Test Catalogue by Disease Group | Connective Tissue Gene Tests

Browse CTGT's test catalogue, including NGS panels, by disease group.

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Abnormal Mineralization Disorders
Abnormal mineralization disorders NGS panel	ALPL, ANKH, CASR, CLCN5, CYP27B1, DMP1, ENPP1, FAH, FGF23, OCRL, PHEX, SLC34A1, SLC34A3, SLC9A3R1, VDR	Del Dup NGS
Chondrocalcinosis 2	ANKH	Del Dup NGS
Hyperphosphatemic familial tumoral calcinosis - FGF23	FGF23	Del Dup NGS Sanger
Hyperphosphatemic familial tumoral calcinosis - GALNT3	GALNT3	Sanger Del Dup NGS
Hyperphosphatemic familial tumoral calcinosis NGS panel	FGF23, GALNT3, KL	Del Dup NGS
Hypophosphatasia, infantile, childhood & adult types	ALPL	Del Dup NGS Sanger
Rickets, hypophosphatemic, autosomal dominant	FGF23	Sanger Del Dup NGS
Rickets, hypophosphatemic, autosomal recessive, 1	DMP1	Del Dup NGS
Rickets, hypophosphatemic, autosomal recessive, 2	ENPP1	Del Dup NGS
Rickets, hypophosphatemic, X-linked dominant	PHEX	Del Dup NGS
Rickets, vitamin D-dependent type I	CYP27B1	Del Dup NGS