Clinical and research tests for C1862939 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 40 of 74

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Amyotrophic lateral sclerosis, susceptibility to, 105400, Autosomal recessive, Autosomal dominant; ALS1 (Amyotrophic lateral sclerosis) (NEFH 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
Amyotrophic lateral sclerosis, susceptibility to, 105400, Autosomal recessive, Autosomal dominant (Amyotrophic lateral sclerosis) (PRPH 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
Amyotrophic lateral sclerosis 1, 105400, Autosomal recessive, Autosomal dominant (Amyotrophic lateral sclerosis) (SOD1 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
Ataxia Exome Genetic Services Laboratory University of Chicago United States	289	481	C Sequence analysis of the entire coding region
Invitae Frontotemporal Dementia Panel Invitae United States	29	13	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Hereditary Motor Neuropathy Panel Invitae United States	60	26	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Neuropathies Panel Invitae United States	201	96	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Charcot-Marie Tooth Disease Comprehensive Panel Invitae United States	123	52	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Amyotrophic Lateral Sclerosis/Motor Neuron Disease via the SOD1 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
SOD1 Institute of Human Genetics Medical University Innsbruck Austria	2	1	C Sequence analysis of the entire coding region
SOD1 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
Amyotrophic lateral sclerosis panel. 32-gene NGS panel. Genologica Medica Spain	66	32	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
SOD1 sequencing Duzen Laboratories Duzen BBAGUAS Turkey	1	1	C Sequence analysis of the entire coding region
Mitochondrial genome sequencing Molecular Vision Laboratory United States	526	339	C Sequence analysis of the entire coding region
SOD1 - Gene sequencing Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center Netherlands	1	1	C Sequence analysis of the entire coding region
Frontotemporal dementia and/or Amyotrophic Lateral Sclerosis: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	30	30	I Microsatellite instability testing (MSI) 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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Results: 21 to 40 of 74

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.