Browse CTGT's catalogue of connective tissue tests, including NGS panels, by disorder and panel name.

A

Ablepharon-macrostomia syndrome TWIST2
Sanger
Del Dup
Abnormal mineralization disorders NGS panel ALPL, ANKH, CASR, CLCN5, CYP27B1, DMP1, ENPP1, FAH, FGF23, OCRL, PHEX, SLC34A1, SLC34A3, SLC9A3R1, VDR
Del Dup
NGS
Achondrogenesis NGS panel COL2A1, SLC26A2, TRIP11
Del Dup
NGS
Achondrogenesis, type IA TRIP11
Del Dup
NGS
Achondrogenesis, type IB - SLC26A2 SLC26A2
Sanger
Del Dup
Achondrogenesis, type II / Hypochondrogenesis COL2A1
Del Dup
NGS
Achondroplasia / Hypochondroplasia FGFR3
Sanger
Del Dup
NGS
Acrofacial dysostosis 1, Nager type SF3B4
Sanger
Del Dup
Acromelic frontonasal dysostosis ZSWIM6
Sanger
Del Dup
Acromesomelic dysplasia, Hunter-Thompson type GDF5
Sanger
Del Dup
Acromesomelic dysplasia, Maroteaux type NPR2
Sanger
Del Dup
Acromicric dysplasia FBN1
Sanger
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
Sanger
Del Dup
Adams-Oliver syndrome NGS panel ARHGAP31, DLL4, DOCK6, EOGT, NOTCH1, RBPJ
Del Dup
NGS
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
Alpha-1-antitrypsin deficiency SERPINA1
Sanger
Del Dup
Alport syndrome NGS panel COL4A3, COL4A4, COL4A5, COL4A6
Del Dup
NGS
Alport syndrome, X-linked COL4A5
Del Dup
NGS
Amelogenesis imperfecta, type IV DLX3
Sanger
Del Dup
Anauxetic dysplasia RMRP
Sanger
Del Dup
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps COL4A1
Del Dup
NGS
Aortic aneurysm, familial thoracic 3 TGFBR2
Sanger
Del Dup
Aortic aneurysm, familial thoracic 4 MYH11
Del Dup
NGS
Aortic aneurysm, familial thoracic 5 TGFBR1
Sanger
Del Dup
Aortic aneurysm, familial thoracic 5 / 3 TGFBR1, TGFBR2
Sanger
Del Dup
Aortic aneurysm, familial thoracic 6 ACTA2
Sanger
Del Dup
Aortic aneurysm, familial thoracic 7 MYLK
NGS
Aortic aneurysm, familial thoracic 8 PRKG1
Del Dup
NGS
Aortic aneurysm, familial thoracic 9 MFAP5
Sanger
Del Dup
Aortic valve disease 1 NOTCH1
Del Dup
NGS
Apert syndrome FGFR2
Sanger
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
Arterial tortuosity syndrome SLC2A10
Sanger
Del Dup
Atelosteogenesis, type I / III FLNB
Sanger
Del Dup
NGS
Atelosteogenesis, type II SLC26A2
Sanger
Del Dup
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
Avascular necrosis of femoral head, primary COL2A1
Del Dup
NGS

B

Barber-Say syndrome TWIST2
Sanger
Del Dup
Basal cell nevus syndrome - PTCH1 PTCH1
Del Dup
NGS
Basal cell nevus syndrome - PTCH2 PTCH2
Del Dup
NGS
Basal cell nevus syndrome - SUFU SUFU
Sanger
Del Dup
Basal cell nevus syndrome NGS panel PTCH1, PTCH2, SUFU
Del Dup
NGS
Beare-Stevenson cutis gyrata syndrome FGFR2
Sanger
Bent bone dysplasia syndrome FGFR2
Sanger
Del Dup
NGS
Bethlem myopathy & Ullrich congenital muscular dystrophy NGS panel COL6A1, COL6A2, COL6A3
Del Dup
NGS
Birt-Hogg-Dube syndrome FLCN
Sanger
Del Dup
Boomerang dysplasia FLNB
Sanger
Del Dup
NGS
Brachyolmia type 3 TRPV4
Sanger
Del Dup
Brain small vessel disease with or without ocular anomalies COL4A1
Del Dup
NGS
Branchiooculofacial syndrome TFAP2A
Sanger
Del Dup
Brittle cornea syndrome 1 ZNF469
Sanger
Del Dup
Brittle cornea syndrome 2 PRDM5
Sanger
Del Dup
Bruck syndrome 2 PLOD2
Del Dup
NGS
Buschke-Ollendorff syndrome LEMD3
Del Dup
NGS

