Clinical and research tests for C2750090 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
AARS1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	4	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Charcot-Marie-Tooth disease, axonal, type 2N, 613287, Autosomal dominant; CMT2N (Autosomal dominant Charcot-Marie-Tooth disease type 2N) (AARS 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
Atrial fibrillation NGS test HNL Genomics Connective Tissue Gene Tests United States	22	19	C Sequence analysis of the entire coding region T Targeted variant analysis
Atrial fibrillation Comprehensive test HNL Genomics Connective Tissue Gene Tests United States	22	19	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Atrioventricular block NGS test HNL Genomics Connective Tissue Gene Tests United States	9	8	C Sequence analysis of the entire coding region T Targeted variant analysis
Atrioventricular block Comprehensive test HNL Genomics Connective Tissue Gene Tests United States	9	8	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Atrial fibrillation Deletion / Duplication test HNL Genomics Connective Tissue Gene Tests United States	22	19	D Deletion/duplication analysis C Sequence analysis of the entire coding region
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 - Axonal Neuropathy Panel PreventionGenetics United States	46	37	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
Distal Hereditary Motor Neuropathy Panel PreventionGenetics United States	30	22	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Spinal muscular atrophy panel. 30-gene NGS panel. Genologica Medica Spain	65	30	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
Spinal Muscular Atrophy NGS Panel Fulgent Genetics United States	93	29	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.