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

B

Barber-Say syndrome TWIST2
Del Dup
NGS
Bartter syndrome and related disorders NGS panel (9 genes) BSND, CASR, CLCNKA, CLCNKB, GNA11, KCNJ1, MAGED2, SLC12A1, SLC12A3
NGS
Del Dup
Basal cell nevus syndrome - 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 (3 genes) PTCH1, PTCH2, SUFU
Del Dup
NGS
Benign chronic pemphigus ATP2C1
Del Dup
NGS
Bent bone dysplasia syndrome FGFR2
Del Dup
NGS
Bethlem myopathy & Ullrich congenital muscular dystrophy NGS panel (4 genes) COL12A1, COL6A1, COL6A2, COL6A3
Del Dup
NGS
Birt-Hogg-Dube syndrome FLCN
Del Dup
NGS
Blepharocheilodontic syndrome NGS panel (2 genes) CDH1, CTNND1
Del Dup
NGS
Boomerang dysplasia FLNB
Del Dup
NGS
Brachyolmia type 3 TRPV4
Del Dup
NGS
Brain small vessel disease with or without ocular anomalies COL4A1
Del Dup
NGS
Branchiooculofacial syndrome TFAP2A
Del Dup
NGS
Brittle cornea syndrome 1 ZNF469
Del Dup
NGS
Brittle cornea syndrome 2 PRDM5
Del Dup
NGS
Brittle cornea syndrome NGS panel (2 genes) PRDM5, ZNF469
Del Dup
NGS
Bruck syndrome 2 PLOD2
Del Dup
NGS
Brugada syndrome and related disorders NGS panel (27 genes) ABCC9, ANK2, CACNA1C, CACNA2D1, CACNB2, CAV3, FGF12, GAA, GLA, GPD1L, HCN4, KCND2, KCND3, KCNE3, KCNE5, KCNH2
NGS
Del Dup

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