Connective Tissue Gene Tests
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Test Catalogue by Test Code
Disorder
Gene
Disease Group
Test Code
Panel
Browse CTGT's test catalogue, including NGS panels, by test code.
Test Code
Disorder / Panel Name
Test Code
Disorder or Panel
Test Method
6008
Spinal Muscular Atrophy Carrier Screening
Comp
6007
Phenylketonuria Carrier Screening
Comp
6006
Sickle Cell Anemia and Beta Thalassemia Carrier Screening
Comp
6005
Alpha Thalassemia Carrier Screening
Comp
6004
Fragile X Carrier Screening
PCR
6003
Duchenne/Becker Muscular Dystrophy Carrier Screening
Comp
6002
Cystic Fibrosis Carrier Screening
Comp
6001
Extended Carrier Screening panel
Comp
6000
Common Carrier Screening Panel
Comp
5435
Connective tissue disorder NGS panel
Comp
5434
Connective tissue disorder NGS panel
Del Dup
5433
Connective tissue disorder NGS panel
NGS
5432
Skeletal dysplasia and skeletal ciliopathy NGS panel
Comp
5431
Skeletal dysplasia and skeletal ciliopathy NGS panel
Del Dup
5430
Skeletal dysplasia and skeletal ciliopathy NGS panel
NGS
5429
Kabuki syndrome NGS panel
Comp
5428
Kabuki syndrome NGS panel
Del Dup
5427
Kabuki syndrome NGS panel
NGS
5426
Sotos syndrome and related disorders NGS panel
Comp
5425
Sotos syndrome and related disorders NGS panel
Del Dup
5424
Sotos syndrome and related disorders NGS panel
NGS
5423
Keratoconus and related disorders NGS panel
Comp
5422
Keratoconus and related disorders NGS panel
Del Dup
5421
Keratoconus and related disorders NGS panel
NGS
5420
Cerebral small vessel disease NGS panel
Comp
5419
Cerebral small vessel disease NGS panel
Del Dup
5418
Cerebral small vessel disease NGS panel
NGS
5417
CADASIL NGS panel
Comp
5416
CADASIL NGS panel
Del Dup
5415
CADASIL NGS panel
NGS
5414
Popliteal pterygium syndrome NGS panel
Comp
5413
Popliteal pterygium syndrome NGS panel
Del Dup
5412
Popliteal pterygium syndrome NGS panel
NGS
5411
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus NGS panel
Comp
5410
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus NGS panel
Del Dup
5409
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus NGS panel
NGS
5408
Lissencephaly and related disorders NGS panel
Comp
5407
Lissencephaly and related disorders NGS panel
Del Dup
5406
Lissencephaly and related disorders NGS panel
NGS
5405
Lissencephaly core NGS panel
Comp
5404
Lissencephaly core NGS panel
Del Dup
5403
Lissencephaly core NGS panel
NGS
5402
Hyperuricemic nephropathy, familial juvenile NGS panel
Comp
5401
Hyperuricemic nephropathy, familial juvenile NGS panel
Del Dup
5400
Hyperuricemic nephropathy, familial juvenile NGS panel
NGS
5399
Renal tubular dysgenesis NGS panel
Comp
5398
Renal tubular dysgenesis NGS panel
Del Dup
5397
Renal tubular dysgenesis NGS panel
NGS
5396
Nephronophthisis and related disorders NGS panel
Comp
5395
Nephronophthisis and related disorders NGS panel
Del Dup
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