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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

CentoNeuro Panel

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

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

Distal hereditary motor neuropathy and related disorders Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
624
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Distal hereditary motor neuropathy and related disorders Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
624
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Distal hereditary motor neuropathy and related disorders NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
624
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Spinal muscular atrophy, distal, autosomal recessive, 2, 605726, Autosomal recessive; DSMA2 (Distal hereditary motor neuropathy, Jerash type) (SIGMAR1 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

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

Spinal muscular atrophy, distal, autosomal recessive, 2, 605726, Autosomal recessive; DSMA2 (Distal hereditary motor neuropathy, Jerash type) (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

Fundamental Panel (CF and SMA)

Myriad Genetics, Inc.
United States
62
  • C Sequence analysis of the entire coding region

Distal hereditary motor neuropathy and related disorders Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
624
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Distal hereditary motor neuropathy and related disorders NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
624
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Distal hereditary motor neuropathy and related disorders Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
624
  • D Deletion/duplication analysis
  • 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

SIGMAR1

Institute for Human Genetics University Medical Center Freiburg
Germany
21
  • 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

Spinal muscular atrophy, distal, autosomal recessive, 2: Full gene sequencing

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
11
  • C Sequence analysis of the entire coding region

Nonprevalent Amyotrophic Lateral Sclerosis Advanced Sequencing Evaluation

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

Amyotrophic Lateral Sclerosis Advanced Evaluation

Athena Diagnostics Inc
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

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.