C

Caffey disease COL1A1
Sanger
Campomelic dysplasia SOX9
Sanger
Del Dup
Camptodactyly, tall stature, and hearing loss syndrome FGFR3
Del Dup
NGS
Camurati-Engelmann disease TGFB1
Del Dup
NGS
Cantu syndrome ABCC9
Del Dup
NGS
Cantu syndrome NGS panel ABCC9, KCNJ8
Del Dup
NGS
Cantu syndrome, KCNJ8 related KCNJ8
Sanger
Del Dup
Capillary malformation arteriovenous malformation RASA1
Del Dup
NGS
Cardiac valvular dysplasia, X-linked FLNA
NGS
Cartilage-hair hypoplasia RMRP
Sanger
Del Dup
Catel-Manzke syndrome TGDS
Sanger
Del Dup
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy NOTCH3
Del Dup
NGS
Cerebral cavernous malformations 1 KRIT1
Sanger
Del Dup
Cerebral cavernous malformations 2 CCM2
Sanger
Del Dup
Cerebral cavernous malformations 3 PDCD10
Sanger
Del Dup
Cerebral cavernous malformations NGS panel CCM2, KRIT1, PDCD10
Del Dup
NGS
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
Del Dup
NGS
CHARGE syndrome CHD7
Del Dup
NGS
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
Del Dup
NGS
Cholestasis, progressive familial intrahepatic, 4 TJP2
Del Dup
NGS
Chondrocalcinosis 2 ANKH
Del Dup
NGS
Chondrodysplasia punctata 1, X-linked recessive ARSE
Sanger
Del Dup
Chondrodysplasia punctata 2, X-linked dominant EBP
Sanger
Del Dup
Chondrodysplasia punctata and related disorders NGS panel AGPS, ARSE, EBP, GNPAT, LBR, MGP, NSDHL, PEX7
Del Dup
NGS
Chondrodysplasia with joint dislocations, GPAPP type IMPAD1
Sanger
Del Dup
Chondrodysplasia, Blomstrand type PTH1R
Del Dup
NGS
Chondrodysplasia, Grebe type GDF5
Sanger
Del Dup
Cleidocranial dysplasia RUNX2
Sanger
Del Dup
Cole-Carpenter syndrome 1 P4HB
Sanger
Del Dup
Cole-Carpenter syndrome 2 SEC24D
Del Dup
NGS
Cole-Carpenter syndrome NGS panel P4HB, SEC24D
Del Dup
NGS
Congenital contractural arachnodactyly FBN2
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
Cornelia de Lange syndrome 1 NIPBL
Del Dup
NGS
Cornelia de Lange syndrome NGS panel HDAC8, NIPBL, RAD21, SMC1A, SMC3
Del Dup
NGS
Craniodiaphyseal dysplasia, autosomal dominant SOST
Sanger
Del Dup
Cranioectodermal dysplasia 2 WDR35
Del Dup
NGS
Cranioectodermal dysplasia 4 WDR19
Del Dup
NGS
Craniofrontonasal syndrome EFNB1
Sanger
Del Dup
Craniometaphyseal dysplasia, autosomal dominant ANKH
Del Dup
NGS
Craniosynostosis core NGS panel FGFR1, FGFR2, FGFR3, TCF12, TWIST1
Del Dup
NGS
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
Crouzon syndrome FGFR2
Sanger
Crouzon syndrome with acanthosis nigricans FGFR3
Sanger
Cutaneomucosal venous malformations TEK
Del Dup
NGS
Cutis laxa NGS panel ALDH18A1, ATP6V0A2, EFEMP2, ELN, FBLN5, LTBP4, PYCR1
Del Dup
NGS
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
Sanger
Del Dup
Cutis laxa, autosomal recessive IC LTBP4
Del Dup
NGS
Cutis laxa, autosomal recessive IIA ATP6V0A2
Del Dup
NGS
Cutis laxa, autosomal recessive IIIA ALDH18A1
Del Dup
NGS
Cutis laxa, autosomal recessive, type IIB & type IIIB PYCR1
Sanger
Del Dup
Czech dysplasia COL2A1
Sanger
Del Dup
NGS

D

Deletion / Duplication test (Any of the NGS-Del/Dup panel genes)
Del Dup
Dense bone dysplasia NGS panel ANKH, COL1A1, DLX3, GJA1, HPGD, LRP4, MTAP, PTDSS1, SLCO2A1, SOST, TBXAS1, TGFB1, TNFRSF11B, TYROBP
Del Dup
NGS
Desbuquois dysplasia 1 CANT1
Sanger
Del Dup
Desbuquois dysplasia 2 XYLT1
Del Dup
NGS
Desbuquois dysplasia NGS panel CANT1, XYLT1
Del Dup
NGS
Diaphanospondylodysostosis BMPER
Sanger
Del Dup
Diastrophic dysplasia SLC26A2
Sanger
Del Dup
Digital arthropathy-brachydactyly, familial TRPV4
Sanger
Del Dup
Distal arthrogryposes NGS panel ECEL1, FBN2, MYBPC1, MYH3, MYH8, NALCN, PIEZO2, TNNI2, TNNT3, TPM2
Del Dup
NGS
Dyggve-Melchior-Clausen disease DYM
Del Dup
NGS
Dyssegmental dysplasia, Silverman-Handmaker type HSPG2
Del Dup
NGS

