Clinical and research tests for 9094 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
UNC119 Gene Cone-rod dystrophy NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
Cone-rod dystrophy (UNC119 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
Immunodeficiency 13, 615518, Autosomal dominant; IMD13 (Idiopathic CD4 lymphocytopenia) (UNC119 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
Immunodeficiency 13, 615518, Autosomal dominant; IMD13 (Idiopathic CD4 lymphocytopenia) (UNC119 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
Invitae Inherited Retinal Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	486	293	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cone-rod and cone dystrophy panel Amplexa Genetics Amplexa Genetics A/S Denmark	1	30	S Mutation scanning of the entire coding region
MVL Vision Panel Molecular Vision Laboratory United States	342	268	C Sequence analysis of the entire coding region
Cone-Rod Dystrophy via the UNC119 Gene PreventionGenetics, part of Exact Sciences United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Cone-Rod Dystrophy Panel PreventionGenetics, part of Exact Sciences United States	37	35	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Genomic Unity® Retinal Disorders Analysis Variantyx, Inc. United States	1	394	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Diseases of the posterior ocular segment (WES based NGS panel of 307 gene, including CNV analysis) CGC Genetics Unilabs Portugal	1	307	C Sequence analysis of the entire coding region
Immune Disorders Panel CGC Genetics Unilabs Portugal	1	385	C Sequence analysis of the entire coding region
Cone-rod dystrophy (sequence analysis of UNC119 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Hereditary Retinopathy Panel Mendelics Brazil	1	321	C Sequence analysis of the entire coding region
Immunodeficiencies and Immunologic Diseases Panel (Complete) Mendelics Brazil	1	397	C Sequence analysis of the entire coding region
Comprehensive Eye panel Clinical Biochemical Genetics Diagnostic Laboratory University Of Miami Miller School Of Medicine United States	1	695	C Sequence analysis of the entire coding region
Severe Combined Immunodeficiency Asper Biogene Asper Biogene LLC Estonia	61	43	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
Immunodeficiency: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	69	60	C Sequence analysis of the entire coding region

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IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.