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Results: 1 to 20 of 45 (representing 24 labs)

Tests names and labsConditionsGenes and analytesMethods

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
7861205
  • C Sequence analysis of the entire coding region

Spastic ataxia Charlevoix-Saguenay type

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

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

PROCREA Genetic Laboratory PROCREA/Opmedic Group Inc.
Canada
11
  • T Targeted variant analysis

Ataxia Exome Panel

Genetic Services Laboratory University of Chicago
United States
287480
  • C Sequence analysis of the entire coding region

Hereditary Spastic Paraplegia Exome Panel

Genetic Services Laboratory University of Chicago
United States
1956
  • C Sequence analysis of the entire coding region

qCarrier Plus

Quantitative Genomic Medicine Laboratories, SL
Spain
328300
  • C Sequence analysis of the entire coding region

SACS. NextGeneDx. Complete sequencing by NGS

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

SACS. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) via the SACS Gene

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

nucSEEKĀ® Comprehensive Sequence Analysis Of The Nuclear Mitochondrial Exome

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
560420
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Autosomal Recessive Spastic Ataxia of the Charlevoix-Saguenay

Molecular Diagnostics Laboratory Hospital Sainte-Justine
Canada
11
  • T Targeted variant analysis

GeneAware Complete Panel Version 2 (Male)

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
164149
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

GeneAware Complete Panel Version 2 (Female)

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
175159
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hereditary Spastic Paraplegia Spotlight Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
8658
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ataxia, Comprehensive Evaluation

Athena Diagnostics Inc
United States
4442
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ataxia, Complete Recessive Evaluation

Athena Diagnostics Inc
United States
2118
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ataxia, Supplemental Recessive Evaluation

Athena Diagnostics Inc
United States
2017
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

HSP, Complete Recessive Evaluation

Athena Diagnostics Inc
United States
1812
  • C Sequence analysis of the entire coding region

HSP, Supplemental Recessive Evaluation

Athena Diagnostics Inc
United States
159
  • C Sequence analysis of the entire coding region

HSP, Supplemental Sporadic Evaluation

Athena Diagnostics Inc
United States
2422
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 45

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.

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