E

Ectodermal dysplasia 1, hypohidrotic, X-linked EDA
Sanger
Del Dup
Ectopia lentis NGS panel ADAMTSL4, FBN1
Del Dup
NGS
Ectopia lentis, isolated, autosomal dominant FBN1
Del Dup
NGS
Ectopia lentis, isolated, autosomal recessive ADAMTSL4
Del Dup
NGS
Ehlers-Danlos syndrome NGS panel - Dominant COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, FLNA
Del Dup
NGS
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive ADAMTS2, ATP7A, CHST14, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, FKBP14, FLNA, PLOD1, SLC39A13
Del Dup
NGS
Ehlers-Danlos syndrome NGS panel - Recessive ADAMTS2, ATP7A, CHST14, FKBP14, PLOD1, SLC39A13
Del Dup
NGS
Ehlers-Danlos syndrome, classic type NGS panel COL5A1, COL5A2
Del Dup
NGS
Ehlers-Danlos syndrome, musculocontractural type CHST14
Sanger
Del Dup
Ehlers-Danlos syndrome, progeroid type, 1 B4GALT7
Sanger
Del Dup
Ehlers-Danlos syndrome, progeroid type, 1 / 2 B3GALT6, B4GALT7
Sanger
Del Dup
Ehlers-Danlos syndrome, progeroid type, 2 B3GALT6
Sanger
Ehlers-Danlos syndrome, spondylocheiro dysplastic form SLC39A13
Del Dup
NGS
Ehlers-Danlos syndrome, type I / II - (COL5A1) COL5A1
Del Dup
NGS
Ehlers-Danlos syndrome, type I / II - (COL5A2) 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
Sanger
Del Dup
Eiken syndrome PTH1R
Del Dup
NGS
Ellis-van Creveld syndrome NGS Panel EVC, EVC2
Del Dup
NGS
Epidermolysis bullosa dystrophica, autosomal dominant & recessive COL7A1
Del Dup
NGS
Epidermolysis bullosa NGS panel COL17A1, COL7A1, DSP, DST, EXPH5, FERMT1, ITGA3, ITGA6, ITGB4, JUP, KRT14, KRT5, LAMA3, LAMB3, LAMC2, PKP1, PLEC1, TGM5
Del Dup
NGS
Exostoses, multiple, type I EXT1
Sanger
Del Dup
Exostoses, multiple, type I & II EXT1, EXT2
Sanger
Del Dup
Exostoses, multiple, type II EXT2
Sanger
Del Dup
Exudative vitreoretinopathy 1 FZD4
Sanger
Del Dup
Exudative vitreoretinopathy 2, X-linked NDP
Sanger
Del Dup
Exudative vitreoretinopathy 4 LRP5
Del Dup
NGS
Exudative vitreoretinopathy 5 TSPAN12
Sanger
Del Dup
Exudative vitreoretinopathy NGS panel CAPN5, FZD4, LRP5, NDP, TSPAN12, ZNF408
Del Dup
NGS

F

Failure of tooth eruption, primary PTH1R
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
FGFR2 related craniosynostosis FGFR2
Del Dup
NGS
Fibrillinopathy NGS panel CBS, FBN1, FBN2
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
Sanger
Del Dup
Fibular hypoplasia and complex brachydactyly GDF5
Sanger
Del Dup
Focal dermal hypoplasia PORCN
Sanger
Del Dup
Frontometaphyseal dysplasia FLNA
NGS
Frontonasal dysplasia 1 ALX3
Sanger
Del Dup
Frontonasal dysplasia 1 / 2 / 3 and Craniofrontonasal syndrome ALX1, ALX3, ALX4, EFNB1
Sanger
Del Dup
Frontonasal dysplasia 2 ALX4
Sanger
Del Dup
Frontonasal dysplasia 3 ALX1
Sanger
Del Dup
Frontonasal dysplasia, SIX2 related SIX2
Sanger
Del Dup

G

Geleophysic dysplasia 1 ADAMTSL2
Sanger
Del Dup
Geleophysic dysplasia 2 FBN1
Sanger
Genitopatellar syndrome KAT6B
Sanger
Del Dup
Glass syndrome SATB2
Sanger
Del Dup
Glomuvenous malformations GLMN
Del Dup
NGS
Glomuvenous malformations and Cutaneomucosal venous malformations NGS panel GLMN, TEK
Del Dup
NGS
Gnathodiaphyseal dysplasia ANO5
Sanger
Del Dup
Gracile bone dysplasia FAM111A
Sanger
Del Dup
Greig cephalopolysyndactyly syndrome GLI3
Del Dup
NGS

H

Hajdu-Cheney syndrome NOTCH2
Sanger
Del Dup
NGS
Hereditary Hemorrhagic telangiectasia NGS panel ACVRL1, ENG, GDF2, RASA1, SMAD4
Del Dup
NGS
Hereditary hemorrhagic telangiectasia type 1 ENG
Del Dup
NGS
Hereditary hemorrhagic telangiectasia type 2 ACVRL1
Sanger
Del Dup
Hereditary hemorrhagic telangiectasia type 5 GDF2
Sanger
Del Dup
Hereditary motor and sensory neuropathy, type IIC TRPV4
Sanger
Del Dup
Homocystinuria CBS
Del Dup
NGS
Hyperostosis corticalis generalisata (Van Buchem disease) SOST
Sanger
Del Dup
Hyperostosis corticalis generalisata, benign form of worth, with torus palatinus LRP5
Del Dup
NGS
Hyperparathyroidism, neonatal severe CASR
Sanger
Del Dup
Hyperphosphatemic familial tumoral calcinosis FGF23, GALNT3
Sanger
Del Dup
Hyperphosphatemic familial tumoral calcinosis - FGF23 FGF23
Sanger
Del Dup
Hyperphosphatemic familial tumoral calcinosis - GALNT3 GALNT3
Sanger
Del Dup
Hypocalcemia, autosomal dominant 1 CASR
Sanger
Del Dup
Hypocalcemia, autosomal dominant 1, with Bartter syndrome CASR
Sanger
Del Dup
Hypocalciuric hypercalcemia, familial, type 1 CASR
Sanger
Del Dup
Hypophosphatasia, infantile, childhood & adult types ALPL
Sanger
Del Dup

