Clinical and research tests for C3151897 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel Otogenetics United States	123	129	E Sequence analysis of select exons
Mitochondrial Genome Sequencing and Depletion/Integrity Panel Molecular Genetics Laboratory London Health Sciences Centre Canada	47	52	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Mitochondrial Non Syndromic Hearing Loss and Deafness Molecular Genetics and Cytogenetics, Clinical Laboratory Service RED DE SALUD UC CHRISTUS Chile	1	4	T Targeted variant analysis
OtoSCOPE v9 Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics United States	288	218	D Deletion/duplication analysis C Sequence analysis of the entire coding region
mtDNA - mitochondriopathy (deafness) Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	2	1	C Sequence analysis of the entire coding region
mtRNR1 gene sequencing for hearing loss Molecular Diagnostics Children's Hospital of Wisconsin United States	2	3	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
MT-TH. Complete sequencing IGENOMIX Spain	1	1	C Sequence analysis of the entire coding region
MT-CO1. Complete sequencing IGENOMIX Spain	1	1	C Sequence analysis of the entire coding region
MTTH. Complete sequencing IGENOMIX Spain	1	1	C Sequence analysis of the entire coding region
MT-TS1. Complete sequencing IGENOMIX Spain	1	1	C Sequence analysis of the entire coding region
MTCO1. Complete sequencing IGENOMIX Spain	1	1	C Sequence analysis of the entire coding region
OtoGenome Test for Hearing Loss (110 Genes) Laboratory for Molecular Medicine Mass General Brigham Personalized Medicine United States	23	109	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Mitochondrial genome sequencing Molecular Vision Laboratory United States	526	339	C Sequence analysis of the entire coding region
mtDNA Targeted Analysis: Known Familial Mutation Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	11	28	T Targeted variant analysis
mtDNA Targeted Analysis with Heteroplasmy: Known Familial Mutation Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	11	28	T Targeted variant analysis
Common 29 mtDNA Variant Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	9	17	T Targeted variant analysis
Expanded 93 mtDNA Variant Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	11	28	T Targeted variant analysis
Mitochondrial dealfness (mutation T1095C, A1555G, A3243G, A7445G, 7472insC, T7510C and T7511C) Unilabs Genetics CGC Genetics Portugal	1	1	C Sequence analysis of the entire coding region
Congenital mitochondrial deafness (961delT/insC mutation on MTRNR1 gene) Unilabs Genetics CGC Genetics Portugal	1	1	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.