HNRNPA1, HNRNPA2B1, SQSTM1, TNFRSF11A, TNFRSF11B, VCP, ZNF687	NGS Del Dup
Periventricular nodular heterotopia 1	FLNA	Del Dup NGS
Phosphoglycerate dehydrogenase deficiency	PHGDH	Del Dup NGS
Phosphoserine aminotransferase deficiency	PSAT1	Del Dup NGS
Porencephaly 1	COL4A1	Del Dup NGS
Porencephaly 2	COL4A2	Del Dup NGS
Porencephaly NGS panel	COL4A1, COL4A2	Del Dup NGS
Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome	FLVCR2	Del Dup NGS
Rhizomelic chondrodysplasia punctata type 1	PEX7	Sanger Del Dup NGS
Rhizomelic chondrodysplasia punctata, type 2	GNPAT	Del Dup NGS
Rhizomelic chondrodysplasia punctata, type 3	AGPS	Del Dup NGS
Rubinstein-Taybi syndrome 1	CREBBP	Del Dup NGS
Rubinstein-Taybi syndrome 2	EP300	Del Dup NGS
Rubinstein-Taybi syndrome NGS panel	CREBBP, EP300	Del Dup NGS
Scapuloperoneal spinal muscular atrophy	TRPV4	NGS Del Dup
Schwartz-Jampel syndrome, type 1	HSPG2	Del Dup NGS
Simpson-Golabi-Behmel syndrome	GPC3	Del Dup NGS
Simpson-Golabi-Behmel syndrome, PIGA related	PIGA	Sanger Del Dup NGS
Simpson-Golabi-Behmel syndrome, type 2	OFD1	NGS Del Dup
Snyder-Robinson mental retardation syndrome	SMS	Del Dup NGS
Sotos syndrome 1	NSD1	Del Dup NGS
Sotos syndrome 2	NFIX	Del Dup NGS
Spinal muscular atrophy, distal, congenital nonprogressive	TRPV4	Del Dup NGS
Spinal muscular atrophy, distal, X-linked 3	ATP7A	Del Dup NGS
Tuberous sclerosis NGS panel	TSC1, TSC2	Del Dup NGS
Van Maldergem syndrome 1	DCHS1	Del Dup NGS
Weaver and Cohen-Gibson syndrome NGS panel	EED, EZH2	Del Dup NGS
Weaver syndrome	EZH2	Del Dup NGS

Osteogenesis Imperfecta and Low Bone Density Disorders
Bruck syndrome 2	PLOD2	Del Dup NGS
Cole-Carpenter syndrome 1	P4HB	Del Dup NGS
Cole-Carpenter syndrome 2	SEC24D	Del Dup NGS
Cole-Carpenter syndrome NGS panel	P4HB, SEC24D	Del Dup NGS
Gnathodiaphyseal dysplasia	ANO5	Del Dup NGS
Hypophosphatasia, infantile, childhood & adult types	ALPL	Sanger Del Dup NGS
Osteogenesis imperfecta COL1A1 & COL1A2 panel	COL1A1, COL1A2	NGS Del Dup
Osteogenesis imperfecta core NGS panel	COL1A1, COL1A2, IFITM5	Del Dup NGS
Osteogenesis imperfecta NGS panel - Dominant	ALPL, ANO5, COL1A1, COL1A2, IFITM5, P4HB, PLS3	NGS Del Dup
Osteogenesis imperfecta NGS panel - Dominant & Recessive	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.	Del Dup NGS
Osteogenesis imperfecta NGS panel - Recessive	ALPL, BMP1, CREB3L1, CRTAP, FKBP10, LRP5, MBTPS2, P3H1, PLOD2, PLS3, PPIB, SEC24D, SERPINF1, SERPINH1, SP7, SPARC, TAPT1, TMEM38B, WNT1, XYLT2	NGS Del Dup
Osteogenesis imperfecta, PLS3 related	PLS3	Del Dup NGS
Osteogenesis imperfecta, type IX	PPIB	Del Dup NGS Sanger
Osteogenesis imperfecta, type V	IFITM5	Sanger Del Dup NGS
Osteogenesis imperfecta, type VI	SERPINF1	Sanger Del Dup NGS
Osteogenesis imperfecta, type VII	CRTAP	Sanger Del Dup NGS
Osteogenesis imperfecta, type VIII	P3H1	Del Dup NGS
Osteogenesis imperfecta, type X	SERPINH1	Sanger Del Dup NGS
Osteogenesis imperfecta, type XI	FKBP10	Sanger Del Dup NGS
Osteogenesis imperfecta, type XII	SP7	Sanger Del Dup NGS
Osteogenesis imperfecta, type XIII	BMP1	Del Dup NGS
Osteogenesis imperfecta, type XVI	CREB3L1	Del Dup NGS
Osteogenesis imperfecta, type XVII	SPARC	Sanger Del Dup NGS
Osteogenesis imperfecta, types I, II, III & IV	COL1A1	Del Dup NGS
Osteogenesis imperfecta, types I, II, III & IV	COL1A2	Del Dup NGS
