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Results: 1 to 20 of 38

Tests names and labsConditionsGenes and analytesMethods

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
6021038
  • 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

Ataxia with Oculomotor Apraxia 1

(AC) Atlanta Center: Medical Neurogenetics, LLC.
United States
11
  • C Sequence analysis of the entire coding region

Ataxia with Oculomotor Apraxia NextGen Sequencing (NGS) 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 NextGen Sequencing (NGS) panel

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

TruGenome Predisposition Screen (Whole Genome Sequencing)

Illumina Clinical Services Laboratory Illumina
United States
15411578
  • C Sequence analysis of the entire coding region

APTX. Complete sequencing

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

MitoMet®Plus aCGH Analysis

Baylor Miraca Genetics Laboratories
United States
844637
  • 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

Ataxia, autosomal recessive and X-linked Panel

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

Comprehensive Epilepsy NGS Panel

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
3056447
  • 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

Ataxia with oculomotor apraxia (sequence analysis of APTX gene)

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

Single gene testing APTX

CeGaT GmbH
Germany
11
  • C Sequence analysis of the entire coding region

Hereditary ataxias (NGS panel for 44 genes)

CGC Genetics
Portugal
4344
  • C Sequence analysis of the entire coding region

Ataxia and differential diagnoses Panel

CeGaT GmbH
Germany
174204
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 38

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.