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

A

Ablepharon-macrostomia syndrome TWIST2
Del Dup
NGS
Abnormal mineralization disorders NGS panel (15 genes) ALPL, ANKH, CASR, CLCN5, CYP27B1, DMP1, ENPP1, FAH, FGF23, OCRL, PHEX, SLC34A1, SLC34A3, SLC9A3R1, VDR
NGS
Del Dup
Achondrogenesis NGS panel (3 genes) COL2A1, SLC26A2, TRIP11
Del Dup
NGS
Achondrogenesis, type IA TRIP11
Del Dup
NGS
Achondrogenesis, type IB - SLC26A2 SLC26A2
Del Dup
NGS
Achondrogenesis, type II / Hypochondrogenesis COL2A1
NGS
Del Dup
Achondroplasia / Hypochondroplasia FGFR3
Del Dup
NGS
Acrofacial dysostosis 1, Nager type SF3B4
Del Dup
NGS
Acromelic frontonasal dysostosis ZSWIM6
Del Dup
NGS
Acromesomelic dysplasia, Hunter-Thompson type GDF5
Del Dup
NGS
Acromesomelic dysplasia, Maroteaux type NPR2
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 (6 genes) ARHGAP31, DLL4, DOCK6, EOGT, NOTCH1, RBPJ
NGS
Del Dup
Alagille syndrome 1 JAG1
NGS
Del Dup
Alagille syndrome 2 NOTCH2
Del Dup
NGS
Alagille syndrome NGS panel (3 genes) ATP8B1, JAG1, NOTCH2
Del Dup
NGS
Alagille syndrome, ATP8B1 related ATP8B1
Del Dup
NGS
Alopecia universalis congenita and Atrichia with papular lesions HR
Del Dup
NGS
Alport syndrome NGS panel (4 genes) COL4A3, COL4A4, COL4A5, COL4A6
NGS
Del Dup

Search Tests

TIP: enter a partial disorder name or gene to widen your search