Osteoporosis-pseudoglioma syndrome	LRP5	Del Dup NGS
Snyder-Robinson mental retardation syndrome	SMS	Del Dup NGS
Spondyloocular syndrome	XYLT2	Del Dup NGS

Osteopetrosis and High Bone Density Disorders
Buschke-Ollendorff syndrome	LEMD3	Del Dup NGS
Caffey disease	COL1A1	Del Dup NGS
Camurati-Engelmann disease	TGFB1	Del Dup NGS
Craniodiaphyseal dysplasia, autosomal dominant	SOST	Del Dup NGS Sanger
Craniometaphyseal dysplasia, autosomal dominant	ANKH	Del Dup NGS
Dense bone dysplasia NGS panel	ANKH, COL1A1, DLX3, GJA1, HPGD, LRP4, MTAP, PTDSS1, SLCO2A1, SOST, TBXAS1, TGFB1, TNFRSF11B, TYROBP	Del Dup NGS
Exostoses, multiple, type I	EXT1	NGS Del Dup
Exostoses, multiple, type II	EXT2	Del Dup NGS
Gracile bone dysplasia	FAM111A	Del Dup NGS
Hyperostosis corticalis generalisata (Van Buchem disease)	SOST	Sanger Del Dup NGS
Hyperostosis corticalis generalisata, benign form of worth, with torus palatinus	LRP5	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
Multiple exostoses NGS panel	EXT1, EXT2	Del Dup NGS
Osteopathia striata with cranial sclerosis	AMER1	Del Dup NGS
Osteopetrosis and Dense bone dysplasia NGS panel	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	NGS Del Dup
Osteopetrosis core NGS panel	CLCN7, OSTM1, TCIRG1	NGS Del Dup
Osteopetrosis NGS panel	AMER1, CA2, CLCN7, CTSK, FAM20C, FERMT3, LEMD3, LRP5, OSTM1, PLEKHM1, SNX10, TCIRG1, TNFRSF11A, TNFSF11	NGS Del Dup
Osteopetrosis with renal tubular acidosis 3	CA2	Del Dup NGS
Osteopetrosis, autosomal dominant 1	LRP5	Del Dup NGS
Osteopetrosis, autosomal dominant 2 & autosomal recessive 4	CLCN7	Del Dup NGS
Osteopetrosis, autosomal recessive 1	TCIRG1	Del Dup NGS
Osteopetrosis, autosomal recessive 2	TNFSF11	Del Dup NGS
Osteopetrosis, autosomal recessive 5	OSTM1	Del Dup NGS
Osteopetrosis, autosomal recessive 6	PLEKHM1	Del Dup NGS
Osteopetrosis, autosomal recessive 7	TNFRSF11A	Del Dup NGS
Pycnodysostosis	CTSK	Sanger Del Dup NGS
Sclerosteosis	SOST	Sanger Del Dup NGS
Van Buchem disease, type 2	LRP5	Del Dup NGS

Skeletal Ciliopathies
Axial spondylometaphyseal dysplasia NGS panel	C21orf2, NEK1	Del Dup NGS
Cranioectodermal dysplasia 2	WDR35	Del Dup NGS
Cranioectodermal dysplasia 4	WDR19	Del Dup NGS
Ellis-van Creveld syndrome and Weyers acrofacial dysostosis NGS Panel	EVC, EVC2	Del Dup NGS
Short-rib thoracic dysplasia 2 with or without polydactyly	IFT80	Del Dup NGS
Short-rib thoracic dysplasia 3 with or without polydactyly	DYNC2H1	Del Dup NGS
Short-rib thoracic dysplasia 4 with or without polydactyly	TTC21B	Del Dup NGS
Short-rib thoracic dysplasia 5 with or without polydactyly	WDR19	Del Dup NGS
Short-rib thoracic dysplasia 6 with or without polydactyly	NEK1	Del Dup NGS
Short-rib thoracic dysplasia 7 with or without polydactyly	WDR35	Del Dup NGS
Short-rib thoracic dysplasia 8 with or without polydactyly	WDR60	Del Dup NGS
Skeletal dysplasia ciliopathy NGS panel	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 Dysplasias
Achondrogenesis NGS panel	COL2A1, SLC26A2, TRIP11	Del Dup NGS
Achondrogenesis, type IA	TRIP11	NGS Del Dup
Achondrogenesis, type IB - SLC26A2	SLC26A2	Sanger Del Dup NGS
Achondrogenesis, type II / Hypochondrogenesis	COL2A1	Del Dup NGS
Achondroplasia / Hypochondroplasia	FGFR3	Sanger Del Dup NGS