I

Ichthyosis NGS panel - Nonsyndromic ABCA12, ALOX12B, ALOXE3, CERS3, CYP4F22, FLG, GJA1, GJB3, GJB4, KRT1, KRT10, KRT2, LIPN, LOR, NIPAL4, PNPLA1, POMP, STS, TGM1
Del Dup
NGS
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 VCP
Sanger
Del Dup
Insulin-like growth factor I deficiency IGF1
Sanger
Del Dup
Insulin-like growth factor I deficiency and Insulin-like growth factor I, resistance to IGF1, IGF1R
Sanger
Del Dup
Insulin-like growth factor I, resistance to IGF1R
Sanger
Del Dup

J

Jackson-Weiss syndrome FGFR2
Sanger
Joubert syndrome and related disorders NGS panel AHI1, ARL13B, B9D1, B9D2, C5orf42, CC2D2A, CEP104, CEP290, CEP41, CSPP1, INPP5E, KIAA0586, KIF7, MKS1, NPHP1, NPHP3, OFD1, PDE6D, RPGRIP1L, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B, ZNF423
Del Dup
NGS
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome SMAD4
Sanger
Del Dup

K

KBG syndrome ANKRD11
Sanger
Del Dup
Kenny-Caffey syndrome, type 1 TBCE
Sanger
Del Dup
Kenny-Caffey syndrome, type 1 / 2 FAM111A, TBCE
Sanger
Del Dup
Kenny-Caffey syndrome, type 2 FAM111A
Sanger
Del Dup
Klippel-Feil Syndrome 1 GDF6
Sanger
Del Dup
Klippel-Feil syndrome 2 MEOX1
Sanger
Del Dup
Klippel-Feil syndrome 3 GDF3
Sanger
Del Dup
Klippel-Feil syndrome NGS panel GDF3, GDF6, MEOX1, MYO18B, RIPPLY2
Del Dup
NGS
Klippel-Feil syndrome, RIPPLY2 related RIPPLY2
Sanger
Del Dup
Kniest dysplasia COL2A1
Del Dup
NGS
Knobloch syndrome 1 COL18A1
Del Dup
NGS
Known familial mutation - One mutation
Sanger
Known familial mutations - Four mutations
Sanger
Known familial mutations - Three mutations
Sanger
Known familial mutations - Two mutations
Sanger

L

Langer mesomelic dysplasia SHOX
Sanger
Del Dup
Larsen syndrome, autosomal dominant FLNB
Sanger
Del Dup
NGS
Larsen syndrome, autosomal recessive CHST3
Sanger
Del Dup
Lateral meningocele syndrome NOTCH3
Sanger
Del Dup
NGS
Leri-Weill dyschondrosteosis SHOX
Sanger
Del Dup
Loeys-Dietz syndrome 1 TGFBR1
Sanger
Del Dup
Loeys-Dietz syndrome 1 / 2 TGFBR1, TGFBR2
Sanger
Del Dup
Loeys-Dietz syndrome 2 TGFBR2
Sanger
Del Dup
Loeys-Dietz syndrome 3 SMAD3
Sanger
Del Dup
Loeys-Dietz syndrome 4 TGFB2
Sanger
Del Dup
Loeys-Dietz Syndrome 5 TGFB3
Sanger
Del Dup
Loeys-Dietz syndrome NGS panel SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
Del Dup
NGS
Lysosomal acid lipase deficiency LIPA
Sanger
Del Dup

