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Results: 1 to 20 of 39 (representing 21 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

Rapid microarray (CGH and SNP)

Allele Diagnostics
United States
247231
  • H Detection of homozygosity
  • D Deletion/duplication analysis
  • H Detection of homozygosity

Coenzyme Q10 Ubiquinone Deficiency Sequencing Panel

PreventionGenetics
United States
1012
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ataxia with Oculomotor Apraxia Sequencing Panel

PreventionGenetics
United States
33
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Early-Onset Ataxia with Oculomotor Apraxia Type 1 via the APTX Gene

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

Mitochondrial Genome Maintenance/Integrity Nuclear Genes Sequencing Panel

PreventionGenetics
United States
2722
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

APTX. Complete sequencing

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

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
845637
  • D Deletion/duplication analysis

nucSEEK® 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

Aprataxin (APTX) sequencing test

Neurogenetics Department Cyprus Institute of Neurology and Genetics
Cyprus
11
  • C Sequence analysis of the entire coding region

Comprehensive Metabolism Panel

Blueprint Genetics
Finland
14354
  • 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

Oculomotor Apraxia Ataxia Advanced Sequencing Evaluation

Athena Diagnostics Inc
United States
32
  • C Sequence analysis of the entire coding region

Ataxia, autosomal recessive and X-linked Panel

CeGaT GmbH
Germany
746
  • C Sequence analysis of the entire coding region

Comprehensive Epilepsy NGS Panel

Fulgent Genetics
United States
3053447
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ataxia

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
3432
  • C Sequence analysis of the entire coding region

Spinocerebellar ataxia

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
4337
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ataxia - oculomotor apraxia type 1

Bioarray
Spain
11
  • D Deletion/duplication analysis

Results: 1 to 20 of 39

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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