Acrofacial dysostosis 1, Nager type	SF3B4	Sanger Del Dup NGS
Acromesomelic dysplasia, Hunter-Thompson type	GDF5	Del Dup NGS
Acromesomelic dysplasia, Maroteaux type	NPR2	Del Dup NGS
Acromicric dysplasia	FBN1	Sanger
Alagille syndrome 1	JAG1	Del Dup NGS
Alagille syndrome 2	NOTCH2	Del Dup NGS
Alagille syndrome NGS panel	ATP8B1, JAG1, NOTCH2	Del Dup NGS
Alagille syndrome, ATP8B1 related	ATP8B1	Del Dup NGS
Anauxetic dysplasia	RMRP	Sanger Del Dup NGS
Atelosteogenesis, type I / III	FLNB	Sanger Del Dup NGS
Atelosteogenesis, type II	SLC26A2	Del Dup NGS Sanger
Avascular necrosis of femoral head, primary	COL2A1	Del Dup NGS
Axial spondylometaphyseal dysplasia NGS panel	C21orf2, NEK1	Del Dup NGS
Basal cell nevus syndrome - PTCH1	PTCH1	Del Dup NGS
Basal cell nevus syndrome - PTCH2	PTCH2	Del Dup NGS
Basal cell nevus syndrome - SUFU	SUFU	Del Dup NGS
Basal cell nevus syndrome NGS panel	PTCH1, PTCH2, SUFU	Del Dup NGS
Bent bone dysplasia syndrome	FGFR2	Del Dup NGS
Boomerang dysplasia	FLNB	NGS Sanger Del Dup
Brachyolmia type 3	TRPV4	Del Dup NGS
Campomelic dysplasia	SOX9	Sanger Del Dup NGS
Camptodactyly, tall stature, and hearing loss syndrome	FGFR3	Del Dup NGS
Cantu syndrome	ABCC9	Del Dup NGS
Cantu syndrome NGS panel	ABCC9, KCNJ8	Del Dup NGS
Cantu syndrome, KCNJ8 related	KCNJ8	NGS Sanger Del Dup
Cartilage-hair hypoplasia	RMRP	Sanger Del Dup NGS
Chondrodysplasia punctata 1, X-linked recessive	ARSE	NGS Del Dup
Chondrodysplasia punctata 2, X-linked dominant	EBP	Del Dup NGS
Chondrodysplasia punctata and related disorders NGS panel	AGPS, ARSE, EBP, FAR1, GNPAT, LBR, MGP, NSDHL, PEX5, PEX7	NGS Del Dup
Chondrodysplasia with joint dislocations, GPAPP type	IMPAD1	Sanger Del Dup NGS
Chondrodysplasia, Blomstrand type	PTH1R	Del Dup NGS
Chondrodysplasia, Grebe type	GDF5	Del Dup NGS
Cleidocranial dysplasia	RUNX2	Del Dup NGS
Cockayne syndrome NGS panel	ERCC6, ERCC8	NGS Del Dup
Congenital contractural arachnodactyly	FBN2	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	NGS Del Dup
Cornelia de Lange syndrome 1	NIPBL	Del Dup NGS
Cornelia de Lange syndrome and related disorders NGS panel	AFF4, ANKRD11, HDAC8, KMT2A, NIPBL, RAD21, SMC1A, SMC3	NGS Del Dup
Czech dysplasia	COL2A1	Del Dup NGS
Desbuquois dysplasia 1	CANT1	Del Dup NGS
Desbuquois dysplasia 2	XYLT1	Del Dup NGS
Desbuquois dysplasia and related disorders NGS panel	B3GALT6, B3GAT3, CANT1, CHST3, CSGALNACT1, FLNB, GZF1, IMPAD1, KIF22, SLC26A2, XYLT1	NGS Del Dup
Desbuquois dysplasia core NGS panel	CANT1, CSGALNACT1, IMPAD1, XYLT1	Del Dup NGS
Diaphanospondylodysostosis	BMPER	Del Dup NGS
Diastrophic dysplasia	SLC26A2	Sanger Del Dup NGS
Digital arthropathy-brachydactyly, familial	TRPV4	Del Dup NGS
Distal arthrogryposes NGS panel	ECEL1, FBN2, MYBPC1, MYH3, MYH8, NALCN, PIEZO2, TNNI2, TNNT3, TPM2	NGS Del Dup
Dyggve-Melchior-Clausen disease	DYM	Del Dup NGS
Dyggve-Melchior-Clausen disease NGS panel	DYM, RAB33B	Del Dup NGS
Dyssegmental dysplasia, Silverman-Handmaker type	HSPG2	Del Dup NGS
Eiken syndrome	PTH1R	Del Dup NGS
Fibrochondrogenesis 1	COL11A1	Del Dup NGS
Fibrochondrogenesis 2	COL11A2	Del Dup NGS
Fibrochondrogenesis NGS panel	COL11A1, COL11A2	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
Frontometaphyseal dysplasia NGS panel	FLNA, MAP3K7, TAB2	NGS Del Dup
Geleophysic dysplasia 1	ADAMTSL2	Del Dup NGS