M

Mandibulofacial dysostosis, Guion-Almeida type EFTUD2
Del Dup
NGS
Marfan syndrome and Loeys-Dietz syndrome 1 / 2 NGS panel FBN1, TGFBR1, TGFBR2
Del Dup
NGS
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel - Fixed ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA, FOXE3, LOX, MAT2A, MED12, MFAP5, MYH11, MYLK, NOTCH1, PRKG1, SKI, SLC2A10, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2
Del Dup
NGS
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel - Flexible ACTA2, COL3A1, FBN1, MYH11, SLC2A10, SMAD3, TGFB2, TGFBR1, TGFBR2
NGS
Marfan syndrome, type I FBN1
Del Dup
NGS
Marfan syndrome, type I / II NGS panel FBN1, TGFBR2
Del Dup
NGS
Marfan syndrome, type II TGFBR2
Sanger
Del Dup
Marshall syndrome COL11A1
Del Dup
NGS
Marshall-Smith syndrome NFIX
Sanger
Del Dup
Meier-Gorlin syndrome 1 ORC1
Del Dup
NGS
Meier-Gorlin syndrome 2 ORC4
Sanger
Del Dup
Meier-Gorlin syndrome 3 ORC6
Sanger
Del Dup
Meier-Gorlin syndrome 4 CDT1
Sanger
Del Dup
Meier-Gorlin syndrome 5 CDC6
Sanger
Del Dup
Meier-Gorlin syndrome NGS panel CDC45, CDC6, CDT1, GMNN, ORC1, ORC4, ORC6
Del Dup
NGS
Melnick-Needles syndrome FLNA
NGS
Menkes disease ATP7A
Del Dup
NGS
Metaphyseal anadysplasia 1 MMP13
Sanger
Del Dup
Metaphyseal anadysplasia 2 MMP9
Sanger
Del Dup
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
Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly RUNX2
Sanger
Del Dup
Metaphyseal dysplasia without hypotrichosis RMRP
Sanger
Del Dup
Metaphyseal dysplasia, Spahr type MMP13
Sanger
Del Dup
Metatropic dysplasia TRPV4
Sanger
Del Dup
Microcephalic primordial dwarfism NGS panel ATR, ATRIP, CDC45, CDC6, CDT1, CENPJ, CEP152, CEP63, DNA2, GMNN, NIN, ORC1, ORC4, ORC6, PCNT, RBBP8, RNU4ATAC, TRAIP
Del Dup
NGS
Microcephaly-capillary malformation syndrome STAMBP
Sanger
Del Dup
Mitral valve prolapse 2 DCHS1
Del Dup
NGS
Mowat-Wilson syndrome ZEB2
Sanger
Del Dup
Muenke syndrome FGFR3
Sanger
Multiple epiphyseal dysplasia COMP
Sanger
Del Dup
NGS
Multiple epiphyseal dysplasia (MED) NGS panel COL2A1, COL9A1, COL9A2, COL9A3, COMP, MATN3, SLC26A2
Del Dup
NGS
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects B3GAT3
Sanger
Del Dup
Multiple pterygium syndrome, Escobar variant CHRNG
Sanger
Del Dup
Multiple pterygium syndrome, lethal type CHRNA1, CHRND, CHRNG
Sanger
Del Dup
Multiple pterygium syndrome, lethal type - CHRNA1 CHRNA1
Sanger
Del Dup
Multiple pterygium syndrome, lethal type - CHRND CHRND
Sanger
Del Dup
Multiple pterygium syndrome, lethal type - CHRNG CHRNG
Sanger
Del Dup
Multiple self-healing squamous epithelioma TGFBR1
Sanger
Del Dup
Myhre syndrome SMAD4
Sanger

N

Nail-patella syndrome LMX1B
Sanger
Neu-Laxova syndrome 1 PHGDH
Sanger
Del Dup
Neu-Laxova syndrome 1 / 2 PHGDH, PSAT1
Sanger
Del Dup
Neu-Laxova syndrome 2 PSAT1
Sanger
Del Dup
Neurofibromatosis and related disorders NGS panel MLH1, MSH2, MSH6, NF1, NF2, PMS2, SPRED1
Del Dup
NGS
Neurofibromatosis type I NF1
Del Dup
NGS
Neutropenia, severe congenital, X-linked WAS
Sanger
Del Dup
Next Generation Sequencing (Any of the NGS panel Genes)
NGS
NKX2-5 related heart malformations NKX2-5
Sanger
Del Dup
Noonan spectrum disorder NGS panel BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RAF1, RIT1, SHOC2, SOS1, SOS2, SPRED1
Del Dup
NGS
Norrie disease NDP
Sanger
Del Dup

