Connective Tissue Gene Tests
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Test Catalogue by NGS Panel
Disorder
Gene
Disease Group
Test Code
Panel
NGS
Browse CTGT's catalogue of NGS disorders and panels by disorder name.
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A
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
Del Dup
NGS
Achondroplasia / Hypochondroplasia
FGFR3
NGS
Del Dup
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
NGS
Del Dup
Adams-Oliver syndrome 6
DLL4
NGS
Del Dup
Adams-Oliver syndrome NGS panel (
6 genes
)
ARHGAP31, DLL4, DOCK6, EOGT, NOTCH1, RBPJ
Del Dup
NGS
Alagille syndrome 1
JAG1
Del Dup
NGS
Alagille syndrome 2
NOTCH2
NGS
Del Dup
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
Del Dup
NGS
Alport syndrome, X-linked
COL4A5
Del Dup
NGS
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