Clinical and research tests for CHUK - Genetic Testing Registry (GTR) - NCBI

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Results: 1 to 19 of 19

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Invitae Skeletal Disorders Panel Invitae United States	624	349	D Deletion/duplication analysis
Invitae Limb and Digital Malformations Panel Invitae United States	356	177	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Polydactyly and Syndactyly Panel PreventionGenetics, part of Exact Sciences United States	320	231	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Cocoon syndrome, 613630 (Fetal encasement syndrome) (CHUK gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Cocoon syndrome, 613630 (Fetal encasement syndrome) (CHUK gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Syndactyly Panel PreventionGenetics, part of Exact Sciences United States	220	128	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
ARTHROGRIPOSIS PANEL Laboratorio de Genetica Clinica SL Spain	1	245	E Sequence analysis of select exons
SKELETAL DYSPLASIAS PANEL Laboratorio de Genetica Clinica SL Spain	1	643	E Sequence analysis of select exons
Arthrogryposis panel. NGS panel of 69 genes. Genologica Medica Spain	135	69	C Sequence analysis of the entire coding region
Cocoon syndrome: Full gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	1	1	C Sequence analysis of the entire coding region
Popliteal pterygium syndrome, Bartsocas-Papas type 2: Full gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	1	1	C Sequence analysis of the entire coding region
Genomic Unity® Custom Analysis Variantyx, Inc. United States	1	4054	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Prenatal Known Familial Mutation GeneDx United States	1	1716	D Deletion/duplication analysis T Targeted variant analysis
Custom XomeDxSlice (2-150 Genes, Proband Only) GeneDx United States	1	1718	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Microcephaly Xpanded Panel GeneDx United States	1	877	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Mental retardation - different panels Institute of Human Genetics Cologne University Germany	7	2536	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Arthrogryposes Panel Blueprint Genetics Finland	1	69	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CHUK Single Gene Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5129	4672	D Deletion/duplication analysis C Sequence analysis of the entire coding region

Results: 1 to 19 of 19

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