Clinical and research tests for 3735 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
KARS1 Gene Deafness, autosomal recessive type 89 NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
KARS1 Gene CMTRIB NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
Distal Weakness Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	1	211	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Peripheral Neuropathy Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	1	186	D Deletion/duplication analysis C Sequence analysis of the entire coding region
OtoSCOPE v9 Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics United States	287	218	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Motor and Sensory Neuropathy Panel Mayo Clinic Laboratories Mayo Clinic United States	2	87	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Genomic Unity® Hearing Loss Disorders Analysis Variantyx, Inc. United States	1	318	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
AudioloGene Hearing Loss Panel Mayo Clinic Laboratories Mayo Clinic United States	1	200	C Sequence analysis of the entire coding region
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
KARS1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	3	1	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
CentoMito Comprehensive Panel Centogene AG - the Rare Disease Company Germany	406	414	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neuromuscular Panel Centogene AG - the Rare Disease Company Germany	325	316	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
CentoHear Panel Centogene AG - the Rare Disease Company Germany	203	194	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Charcot-Marie-Tooth disease Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	1	42	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Charcot-Marie-Tooth disease Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	1	42	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Charcot-Marie-Tooth disease NGS panel HNL Genomics Connective Tissue Gene Tests United States	1	42	C Sequence analysis of the entire coding region T Targeted variant analysis
Mitochondrial Disorders Panel (Nuclear Genes Only) PreventionGenetics, part of Exact Sciences United States	292	253	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Charcot-Marie-Tooth disease, recessive intermediate, B, 613641, Autosomal recessive (Autosomal recessive intermediate Charcot-Marie-Tooth disease type B) (KARS 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
Deafness, autosomal recessive 89, 613916, Autosomal recessive; DFNB89 (Autosomal recessive non-syndromic sensorineural deafness type DFNB) (KARS 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

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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.