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Results: 1 to 20 of 39

Tests names and labsConditionsGenes, analytes, and microbesMethods

Infantile cerebellar-retinal degeneration, 614559, Autosomal recessive; ICRD (Infantile cerebellar-retinal degeneration) (ACO2 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Genetic Diagnosis and Research Centre
Turkey
11
  • C Sequence analysis of the entire coding region

Infantile cerebellar-retinal degeneration, 614559, Autosomal recessive; ICRD (Infantile cerebellar-retinal degeneration) (ACO2 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Genetic Diagnosis and Research Centre
Turkey
11
  • C Sequence analysis of the entire coding region

Cerebellar-retinal degeneration, infantile

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

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
7851205
  • C Sequence analysis of the entire coding region

Invitae Nuclear Mitochondrial Disorders Panel

Invitae
United States
394319
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Neurometabolic Disorders Panel

Invitae
United States
351249
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel

Invitae
United States
681436
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Mitochondrial Disorders Panel (Nuclear Genes Only)

PreventionGenetics
United States
290251
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Inherited Retinal Disorders Panel

Invitae
United States
486293
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

ACO2 - Mitochondrial aconitase deficiency - Infantile cerebellar-retinal degeneration

Translational Metabolic Laboratory Radboud University Medical Centre
Netherlands
21
  • C Sequence analysis of the entire coding region

Ataxia Exome

Genetic Services Laboratory University of Chicago
United States
289481
  • C Sequence analysis of the entire coding region

Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Panel

PreventionGenetics
United States
338321
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Infantile Cerebellar-Retinal Degeneration the ACO2 Gene

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

Optic Atrophy Panel

PreventionGenetics
United States
1716
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
843637
  • D Deletion/duplication analysis

Mitochondrial genome sequencing

Molecular Vision Laboratory
United States
531339
  • C Sequence analysis of the entire coding region

ACO2

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

Mitochondrial diseases (WES based NGS panel of 268 genes, including CNV analysis)

CGC Genetics
Portugal
224268
  • C Sequence analysis of the entire coding region

Hereditary ataxias (WES based NGS panel of 214 genes, including CNV analysis)

CGC Genetics
Portugal
300214
  • C Sequence analysis of the entire coding region

Hereditary optic neuropathy (WES based NGS panel of 36 genes, including CNV analysis)

CGC Genetics
Portugal
5936
  • C Sequence analysis of the entire coding region

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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