Clinical and research tests for C2608087 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Motor Neuropathy Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	8	26	D Deletion/duplication analysis C Sequence analysis of the entire coding region
HSPB1 - 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
Neuropathy, distal hereditary motor, type IIB, 608634, Autosomal dominant; HMN2B (Distal hereditary motor neuropathy type 2) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Neuropathy, distal hereditary motor, type IIB, 608634, Autosomal dominant; HMN2B (Distal hereditary motor neuropathy type 2) (HSPB1 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 University, School of Medicine United States	480	254	C Sequence analysis of the entire coding region
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
Invitae Hereditary Motor Neuropathy Panel Labcorp Genetics (formerly Invitae) LabCorp United States	60	26	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Neuropathies Panel Labcorp Genetics (formerly Invitae) LabCorp United States	201	96	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Charcot-Marie Tooth Disease Comprehensive Panel Labcorp Genetics (formerly Invitae) LabCorp United States	123	52	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Distal Hereditary Motor Neuropathy Panel PreventionGenetics, part of Exact Sciences United States	30	22	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Heat Shock 27 kDa Protein-Related Disorders via the HSPB1 Gene PreventionGenetics, part of Exact Sciences United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
HSPB1 Institute for Human Genetics University Medical Center Freiburg Germany	2	1	C Sequence analysis of the entire coding region
Predominantly distal muscular atrophy Genologica Medica Spain	43	18	C Sequence analysis of the entire coding region
Spinal muscular atrophy panel. 30-gene NGS panel. Genologica Medica Spain	65	30	C Sequence analysis of the entire coding region
HSPB1 - Gene sequencing Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center Netherlands	2	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 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
Paroxysmal Extreme Pain Disorder NGS Panel Fulgent Genetics United States	185	53	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neuromuscular Disorders NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	233	144	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.