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
NGS
Del Dup
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
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 GPC3
Del Dup
NGS
Simpson-Golabi-Behmel syndrome, PIGA related PIGA
Del Dup
NGS
Simpson-Golabi-Behmel syndrome, type 2 OFD1
Del Dup
NGS
Skeletal dysplasia ciliopathy NGS panel (19 genes) C21orf2, CEP120, DYNC2H1, DYNC2LI1, EVC, EVC2, IFT122, IFT140, IFT172, IFT43, IFT52, IFT80, KIAA0586, NEK1, TTC21B, WDR19, WDR34, WDR35, WDR60
NGS
Del Dup
Skeletal dysplasia core & extended NGS panel (29 genes) ALPL, ARSE, COL10A1, COL11A1, COL11A2, COL1A1
Del Dup
NGS

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