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

Test Code Disorder or Panelsort descending Test Method
2138 Ablepharon-macrostomia syndrome
Sanger
2139 Ablepharon-macrostomia syndrome
Del Dup
2140 Ablepharon-macrostomia syndrome
Comp
5082 Abnormal mineralization disorders NGS panel
NGS
5083 Abnormal mineralization disorders NGS panel
Del Dup
5084 Abnormal mineralization disorders NGS panel
Comp
5139 Achondrogenesis NGS panel
NGS
5140 Achondrogenesis NGS panel
Del Dup
5141 Achondrogenesis NGS panel
Comp
1001 Achondrogenesis, type IA
NGS
1002 Achondrogenesis, type IA
Del Dup
1444 Achondrogenesis, type IA
Comp
1003 Achondrogenesis, type IB - SLC26A2
Sanger
1004 Achondrogenesis, type IB - SLC26A2
Del Dup
1445 Achondrogenesis, type IB - SLC26A2
Comp
1005 Achondrogenesis, type II / Hypochondrogenesis
NGS
1006 Achondrogenesis, type II / Hypochondrogenesis
Del Dup
1446 Achondrogenesis, type II / Hypochondrogenesis
Comp
1007 Achondroplasia / Hypochondroplasia
NGS
1756 Achondroplasia / Hypochondroplasia
Del Dup
1757 Achondroplasia / Hypochondroplasia
Comp
1008 Achondroplasia / Hypochondroplasia
Sanger
1988 Acrofacial dysostosis 1, Nager type
Sanger
1989 Acrofacial dysostosis 1, Nager type
Del Dup
1990 Acrofacial dysostosis 1, Nager type
Comp
2006 Acromelic frontonasal dysostosis
Sanger
2007 Acromelic frontonasal dysostosis
Del Dup
2008 Acromelic frontonasal dysostosis
Comp
1842 Acromesomelic dysplasia, Hunter-Thompson type
NGS
1843 Acromesomelic dysplasia, Hunter-Thompson type
Del Dup
1844 Acromesomelic dysplasia, Hunter-Thompson type
Comp
1010 Acromesomelic dysplasia, Maroteaux type
NGS
1011 Acromesomelic dysplasia, Maroteaux type
Del Dup
1447 Acromesomelic dysplasia, Maroteaux type
Comp
1012 Acromicric dysplasia
Sanger
1013 Adams-Oliver Syndrome 1
NGS
1014 Adams-Oliver Syndrome 1
Del Dup
1448 Adams-Oliver Syndrome 1
Comp
1449 Adams-Oliver syndrome 2
NGS
1450 Adams-Oliver syndrome 2
Del Dup
1451 Adams-Oliver syndrome 2
Comp
1452 Adams-Oliver syndrome 3
NGS
1453 Adams-Oliver syndrome 3
Del Dup
1454 Adams-Oliver syndrome 3
Comp
1455 Adams-Oliver syndrome 4
NGS
1456 Adams-Oliver syndrome 4
Del Dup
1457 Adams-Oliver syndrome 4
Comp
1936 Adams-Oliver syndrome 5
NGS
1937 Adams-Oliver syndrome 5
Del Dup
1938 Adams-Oliver syndrome 5
Comp

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