Clinical and research tests for 8912 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
CACNA1H Gene Epilepsy, childhood absence type 6, susceptibility to NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
Comprehensive Nephrology Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	1	299	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Expanded Renal Disease Panel Invitae United States	693	388	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoNeuro Panel Centogene AG - the Rare Disease Company Germany	1886	1858	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Epilepsy Panel Centogene AG - the Rare Disease Company Germany	734	744	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Intellectual Disability Panel Centogene AG - the Rare Disease Company Germany	777	770	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Epilepsy, childhood absence, susceptibility to, 6, 611942; ECA6 (Childhood absence epilepsy) (CACNA1H 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
Hyperaldosteronism, familial, type IV, 617027, Autosomal dominant; HALD4 (CACNA1H 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 Progressive Renal Disease Panel Invitae United States	310	195	D Deletion/duplication analysis
Genomic Unity Epilepsy Analysis (includes STR analysis of 6 loci) Variantyx, Inc. United States	1	378	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
RenalZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	527	338	C Sequence analysis of the entire coding region
Primary Aldosteronism via the CACNA1H 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
Primary Aldosteronism Panel PreventionGenetics, part of Exact Sciences United States	4	4	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Genomic Unity® Renal Disorders Analysis Variantyx, Inc. United States	1	425	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Epilepsy Panel CGC Genetics Unilabs Portugal	1	832	C Sequence analysis of the entire coding region
Hypertension (WES based NGS panel of 15 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	15	C Sequence analysis of the entire coding region
Hyperaldosteronism, familial, type IV , Epilepsy, childhood absence type 6 (sequence analysis of CACNA1H gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
FAMILIAL HYPERALDOSTERONISM TYPE IV. Complete sequencing by NGS Laboratorio de Genetica Clinica SL Spain	1	1	E Sequence analysis of select exons
EPILEPSY EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	696	E Sequence analysis of select exons
MUSCULAR DISORDERS- EMCG GLOBAL EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	416	E Sequence analysis of select exons

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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.