Geleophysic dysplasia 2	FBN1	Sanger
Genitopatellar syndrome	KAT6B	Del Dup NGS
Greig cephalopolysyndactyly syndrome	GLI3	Del Dup NGS
Hajdu-Cheney syndrome	NOTCH2	Del Dup NGS
KBG syndrome	ANKRD11	Del Dup NGS
Klippel-Feil Syndrome 1	GDF6	Del Dup NGS Sanger
Klippel-Feil syndrome 2	MEOX1	Sanger Del Dup NGS
Klippel-Feil syndrome 3	GDF3	Sanger Del Dup NGS
Klippel-Feil syndrome NGS panel	GDF3, GDF6, MEOX1, MYO18B, RIPPLY2	NGS Del Dup
Klippel-Feil syndrome, RIPPLY2 related	RIPPLY2	Sanger Del Dup NGS
Kniest dysplasia	COL2A1	Del Dup NGS
Langer mesomelic dysplasia	SHOX	Sanger Del Dup NGS
Larsen syndrome, autosomal dominant	FLNB	Sanger Del Dup NGS
Larsen syndrome, autosomal recessive	CHST3	Del Dup NGS
Lateral meningocele syndrome	NOTCH3	Del Dup NGS
Leri-Weill dyschondrosteosis	SHOX	Del Dup NGS Sanger
Lethal congenital contracture 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
Marshall-Smith syndrome	NFIX	NGS Del Dup
Meier-Gorlin syndrome 1	ORC1	Del Dup NGS
Meier-Gorlin syndrome 2	ORC4	Del Dup NGS
Meier-Gorlin syndrome 3	ORC6	Del Dup NGS
Meier-Gorlin syndrome 4	CDT1	Del Dup NGS
Meier-Gorlin syndrome 5	CDC6	Del Dup NGS
Meier-Gorlin syndrome NGS panel	CDC45, CDC6, CDT1, GMNN, MCM5, ORC1, ORC4, ORC6	NGS Del Dup
Melnick-Needles syndrome	FLNA	Del Dup NGS
Metaphyseal anadysplasia 1	MMP13	NGS Del Dup
Metaphyseal anadysplasia 2	MMP9	Del Dup NGS
Metaphyseal anadysplasia NGS panel	MMP13, MMP9	Del Dup NGS
Metaphyseal chondrodysplasia, Jansen type	PTH1R	Del Dup NGS
Metaphyseal chondrodysplasia, Schmid type	COL10A1	Sanger Del Dup NGS
Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly	RUNX2	Del Dup NGS
Metaphyseal dysplasia without hypotrichosis	RMRP	Sanger Del Dup NGS
Metaphyseal dysplasia, Spahr type	MMP13	Del Dup NGS
Metatropic dysplasia	TRPV4	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	NGS Del Dup
Mucopolysaccharidosis NGS panel	ARSB, GALNS, GLB1, GNPTAB, GNPTG, GNS, GUSB, HGSNAT, HYAL1, IDS, IDUA, MCOLN1, NAGLU, SGSH	Del Dup NGS
Multiple epiphyseal dysplasia	COMP	Del Dup NGS
Multiple epiphyseal dysplasia (MED) NGS panel	CANT1, COL2A1, COL9A1, COL9A2, COL9A3, COMP, MATN3, SLC26A2	NGS Del Dup
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects	B3GAT3	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 NGS
Nail-patella syndrome	LMX1B	NGS Del Dup
Omodysplasia NGS panel	FZD2, GPC6	Del Dup NGS
Opsismodysplasia	INPPL1	Del Dup NGS
Osteoarthritis with mild chondrodysplasia	COL2A1	Del Dup NGS
Otopalatodigital syndrome, type I / II	FLNA	Del Dup NGS
Otospondylomegaepiphyseal dysplasia	COL11A2	Del Dup NGS
Overgrowth syndrome NGS panel	EED, EZH2, GPC3, NFIX, NSD1, OFD1, PIGA	NGS Del Dup
Pallister-Hall syndrome	GLI3	Del Dup NGS
Parastremmatic dwarfism	TRPV4	Del Dup NGS
Platyspondylic lethal skeletal dysplasia, Torrance type	COL2A1	Del Dup NGS Sanger
Polydactyly, preaxial IV & postaxial, type A1	GLI3	Del Dup NGS
Postaxial acrofacial dysostosis	DHODH	NGS Del Dup
Progressive pseudorheumatoid arthropathy of childhood	WISP3	Sanger Del Dup NGS
Pseudoachondroplasia	COMP	Del Dup NGS
Rhizomelic chondrodysplasia punctata type 1	PEX7	Sanger Del Dup NGS
Rhizomelic chondrodysplasia punctata, type 2	GNPAT	Del Dup NGS
Rhizomelic chondrodysplasia punctata, type 3	AGPS	Del Dup NGS
Robinow syndrome NGS panel	DVL1, DVL3, FZD2, NXN, ROR2, WNT5A	NGS Del Dup
