Clinical and research tests for C1861689 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
Invitae Limb and Digital Malformations Panel Invitae United States	367	178	D Deletion/duplication analysis C Sequence analysis of the entire coding region
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
Klippel-Feil syndrome 1, autosomal dominant, 118100, Autosomal dominant; KFS1 (Isolated Klippel-Feil syndrome) (GDF6 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Genetic Diagnosis and Research Centre 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 Genetic Diagnosis and Research Centre Turkey	1	1	C Sequence analysis of the entire coding region
Klippel-Feil Syndrome Panel PreventionGenetics United States	9	6	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Inherited Retinal Disorders Panel Invitae United States	486	293	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Anterior Segment Dysgenesis Disorders Panel PreventionGenetics United States	270	276	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
MVL Vision Panel Molecular Vision Laboratory United States	342	268	C Sequence analysis of the entire coding region
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 NGS panel HNL Genomics Connective Tissue Gene Tests United States	5	5	C Sequence analysis of the entire coding region T Targeted variant analysis
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
GDF3. Complete sequencing IGENOMIX Spain	1	1	C Sequence analysis of the entire coding region
MEOX1. Complete sequencing IGENOMIX Spain	1	1	C Sequence analysis of the entire coding region
GDF6. Complete sequencing IGENOMIX Spain	1	1	C Sequence analysis of the entire coding region
Klippel-Feil Syndrome via the GDF6 Gene PreventionGenetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Leber's congenital amaurosis 17 / Colobomatous microphtalmia / Isolated microphtalmia / Klippel-Feil syndrome type 1 / Multiple synostosis syndrome (deletions/duplications in GDF6 gene) Unilabs Genetics CGC Genetics Portugal	4	1	D Deletion/duplication analysis
Diseases of the posterior ocular segment (WES based NGS panel of 307 gene, including CNV analysis) Unilabs Genetics CGC Genetics Portugal	493	306	C Sequence analysis of the entire coding region

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