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 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 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, part of Exact Sciences United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Comprehensive Neuropathy Panel PreventionGenetics, part of Exact Sciences United States	82	71	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Charcot-Marie-Tooth (CMT) - Comprehensive Panel PreventionGenetics, part of Exact Sciences United States	91	83	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Charcot-Marie-Tooth - Demyelinating Neuropathy Panel PreventionGenetics, part of Exact Sciences United States	34	24	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Paroxysmal Extreme Pain Disorder NGS Panel Fulgent Genetics United States	185	53	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CMT Advanced Evaluation - Nonprevalent Axonal Athena Diagnostics United States	13	11	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CMT Advanced Evaluation - Nonprevalent Demyelinating Athena Diagnostics United States	17	14	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CMT Advanced Evaluation - Nonprevalent Athena Diagnostics United States	25	21	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Charcot-Marie-Tooth Disease Asper Biogene Asper Biogene LLC Estonia	89	74	D Deletion/duplication analysis C Sequence analysis of the entire coding region
YARS Single Gene Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Charcot Marie Tooth Disease Extended NGS Panel Fulgent Genetics United States	172	59	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CMT Advanced Evaluation - Demyelinating Athena Diagnostics United States	22	15	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CMT Advanced Evaluation - Axonal Athena Diagnostics United States	20	13	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CMT Advanced Evaluation - Comprehensive Athena Diagnostics United States	31	23	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CMT Advanced Evaluation - Dominant, Demyelinating Athena Diagnostics United States	10	6	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CMT Advanced Evaluation - Dominant Athena Diagnostics United States	18	13	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5129	4672	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.