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Results: 1 to 20 of 20

Tests names and labsConditionsGenes, analytes, and microbesMethods

SIGMAR1 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Amyotrophic lateral sclerosis 16, juvenile, 614373, Autosomal recessive (Juvenile amyotrophic lateral sclerosis) (SIGMAR1 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

Invitae Hereditary Motor Neuropathy Panel

Invitae
United States
6026
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Neuropathies Panel

Invitae
United States
20196
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Distal Hereditary Motor Neuropathy Panel

PreventionGenetics, part of Exact Sciences
United States
3022
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

SIGMAR1

Institute for Human Genetics University Medical Center Freiburg
Germany
21
  • C Sequence analysis of the entire coding region

Amyotrophic lateral sclerosis 16 (sequence analysis of SIGMAR1 gene)

CGC Genetics Unilabs
Portugal
11
  • C Sequence analysis of the entire coding region

Dementia panel. NGS panel of 21 genes.

Genologica Medica
Spain
4421
  • 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

Frontotemporal Dementia , Panel Massive Sequencing (NGS) 8 Genes

Reference Laboratory Genetics
Spain
88
  • C Sequence analysis of the entire coding region

Motor Neuron Disorder and Related Diseases , Panel Massive Sequencing (NGS) 49 Genes

Reference Laboratory Genetics
Spain
6049
  • C Sequence analysis of the entire coding region

Amyotrophic Lateral Sclerosis (NGS Panel and Copy Number Analysis)

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

AMYOTROPHIC LATERAL SCLEROSIS (ALS) (AUTOSOMAL RECESSIVE)

Laboratorio de Genetica Clinica SL
Spain
55
  • 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

Nonprevalent Amyotrophic Lateral Sclerosis Advanced Sequencing Evaluation

Athena Diagnostics
United States
2415
  • C Sequence analysis of the entire coding region

Amyotrophic Lateral Sclerosis Advanced Evaluation

Athena Diagnostics
United States
1917
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Frontotemporal Dementia

Asper Biogene Asper Biogene LLC
Estonia
2920
  • C Sequence analysis of the entire coding region

SIGMAR1 Single Gene

Fulgent Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51294672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Amyotrophic Lateral Sclerosis NGS Panel

Fulgent Genetics
United States
8443
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 20

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.