Robinow syndrome, autosomal dominant 1	WNT5A	NGS Sanger Del Dup
Robinow syndrome, autosomal dominant 2	DVL1	Del Dup NGS
Robinow syndrome, autosomal recessive	ROR2	Sanger Del Dup NGS
Rubinstein-Taybi syndrome 1	CREBBP	Del Dup NGS
Rubinstein-Taybi syndrome 2	EP300	Del Dup NGS
Rubinstein-Taybi syndrome NGS panel	CREBBP, EP300	Del Dup NGS
Schneckenbecken dysplasia, INPPL1 related	INPPL1	Del Dup NGS
Schwartz-Jampel syndrome, type 1	HSPG2	NGS Del Dup
Serpentine fibula-polycystic kidney syndrome	NOTCH2	Del Dup NGS
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies	BMP2	Del Dup NGS
Short stature, idiopathic, X-linked	SHOX	Sanger Del Dup NGS
Simpson-Golabi-Behmel syndrome	GPC3	Del Dup NGS
Simpson-Golabi-Behmel syndrome, PIGA related	PIGA	Sanger Del Dup NGS
Simpson-Golabi-Behmel syndrome, type 2	OFD1	Del Dup NGS
Skeletal dysplasia core & extended NGS panel	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	ALPL, COL1A1, COL1A2, COL2A1, FGFR3, INPPL1, NKX3-2, SLC26A2, SOX9, TRIP11	NGS Del Dup
Skeletal dysplasia extended NGS panel	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	DYM	Del Dup NGS
Smith-McCort dysplasia NGS panel	DYM, RAB33B	Del Dup NGS
Sotos syndrome 1	NSD1	Del Dup NGS
Sotos syndrome 2	NFIX	Del Dup NGS
Spondylo-Epi-Metaphyseal dysplasias NGS panel	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
Spondylo-megaepiphyseal-metaphyseal dysplasia	NKX3-2	NGS Sanger Del Dup
Spondylocarpotarsal synostosis syndrome	FLNB	NGS Del Dup
Spondylocostal dysostosis 1, autosomal recessive	DLL3	Sanger Del Dup NGS
Spondylocostal dysostosis 2, autosomal recessive	MESP2	Sanger Del Dup NGS
Spondylocostal dysostosis 3, autosomal recessive	LFNG	Sanger Del Dup NGS
Spondylocostal dysostosis 4, autosomal recessive	HES7	Sanger Del Dup NGS
Spondylocostal dysostosis 5, autosomal dominant	TBX6	Sanger Del Dup NGS
Spondylocostal dysostosis 6, autosomal recessive	RIPPLY2	Sanger Del Dup NGS
Spondylocostal dysostosis NGS panel	DLL3, HES7, LFNG, MESP2, RIPPLY2, TBX6	Del Dup NGS
Spondyloepimetaphyseal dysplasia with joint laxity NGS Panel	B3GALT6, KIF22	Del Dup NGS
Spondyloepimetaphyseal dysplasia with joint laxity type 2	KIF22	Del Dup NGS
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	B3GALT6	Del Dup NGS
Spondyloepimetaphyseal dysplasia, Missouri type	MMP13	Del Dup NGS
Spondyloepimetaphyseal dysplasia, Strudwick type	COL2A1	Del Dup NGS
Spondyloepiphyseal dysplasia congenita	COL2A1	Del Dup NGS
Spondyloepiphyseal dysplasia tarda, X-linked	TRAPPC2	Sanger Del Dup NGS
Spondyloepiphyseal dysplasia with congenital joint dislocations	CHST3	Del Dup NGS
Spondyloepiphyseal dysplasia, Maroteaux type	TRPV4	Del Dup NGS
Spondylometaphyseal dysplasia with cone-rod dystrophy	PCYT1A	Sanger Del Dup NGS
Spondylometaphyseal dysplasia, Kozlowski type	TRPV4	NGS Del Dup
Spondyloperipheral dysplasia	COL2A1	Sanger Del Dup NGS
Steel syndrome	COL27A1	Del Dup NGS
Stickler syndrome NGS panel	COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, LOXL3, VCAN	NGS Del Dup
Stuve-Wiedemann syndrome	LIFR	Del Dup NGS
Terminal osseous dysplasia	FLNA	Del Dup NGS
Thanatophoric dysplasia, type I / II	FGFR3	Del Dup NGS Sanger
Three M syndrome 1	CUL7	Del Dup NGS
Three M syndrome 2	OBSL1	Del Dup NGS
Three M syndrome 3	CCDC8	Sanger Del Dup NGS
