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Results: 1 to 20 of 28

Tests names and labsConditionsGenes, analytes, and microbesMethods

MATR3 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoNeuro Panel

Centogene AG - the Rare Disease Company
Germany
18861858
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neuromuscular Panel

Centogene AG - the Rare Disease Company
Germany
325316
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Amyotrophic Lateral Sclerosis (ALS) / Dementia Panel

Centogene AG - the Rare Disease Company
Germany
6466
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD) Panel

PreventionGenetics, part of Exact Sciences
United States
4839
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Amyotrophic Lateral Sclerosis (ALS) Panel

PreventionGenetics, part of Exact Sciences
United States
3632
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Amyotrophic lateral sclerosis 21, 606070, Autosomal dominant; ALS21 (Amyotrophic lateral sclerosis) (MATR3 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

NeuromuscularZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
480254
  • C Sequence analysis of the entire coding region

Comprehensive Neuromuscular Panel

PreventionGenetics, part of Exact Sciences
United States
183142
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Comprehensive Myopathy Panel

Invitae
United States
14370
  • D Deletion/duplication analysis

Invitae Comprehensive Neuromuscular Disorders Panel

Invitae
United States
353208
  • D Deletion/duplication analysis

Distal Myopathy Panel

PreventionGenetics, part of Exact Sciences
United States
2121
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Distal Myopathy 2 via the MATR3 Gene

PreventionGenetics, part of Exact Sciences
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

MATR3

Institute for Human Genetics University Medical Center Freiburg
Germany
11
  • 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
3030
  • I Microsatellite instability testing (MSI)
  • C Sequence analysis of the entire coding region

Amyotrophic Lateral Sclerosis NGS Panel

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
2530
  • C Sequence analysis of the entire coding region

Congenital Myopathy and Distal Myopathy NGS panel

Asper Biogene Asper Biogene LLC
Estonia
7841
  • 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
233144
  • C Sequence analysis of the entire coding region

Amyotrophic Lateral Sclerosis

Asper Biogene Asper Biogene LLC
Estonia
2222
  • C Sequence analysis of the entire coding region

Distal Myopathy Advanced Sequencing Evaluation

Athena Diagnostics Inc
United States
2717
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 28

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.