Clinical and research tests for 601147 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
GDF6 Gene Klippel-Feil syndrome type 1, autosomal dominant NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
Genomic Unity® Hearing Loss Disorders Analysis Variantyx, Inc. United States	1	318	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
CentoVision Panel Centogene AG - the Rare Disease Company Germany	417	413	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoDysmorph Panel Centogene AG - the Rare Disease Company Germany	740	728	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Deafness Panel Invitae United States	405	219	D Deletion/duplication analysis
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
Microphthalmia/Anophthalmia/Coloboma Panel PreventionGenetics, part of Exact Sciences United States	73	55	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Klippel-Feil syndrome Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	5	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Klippel-Feil syndrome Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	5	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Klippel-Feil syndrome NGS panel HNL Genomics Connective Tissue Gene Tests United States	5	5	C Sequence analysis of the entire coding region T Targeted variant analysis
Leber congenital amaurosis and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	20	32	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Leber congenital amaurosis and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States	20	32	C Sequence analysis of the entire coding region T Targeted variant analysis
Leber congenital amaurosis and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	20	32	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Klippel-Feil syndrome 1, autosomal dominant, 118100, Autosomal dominant; KFS1 (Isolated Klippel-Feil syndrome) (GDF6 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
Klippel-Feil syndrome 1, autosomal dominant, 118100, Autosomal dominant; KFS1 (Isolated Klippel-Feil syndrome) (GDF6 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
Leber congenital amaurosis 17, 615360, Autosomal recessive; LCA17 (Leber congenital amaurosis) (GDF6 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
Microphthalmia, isolated 4, 613094; MCOP4 (Isolated anophthalmia-microphthalmia syndrome) (GDF6 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
Microphthalmia with coloboma 6, digenic, 613703 (Colobomatous microphthalmia) (GDF6 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

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