Clinical and research tests for C2673759 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Connexin 30 Center for Genetics at Saint Francis Saint Francis Hospital United States	2	1	T Targeted variant analysis
Carrier Screening - Comprehensive Panel (145 Genes) Genesys Diagnostics Genesys Diagnostics, Inc. United States	185	145	D Deletion/duplication analysis I Microsatellite instability testing (MSI) X Mutation scanning of select exons T Targeted variant analysis
CentoScreen Centogene US, LLC - The Rare Disease Company United States	316	314	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
CentoScreen Centogene AG - the Rare Disease Company Germany	316	314	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
GJB2 Regulatory Element Deletion Testing (GJB6-D13S1830 and GJB6-D13S1854) PreventionGenetics United States	7	1	T Targeted variant analysis
Hereditary Hearing Loss and Deafness Panel PreventionGenetics United States	356	211	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hearing Loss Panel Molecular Diagnostics Children's Hospital of Wisconsin United States	9	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Deafness, Autosomal Dominant 2B (DFNA2B) via the GJB3 Gene PreventionGenetics United States	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Deafness, Autosomal Dominant 3B (DFNA3B) and Deafness, Autosomal Recessive 1B (DFNB1B) via the GJB6 Gene PreventionGenetics United States	4	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
GJB6 Deletion Analysis Baylor Genetics United States	4	1	T Targeted variant analysis
GJB2 Sequence Analysis (Prenatal Diagnosis) Baylor Genetics United States	7	1	T Targeted variant analysis
GJB2 Sequence Analysis (Familial Mutation/Variant Analysis) Baylor Genetics United States	7	1	T Targeted variant analysis
Deafness, Autosomal Dominant 3A (DFNA3A) and Deafness, Autosomal Recessive 1A (DFNB1A) via the GJB2 Gene PreventionGenetics United States	6	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Connexin Hearing Loss Panel Center for Genetics at Saint Francis Saint Francis Hospital United States	2	2	C Sequence analysis of the entire coding region T Targeted variant analysis
Hereditary Hearing Loss Molecular Diagnostic Laboratory Diagnostic Services, Shared Health Manitoba Canada	1	2	C Sequence analysis of the entire coding region T Targeted variant analysis
DEAFNESS, AUTOSOMAL RECESSIVE 1A BioReference Laboratories United States	1	1	T Targeted variant analysis
Connexin 26 (GJB2) and 30 (GJB6) DNA Assay Molecular Genetics University of North Carolina Hospitals United States	1	2	C Sequence analysis of the entire coding region T Targeted variant analysis
Super Panel Plus NxGen MDx United States	116	117	D Deletion/duplication analysis E Sequence analysis of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
Super Panel 113 NxGen MDx United States	113	115	D Deletion/duplication analysis E Sequence analysis of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
Ashkenazi Jewish Diseases Asper Biogene Asper Biogene LLC Estonia	43	37	C Sequence analysis of the entire coding region T Targeted variant analysis

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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.