Browse CTGT's catalogue of NGS disorders and panels by disorder name.

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Saethre-Chotzen syndrome FGFR3, TWIST1
Del Dup
NGS
Scapuloperoneal spinal muscular atrophy TRPV4
Del Dup
NGS
Schneckenbecken dysplasia, INPPL1 related INPPL1
Del Dup
NGS
Schopf-Schulz-Passarge syndrome WNT10A
Del Dup
NGS
Schwartz-Jampel syndrome, type 1 HSPG2
Del Dup
NGS
Sclerosteosis SOST
Del Dup
NGS
Serpentine fibula-polycystic kidney syndrome NOTCH2
Del Dup
NGS
Short QT syndrome NGS panel (6 genes) CACNA1C, CACNA2D1, CACNB2, KCNH2, KCNJ2, KCNQ1
NGS
Del Dup
Short stature with endocrinopathy NGS panel (14 genes) BTK, GH1, GHR, GHRHR, GHSR, HESX1, IGF1, IGF1R, LHX3, LHX4, OTX2, POU1F1, PROP1, SOX3
NGS
Del Dup
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies BMP2
Del Dup
NGS
Short stature, idiopathic, X-linked SHOX
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
Shprintzen-Goldberg craniosynostosis syndrome SKI
Del Dup
NGS
Simpson-Golabi-Behmel syndrome, PIGA related PIGA
NGS
Del Dup
Simpson-Golabi-Behmel syndrome, type 1 GPC3
Del Dup
NGS
Simpson-Golabi-Behmel syndrome, type 2 OFD1
Del Dup
NGS
Skeletal dysplasia ciliopathy NGS panel (24 genes) C21orf2, C2CD3, CEP120, DYNC2H1, DYNC2LI1, EVC, EVC2, ICK, IFT122
NGS
Del Dup

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