Three M syndrome NGS panel	CCDC8, CUL7, OBSL1	NGS Del Dup
Torg-Winchester syndrome	MMP2	Del Dup NGS
Treacher Collins syndrome and related disorders NGS panel	DHODH, EFTUD2, POLR1A, POLR1C, POLR1D, SF3B4, TCOF1, TXNL4A	Del Dup NGS
Treacher Collins syndrome core NGS panel	POLR1C, POLR1D, TCOF1	NGS Del Dup
Trichorhinophalangeal syndrome, type I / III	TRPS1	Del Dup NGS
Van Maldergem syndrome 1	DCHS1	Del Dup NGS
Weaver and Cohen-Gibson syndrome NGS panel	EED, EZH2	Del Dup NGS
Weaver syndrome	EZH2	Del Dup NGS
Weill-Marchesani syndrome 1	ADAMTS10	NGS Del Dup
Weill-Marchesani syndrome 2	FBN1	Del Dup NGS
Weill-Marchesani syndrome 3	LTBP2	Del Dup NGS
Weill-Marchesani syndrome NGS panel	ADAMTS10, ADAMTS17, FBN1, LTBP2	Del Dup NGS
Weill-Marchesani-like syndrome	ADAMTS17	Del Dup NGS
Weissenbacher-Zweymuller syndrome	COL11A2	Del Dup NGS
Wolcott-Rallison syndrome	EIF2AK3	Del Dup NGS

Skin, Tooth, Nail and Hair Disorders
Ablepharon-macrostomia syndrome	TWIST2	Sanger Del Dup NGS
Adams-Oliver Syndrome 1	ARHGAP31	Del Dup NGS
Adams-Oliver syndrome 2	DOCK6	Del Dup NGS
Adams-Oliver syndrome 3	RBPJ	Del Dup NGS
Adams-Oliver syndrome 4	EOGT	Del Dup NGS
Adams-Oliver syndrome 5	NOTCH1	Del Dup NGS
Adams-Oliver syndrome 6	DLL4	Del Dup NGS
Adams-Oliver syndrome NGS panel	ARHGAP31, DLL4, DOCK6, EOGT, NOTCH1, RBPJ	Del Dup NGS
Alopecia universalis congenita and Atrichia with papular lesions	HR	Del Dup NGS
Amelogenesis imperfecta and related disorders NGS panel	AMELX, C4ORF26, DLX3, DSPP, ENAM, FAM20A, FAM83H, GPR68, ITGB6, KLK4, LAMA3, LAMB3, MMP20, SLC24A4, SMOC2, WDR72	NGS Del Dup
Amelogenesis imperfecta, type IV	DLX3	Sanger Del Dup NGS
Arterial calcification, generalized, of infancy NGS panel	ABCC6, ENPP1	Del Dup NGS
Arterial calcification, generalized, of infancy, 1	ENPP1	Del Dup NGS
Arterial calcification, generalized, of infancy, 2	ABCC6	Del Dup NGS
Barber-Say syndrome	TWIST2	Sanger Del Dup NGS
Basal cell nevus syndrome - PTCH1	PTCH1	Del Dup NGS
Basal cell nevus syndrome - PTCH2	PTCH2	Del Dup NGS
Basal cell nevus syndrome - SUFU	SUFU	Del Dup NGS
Basal cell nevus syndrome NGS panel	PTCH1, PTCH2, SUFU	Del Dup NGS
Benign chronic pemphigus	ATP2C1	Del Dup NGS
Birt-Hogg-Dube syndrome	FLCN	Del Dup NGS
Branchiooculofacial syndrome	TFAP2A	Del Dup NGS
Buschke-Ollendorff syndrome	LEMD3	Del Dup NGS
Cantu syndrome	ABCC9	Del Dup NGS
Cantu syndrome NGS panel	ABCC9, KCNJ8	Del Dup NGS
Cantu syndrome, KCNJ8 related	KCNJ8	Del Dup NGS Sanger
Capillary malformation arteriovenous malformation	RASA1	NGS Del Dup
Cartilage-hair hypoplasia	RMRP	Sanger Del Dup NGS
Cutaneomucosal venous malformations	TEK	Del Dup NGS
Cutis laxa NGS panel	ALDH18A1, ATP6V0A2, ATP6V1A, ATP6V1E1, EFEMP2, ELN, FBLN5, LTBP4, PYCR1	NGS Del Dup
Cutis laxa, autosomal dominant 1	ELN	Del Dup NGS
Cutis laxa, autosomal dominant 2 & autosomal recessive, type IA	FBLN5	Del Dup NGS
Cutis laxa, autosomal recessive 1B	EFEMP2	Del Dup NGS
Cutis laxa, autosomal recessive IC	LTBP4	Del Dup NGS
Cutis laxa, autosomal recessive IIA	ATP6V0A2	Del Dup NGS
Cutis laxa, autosomal recessive IIIA	ALDH18A1	NGS Del Dup
Cutis laxa, autosomal recessive, type IIB & type IIIB	PYCR1	Del Dup NGS
Darier-White disease	ATP2A2	Del Dup NGS
Dyskeratosis congenita NGS panel	ACD, CTC1, DKC1, NHP2, NOP10, PARN, RTEL1, TERC, TERT, TINF2, USB1, WRAP53	Del Dup NGS
