Clinical and research tests for C1842237 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
YARS1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Charcot-Marie-Tooth disease, dominant intermediate C, 608323, Autosomal dominant; CMTDIC (Autosomal dominant intermediate Charcot-Marie-Tooth disease type C) (YARS 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
NeuromuscularZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	480	254	C Sequence analysis of the entire coding region
Charcot-Marie-Tooth disease Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	50	43	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Charcot-Marie-Tooth disease NGS panel HNL Genomics Connective Tissue Gene Tests United States	50	43	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	50	43	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Charcot-Marie-Tooth Autosomal Dominant Intermediate C via the YARS1/YARS Gene PreventionGenetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Comprehensive Neuropathy Panel PreventionGenetics United States	82	71	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Charcot-Marie-Tooth - Comprehensive Panel PreventionGenetics United States	53	44	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Charcot-Marie-Tooth - Demyelinating Neuropathy Panel PreventionGenetics United States	34	24	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Charcot-Marie-Tooth disease, dominant intermediate C (CMTDIC, sequence analysis of YARS gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Charcot-Marie-Tooth Panel, Comprehensive CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	85	30	C Sequence analysis of the entire coding region
Charcot-Marie-Tooth disease: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	67	54	C Sequence analysis of the entire coding region
Charcot-Marie-Tooth Hereditary Neuropathy NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	76	54	C Sequence analysis of the entire coding region
Paroxysmal Extreme Pain Disorder NGS Panel Fulgent Genetics United States	185	53	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Motor Neuron Disorder and Related Diseases , Panel Massive Sequencing (NGS) 49 Genes Reference Laboratory Genetics Spain	60	49	C Sequence analysis of the entire coding region
Charcot-Marie-Tooth Disease, Panel Massive Sequencing (NGS) 32 Genes Reference Laboratory Genetics Spain	41	32	C Sequence analysis of the entire coding region
Hereditary Peripheral Neuropathy , Panel Massive Sequencing (NGS) 31 Genes Reference Laboratory Genetics Spain	41	31	C Sequence analysis of the entire coding region
CMT Advanced Evaluation - Nonprevalent Axonal Athena Diagnostics Inc United States	13	11	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CMT Advanced Evaluation - Nonprevalent Demyelinating Athena Diagnostics Inc United States	17	14	D Deletion/duplication analysis 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.