O

Occipital horn syndrome ATP7A
Del Dup
NGS
Oculodentodigital dysplasia GJA1
Sanger
Del Dup
Odontoonychodermal dysplasia WNT10A
Sanger
Del Dup
Ohdo syndrome, SBBYS variant KAT6B
Sanger
Del Dup
Oligodontia - Selective tooth agenesis NGS panel AXIN2, EDA, LRP6, LTBP3, MSX1, PAX9, PTH1R, WNT10A, WNT10B
Del Dup
NGS
Omodysplasia 1 GPC6
Sanger
Del Dup
Opsismodysplasia INPPL1
Sanger
Del Dup
Orofaciodigital syndrome I OFD1
Del Dup
NGS
Osteoarthritis with mild chondrodysplasia COL2A1
Del Dup
NGS
Osteogenesis imperfecta core NGS panel COL1A1, COL1A2
Del Dup
NGS
Osteogenesis imperfecta NGS panel - Dominant ALPL, ANO5, COL1A1, COL1A2, IFITM5, P4HB, PLS3
Del Dup
NGS
Osteogenesis imperfecta NGS panel - Dominant & Recessive ALPL, ANO5, BMP1, COL1A1, COL1A2, CREB3L1, CRTAP, FKBP10, IFITM5, LRP5, P3H1, P4HB, PLOD2, PLS3, PPIB, SEC24D, SERPINF1, SERPINH1, SP7, SPARC, TAPT1, TMEM38B, WNT1
Del Dup
NGS
Osteogenesis imperfecta NGS panel - Recessive ALPL, BMP1, CREB3L1, CRTAP, FKBP10, LRP5, P3H1, PLOD2, PLS3, PPIB, SEC24D, SERPINF1, SERPINH1, SP7, SPARC, TAPT1, TMEM38B, WNT1
Del Dup
NGS
Osteogenesis imperfecta, PLS3 related PLS3
Del Dup
NGS
Osteogenesis imperfecta, type IX PPIB
Sanger
Del Dup
Osteogenesis imperfecta, type V IFITM5
Sanger
Del Dup
Osteogenesis imperfecta, type VI SERPINF1
Sanger
Del Dup
Osteogenesis imperfecta, type VII CRTAP
Sanger
Del Dup
Osteogenesis imperfecta, type VIII P3H1
Sanger
Del Dup
Osteogenesis imperfecta, type X SERPINH1
Sanger
Del Dup
Osteogenesis imperfecta, type XI FKBP10
Sanger
Del Dup
Osteogenesis imperfecta, type XII SP7
Sanger
Del Dup
Osteogenesis imperfecta, type XIII BMP1
Del Dup
NGS
Osteogenesis imperfecta, type XVI CREB3L1
Sanger
Del Dup
Osteogenesis imperfecta, type XVII SPARC
Sanger
Del Dup
Osteogenesis imperfecta, types I, II, III & IV COL1A1
Del Dup
NGS
Osteogenesis imperfecta, types I, II, III & IV COL1A2
Del Dup
NGS
Osteopathia striata with cranial sclerosis AMER1
Sanger
Del Dup
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
Del Dup
NGS
Osteopetrosis core NGS panel CLCN7, OSTM1, TCIRG1
Del Dup
NGS
Osteopetrosis NGS panel AMER1, CA2, CLCN7, CTSK, FAM20C, FERMT3, LEMD3, LRP5, OSTM1, PLEKHM1, SNX10, TCIRG1, TNFRSF11A, TNFSF11
Del Dup
NGS
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
Sanger
Del Dup
Osteopetrosis, autosomal recessive 6 PLEKHM1
NGS
Osteopetrosis, autosomal recessive 7 TNFRSF11A
Sanger
Del Dup
Osteoporosis-pseudoglioma syndrome LRP5
Del Dup
NGS
Otopalatodigital syndrome, type I / II FLNA
NGS
Otospondylomegaepiphyseal dysplasia COL11A2
Del Dup
NGS

P

Paget disease of bone 2 TNFRSF11A
Sanger
Del Dup
Paget disease of bone 3 SQSTM1
Sanger
Del Dup
Paget disease of bone 5 TNFRSF11B
Sanger
Del Dup
Paget disease of bone 6 ZNF687
Sanger
Del Dup
Paget disease of bone and related disorders NGS panel HNRNPA1, HNRNPA2B1, SQSTM1, TNFRSF11A, TNFRSF11B, VCP, ZNF687
Del Dup
NGS
Pallister-Hall syndrome GLI3
Del Dup
NGS
Parastremmatic dwarfism TRPV4
Sanger
Del Dup
Parkes Weber syndrome RASA1
Del Dup
NGS
Periventricular nodular heterotopia 1, FLNA
NGS
Pfeiffer syndrome FGFR1, FGFR2
Sanger
Phosphoglycerate dehydrogenase deficiency PHGDH
Sanger
Del Dup
Phosphoserine aminotransferase deficiency PSAT1
Sanger
Del Dup
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, RASGRP2, TBXA2R, TBXAS1, VWF, WAS, WIPF1
Del Dup
NGS
Platyspondylic lethal skeletal dysplasia, Torrance type COL2A1
Sanger
Del Dup
NGS
Pneumothorax, primary spontaneous FLCN
Sanger
Del Dup
Polydactyly, preaxial IV & postaxial, type A1 GLI3
Del Dup
NGS
Popliteal pterygium syndrome IRF6
Sanger
Del Dup
Popliteal pterygium syndrome, lethal type RIPK4
Sanger
Del Dup
Porencephaly 1 COL4A1
Del Dup
NGS
Porencephaly 2 COL4A2
Del Dup
NGS
Porencephaly NGS panel COL4A1, COL4A2
Del Dup
NGS
Postaxial acrofacial dysostosis DHODH
Sanger
Del Dup
Progressive pseudorheumatoid arthropathy of childhood WISP3
Sanger
Del Dup
Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome FLVCR2
Sanger
Del Dup
Pseudoachondroplasia COMP
Sanger
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
Pulmonary hypertension NGS panel ACVRL1, BMPR1B, BMPR2, CAV1, EIF2AK4, ENG, FOXF1, KCNK3, SMAD9
Del Dup
NGS
Pulmonary hypertension, primary, 1 BMPR2
Del Dup
NGS
Pulmonary hypertension, primary, 2 SMAD9
Sanger
Del Dup
Pulmonary hypertension, primary, 3 CAV1
Sanger
Del Dup
Pulmonary hypertension, primary, 4 KCNK3
Sanger
Del Dup
Pulmonary venoocclusive disease 1, autosomal dominant BMPR2
Del Dup
NGS
Pulmonary venoocclusive disease 2, autosomal recessive EIF2AK4
Del Dup
NGS
Pycnodysostosis CTSK
Sanger
Del Dup

