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Results: 1 to 20 of 58

Tests names and labsConditionsGenes, analytes, and microbesMethods

MVL Vision Panel

Molecular Vision Laboratory
United States
13581028
  • C Sequence analysis of the entire coding region

SETX - 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

CentoVision Panel

Centogene AG - the Rare Disease Company
Germany
417413
  • 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

Ataxia / Spastic Paraplegia Comprehensive Panel

Centogene AG - the Rare Disease Company
Germany
451452
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ataxia / Spastic Paraplegia Panel

Centogene AG - the Rare Disease Company
Germany
442443
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Hereditary Amyotrophic Lateral Sclerosis, Frontotemporal Dementia and Alzheimer Disease Panel 

Invitae
United States
7233
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Episodic Ataxia Panel

PreventionGenetics, part of Exact Sciences
United States
6136
  • 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
4840
  • 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
3633
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Amyotrophic lateral sclerosis 4, juvenile, 602433, Autosomal dominant (Amyotrophic lateral sclerosis type 4) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Amyotrophic lateral sclerosis 4, juvenile, 602433, Autosomal dominant (Amyotrophic lateral sclerosis type 4) (SETX 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

Invitae Mendelian Disorders with Psychiatric Symptoms Panel

Invitae
United States
247163
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Autosomal Recessive Spinocerebellar Ataxia and Amyotrophic Lateral Sclerosis Type 4 via the SETX Gene

PreventionGenetics, part of Exact Sciences
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

SETX

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

Hereditary ataxias. NGS panel of 139 genes.

Genologica Medica
Spain
220139
  • C Sequence analysis of the entire coding region

Ataxia panel. NGS panel of 157 genes.

Genologica Medica
Spain
247156
  • C Sequence analysis of the entire coding region

Amyotrophic lateral sclerosis panel. 32-gene NGS panel.

Genologica Medica
Spain
6632
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 58

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.