Ectodermal dysplasia 1, hypohidrotic, X-linked	EDA	Sanger Del Dup NGS
Ectodermal dysplasia NGS panel	EDA, EDAR, EDARADD, GJB6, HOXC13, KDF1, KREMEN1, KRT74, KRT85, MSX1	NGS Del Dup
Ehlers-Danlos syndrome core NGS panel	COL3A1, COL5A1, COL5A2	Del Dup NGS
Ehlers-Danlos syndrome NGS panel - Dominant	C1R, C1S, COL12A1, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, FLNA	NGS Del Dup
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive	ADAMTS2, 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	ADAMTS2, ATP7A, B3GALT6, B4GALT7, CHST14, COL12A1, DSE, FKBP14, PLOD1, PRDM5, SLC39A13, ZNF469	Del Dup NGS
Ehlers-Danlos syndrome, classic type NGS panel	COL5A1, COL5A2	Del Dup NGS
Ehlers-Danlos syndrome, musculocontractural type, 1	CHST14	Sanger Del Dup NGS
Ehlers-Danlos syndrome, periodontal type NGS panel	C1R, C1S	Del Dup NGS
Ehlers-Danlos syndrome, spondylodysplastic type NGS panel	B3GALT6, B4GALT7, SLC39A13	Del Dup NGS
Ehlers-Danlos syndrome, spondylodysplastic type, 1	B4GALT7	Del Dup NGS
Ehlers-Danlos syndrome, spondylodysplastic type, 2	B3GALT6	NGS Del Dup
Ehlers-Danlos syndrome, spondylodysplastic type, 3	SLC39A13	Del Dup NGS
Ehlers-Danlos syndrome, type I	COL5A1	Del Dup NGS
Ehlers-Danlos syndrome, type II	COL5A2	Del Dup NGS
Ehlers-Danlos syndrome, type IV	COL3A1	Del Dup NGS
Ehlers-Danlos syndrome, type VI	PLOD1	Del Dup NGS
Ehlers-Danlos syndrome, type VIIA / VIIB	COL1A1, COL1A2	NGS Del Dup
Epidermolysis bullosa dystrophica, autosomal dominant & recessive	COL7A1	Del Dup NGS
Epidermolysis bullosa NGS panel	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	DSP, GJA1, GJB3, GJB4, KDSR, KRT83, LOR	Del Dup NGS
Failure of tooth eruption, primary	PTH1R	Del Dup NGS
Focal dermal hypoplasia	PORCN	Del Dup NGS
Glomuvenous malformations	GLMN	Del Dup NGS
Glomuvenous malformations and Cutaneomucosal venous malformations NGS panel	GLMN, TEK	Del Dup NGS
Hereditary Hemorrhagic telangiectasia NGS panel	ACVRL1, ENG, GDF2, RASA1, SMAD4	NGS Del Dup
Hereditary hemorrhagic telangiectasia type 1	ENG	Del Dup NGS
Hereditary hemorrhagic telangiectasia type 2	ACVRL1	Sanger Del Dup NGS
Hereditary hemorrhagic telangiectasia type 5	GDF2	Sanger Del Dup NGS
Hypotrichosis NGS panel	APCDD1, CDSN, DSG4, HR, KRT25, KRT71, KRT74, LIPH, LPAR6, RPL21, SNRPE	Del Dup NGS
Ichthyosis NGS panel	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
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	SMAD4	Sanger Del Dup NGS
KBG syndrome	ANKRD11	Del Dup NGS
Marshall-Smith syndrome	NFIX	Del Dup NGS
Menkes disease	ATP7A	Del Dup NGS
Microcephaly-capillary malformation syndrome	STAMBP	Del Dup NGS
Multiple self-healing squamous epithelioma	TGFBR1	Sanger Del Dup NGS
Nail-patella syndrome	LMX1B	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
Neurofibromatosis and related disorders NGS panel	MLH1, MSH2, MSH6, NF1, NF2, SPRED1	NGS Del Dup
Neurofibromatosis type I	NF1	Del Dup NGS
Oculodentodigital dysplasia	GJA1	Sanger Del Dup NGS
Odontoonychodermal dysplasia	WNT10A	Sanger Del Dup NGS
Oligodontia - Selective tooth agenesis NGS panel	AXIN2, EDA, LRP6, LTBP3, MSX1, PAX9, PTH1R, WNT10A, WNT10B	NGS Del Dup
Parkes Weber syndrome	RASA1	Del Dup NGS