R

Rhizomelic chondrodysplasia punctata type 1 PEX7
Sanger
Del Dup
Rhizomelic chondrodysplasia punctata, type 2 GNPAT
Del Dup
NGS
Rhizomelic chondrodysplasia punctata, type 3 AGPS
Sanger
Del Dup
Rickets, hypophosphatemic, autosomal dominant FGF23
Sanger
Del Dup
Rickets, hypophosphatemic, autosomal recessive, 1 DMP1
Sanger
Del Dup
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
Roberts syndrome ESCO2
Sanger
Del Dup
Robinow syndrome NGS panel DVL1, DVL3, ROR2, WNT5A
Del Dup
NGS
Robinow syndrome, autosomal dominant 1 WNT5A
Sanger
Del Dup
Robinow syndrome, autosomal dominant 2 DVL1
Sanger
Del Dup
Robinow syndrome, autosomal recessive ROR2
Sanger
Del Dup
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

S

Saethre-Chotzen syndrome FGFR3, TWIST1
Sanger
Del Dup
SC phocomelia syndrome ESCO2
Sanger
Del Dup
Scapuloperoneal spinal muscular atrophy TRPV4
Sanger
Del Dup
Schneckenbecken dysplasia, INPPL1 related INPPL1
Sanger
Del Dup
Schopf-Schulz-Passarge syndrome WNT10A
Sanger
Del Dup
Schwartz-Jampel syndrome, type 1 HSPG2
Del Dup
NGS
Sclerosteosis SOST
Sanger
Del Dup
Serpentine fibula-polycystic kidney syndrome NOTCH2
Del Dup
NGS
Severe achondroplasia with developmental delay and acanthosis nigricans FGFR3
Sanger
Short stature, idiopathic, X-linked SHOX
Sanger
Del Dup
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
Shprintzen-Goldberg craniosynostosis syndrome SKI
Sanger
Del Dup
Simpson-Golabi-Behmel syndrome GPC3
Sanger
Del Dup
Simpson-Golabi-Behmel syndrome, PIGA related PIGA
Sanger
Del Dup
Simpson-Golabi-Behmel syndrome, type 2 OFD1
Del Dup
NGS
Simpson-Golabi-Behmel, Sotos and Weaver syndrome NGS panel EZH2, GPC3, NFIX, NSD1, OFD1, PIGA
Del Dup
NGS
Skeletal dysplasia - short stature and congenital joint dislocation NGS panel B3GALT6, B3GAT3, CANT1, CHST3, FLNB, IMPAD1, KIF22, SLC26A2, XYLT1
Del Dup
NGS
Skeletal dysplasia ciliopathy NGS panel DYNC2H1, EVC, EVC2, IFT122, IFT140, IFT172, IFT43, IFT80, KIAA0586, NEK1, TTC21B, WDR19, WDR34, WDR35, WDR60
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
Del Dup
NGS
Skeletal dysplasia core NGS panel ALPL, COL1A1, COL1A2, COL2A1, FGFR3, INPPL1, NKX3-2, SLC26A2, SOX9, TRIP11
Del Dup
NGS
Skeletal dysplasia extended NGS panel ARSE, COL10A1, COL11A1, COL11A2, DDR2, EBP, FLNB, HSPG2, LBR, LIFR, MMP13, MMP9, NSDHL, PEX7, PTH1R, RMRP, SBDS, SLC35D1, TRPV4
Del Dup
NGS
Smith-Lemli-Opitz syndrome DHCR7
Sanger
Smith-McCort dysplasia DYM
Del Dup
NGS
Snyder-Robinson mental retardation syndrome SMS
Sanger
Sotos syndrome 1 NSD1
Del Dup
NGS
Sotos syndrome 2 NFIX
Sanger
Del Dup
Spinal muscular atrophy, distal, congenital nonprogressive TRPV4
Sanger
Del Dup
Spinal muscular atrophy, distal, X-linked 3 ATP7A
Del Dup
NGS
Spondylo-Epi-Metaphyseal dysplasias NGS panel ACP5, B3GALT6, B3GAT3, BGN, 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, NKX3-2, PAM16, PAPSS2, PCYT1A, PTH1R, RMRP, RNU4ATAC, RSPRY1, RUNX2, SBDS, SLC26A2, SMARCAL1, TRAPPC2, TRPV4, WISP3, XYLT1
Del Dup
NGS
Spondylo-megaepiphyseal-metaphyseal dysplasia NKX3-2
Sanger
Del Dup
Spondylocarpotarsal synostosis syndrome FLNB
Del Dup
NGS
Spondylocostal dysostosis 1, autosomal recessive DLL3
Sanger
Del Dup
Spondylocostal dysostosis 2, autosomal recessive MESP2
Sanger
Del Dup
Spondylocostal dysostosis 3, autosomal recessive LFNG
Sanger
Del Dup
Spondylocostal dysostosis 4, autosomal recessive HES7
Sanger
Del Dup
Spondylocostal dysostosis 5, autosomal dominant TBX6
Sanger
Del Dup
Spondylocostal dysostosis 6, autosomal recessive RIPPLY2
Sanger
Del Dup
Spondylocostal dysostosis NGS panel DLL3, HES7, LFNG, MESP2, RIPPLY2, TBX6
Del Dup
NGS
Spondyloenchondrodysplasia with immune dysregulation ACP5
Sanger
Del Dup
Spondyloepimetaphyseal dysplasia with joint laxity NGS Panel B3GALT6, KIF22
Del Dup
NGS
Spondyloepimetaphyseal dysplasia with joint laxity type 2 KIF22
Sanger
Del Dup
NGS
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures B3GALT6
Sanger
Spondyloepimetaphyseal dysplasia, Missouri type MMP13
Sanger
Del Dup
Spondyloepimetaphyseal dysplasia, Strudwick type COL2A1
Del Dup
NGS
Spondyloepiphyseal dysplasia congenita COL2A1
Del Dup
NGS
Spondyloepiphyseal dysplasia tarda, X-linked TRAPPC2
Sanger
Del Dup
Spondyloepiphyseal dysplasia with congenital joint dislocations CHST3
Sanger
Del Dup
Spondyloepiphyseal dysplasia, Maroteaux type TRPV4
Sanger
Del Dup
Spondylometaphyseal dysplasia with cone-rod dystrophy PCYT1A
Sanger
Del Dup
Spondylometaphyseal dysplasia, Kozlowski type TRPV4
Sanger
Del Dup
Spondyloocular syndrome XYLT2
Sanger
Del Dup
Spondyloperipheral dysplasia COL2A1
Sanger
Del Dup
NGS
Steel syndrome COL27A1
Sanger
Del Dup
NGS
Stickler syndrome core NGS panel COL11A1, COL11A2, COL2A1
Del Dup
NGS
Stickler syndrome NGS panel COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, 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
Stiff skin syndrome FBN1
Sanger
Stuve-Wiedemann syndrome LIFR
Del Dup
NGS
Supravalvular aortic stenosis ELN
Del Dup
NGS

