Test Catalogue by NGS Panel

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