Peeling skin syndrome NGS panel	CAST, CDSN, CHST8, CSTA, FLG2, SERPINB8, TGM5	NGS Del Dup
Phosphoglycerate dehydrogenase deficiency	PHGDH	NGS Del Dup
Phosphoserine aminotransferase deficiency	PSAT1	Del Dup NGS
Pneumothorax, primary spontaneous	FLCN	Del Dup NGS
Popliteal pterygium syndrome	IRF6	Del Dup NGS
Popliteal pterygium syndrome, lethal type	RIPK4	Del Dup NGS
Progeroid syndromes and related disorders NGS panel	AGPAT2, ALDH18A1, B3GALT6, B4GALT7, BANF1, BSCL2, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, FBN1, LMNA, PDGFRB, POLD1, PYCR1, RECQL4, SLC25A24, WRN, ZMPSTE24	Del Dup NGS
Pseudoxanthoma elasticum	ABCC6	Del Dup NGS
Pseudoxanthoma elasticum NGS panel	ABCC6, GGCX	Del Dup NGS
Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency	GGCX	Del Dup NGS
Restrictive dermopathy, lethal NGS panel	LMNA, ZMPSTE24	Del Dup NGS
Schopf-Schulz-Passarge syndrome	WNT10A	NGS Sanger Del Dup
Stiff skin syndrome	FBN1	NGS Del Dup
Tooth agenesis, selective, 1	MSX1	Sanger Del Dup NGS
Tooth agenesis, selective, 4	WNT10A	Sanger Del Dup NGS
Trichodentoosseus syndrome	DLX3	NGS Sanger Del Dup
Trichorhinophalangeal syndrome, type I / III	TRPS1	Del Dup NGS
Trichothiodystrophy NGS panel	ERCC2, ERCC3, GTF2E2, GTF2H5, MPLKIP, RNF113A	NGS Del Dup
Tuberous sclerosis NGS panel	TSC1, TSC2	NGS Del Dup
Waardenburg syndrome NGS panel	EDN3, EDNRB, MITF, PAX3, SNAI2, SOX10, TYR	Del Dup NGS
Witkop syndrome	MSX1	Sanger Del Dup NGS
Xeroderma pigmentosum NGS panel	DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA, XPC	NGS Del Dup

Stickler Syndrome and Related Disorders
Kniest dysplasia	COL2A1	Del Dup NGS
Marshall syndrome	COL11A1	NGS Del Dup
Stickler syndrome core NGS panel	COL11A1, COL11A2, COL2A1	Del Dup NGS
Stickler syndrome NGS panel - Recessive	COL9A1, COL9A2, COL9A3	NGS Del Dup
Stickler syndrome, type I	COL2A1	Del Dup NGS
Stickler syndrome, type II	COL11A1	Del Dup NGS
Stickler syndrome, type III	COL11A2	Del Dup NGS
Wagner vitreoretinopathy	VCAN	Del Dup NGS

Vascular Malformations
Capillary malformation arteriovenous malformation	RASA1	Del Dup NGS
Cerebral arteriopathy, with subcortical infarcts and leukoencephalopathy 1	NOTCH3	Del Dup NGS
Cerebral cavernous malformations 1	KRIT1	Del Dup NGS
Cerebral cavernous malformations 2	CCM2	Del Dup NGS
Cerebral cavernous malformations 3	PDCD10	Del Dup NGS
Cerebral cavernous malformations NGS panel	CCM2, KRIT1, PDCD10	Del Dup NGS
Cutaneomucosal venous malformations	TEK	Del Dup NGS
Glomuvenous malformations	GLMN	NGS Del Dup
Glomuvenous malformations and Cutaneomucosal venous malformations NGS panel	GLMN, TEK	Del Dup NGS
Hereditary Hemorrhagic telangiectasia NGS panel	ACVRL1, ENG, GDF2, RASA1, SMAD4	NGS Del Dup
Hereditary hemorrhagic telangiectasia type 1	ENG	Del Dup NGS
Hereditary hemorrhagic telangiectasia type 2	ACVRL1	Sanger Del Dup NGS
Hereditary hemorrhagic telangiectasia type 5	GDF2	Sanger Del Dup NGS
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	SMAD4	Del Dup NGS Sanger
Parkes Weber syndrome	RASA1	Del Dup NGS
Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome	FLVCR2	Del Dup NGS
Vascular malformations NGS panel	ACVRL1, BMPR2, CAV1, CCM2, EIF2AK4, ELMO2, ENG, FOXF1, GATA2, GDF2, GLMN, KCNK3, KRIT1, PDCD10, PTEN, RASA1, SMAD4, SMAD9, TEK	NGS Del Dup

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