T

Terminal osseous dysplasia FLNA
NGS
Thanatophoric dysplasia, type I / II FGFR3
Sanger
Del Dup
NGS
Three M syndrome 1 CUL7
Del Dup
NGS
Three M syndrome 2 OBSL1
Del Dup
NGS
Three M syndrome 3 CCDC8
Sanger
Del Dup
Three M syndrome NGS panel CCDC8, CUL7, OBSL1
Del Dup
NGS
Thrombocytopenia 1 WAS
Sanger
Del Dup
Thrombocytopenia and absent radius syndrome RBM8A
Sanger
Del Dup
Tooth agenesis, selective 4 WNT10A
Sanger
Del Dup
Tooth agenesis, selective, 1 MSX1
Sanger
Del Dup
Torg-Winchester syndrome MMP2
Sanger
Del Dup
Treacher Collins syndrome 1 TCOF1
Del Dup
NGS
Treacher Collins syndrome 2 POLR1D
Sanger
Del Dup
Treacher Collins syndrome 3 POLR1C
Sanger
Del Dup
Treacher Collins syndrome and related disorders NGS panel DHODH, EFTUD2, POLR1C, POLR1D, SF3B4, TCOF1
Del Dup
NGS
Trichodentoosseus syndrome DLX3
Sanger
Del Dup
Trichorhinophalangeal syndrome, type I / III TRPS1
Sanger
Del Dup

V

Van Buchem disease, type 2 LRP5
Del Dup
NGS
Van der Woude syndrome 1 IRF6
Sanger
Del Dup
Van der Woude syndrome 1 / 2 GRHL3, IRF6
Sanger
Del Dup
Van der Woude syndrome 2 GRHL3
Sanger
Del Dup
Van Maldergem syndrome 1 DCHS1
Del Dup
NGS
Vascular malformations NGS panel ACVRL1, BMPR2, CAV1, CCM2, EIF2AK4, ENG, FOXF1, GDF2, GLMN, KCNK3, KRIT1, PDCD10, PTEN, RASA1, SMAD4, SMAD9, TEK
Del Dup
NGS

W

Wagner vitreoretinopathy VCAN
Del Dup
NGS
Weaver syndrome EZH2
Del Dup
NGS
Weill-Marchesani syndrome 1 ADAMTS10
Del Dup
NGS
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
Wilson disease ATP7B
Del Dup
NGS
Wiskott-Aldrich syndrome WAS
Sanger
Del Dup
Witkop syndrome MSX1
Sanger
Del Dup
Wolcott-Rallison syndrome EIF2AK3
Del Dup
NGS
Wolman disease LIPA
Sanger
Del Dup

Z

Zimmermann-Laband syndrome 1 KCNH1
Sanger
Del Dup
Zimmermann-Laband syndrome 1 / 2 ATP6V1B2, KCNH1
Sanger
Del Dup
Zimmermann-Laband syndrome 2 ATP6V1B2
Sanger
Del Dup

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