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Results: 1 to 20 of 22

Tests names and labsConditionsGenes, analytes, and microbesMethods

Optic atrophy 9, 616289, Autosomal recessive; OPA9 (Autosomal recessive isolated optic atrophy) (ACO2 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

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

Optic atrophy type 9

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • 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

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

Retinitis pigmentosa (WES based NGS panel of 189 genes, including CNV analysis)

CGC Genetics
Portugal
286189
  • C Sequence analysis of the entire coding region

Diseases of the posterior ocular segment (WES based NGS panel of 307 gene, including CNV analysis)

CGC Genetics
Portugal
495307
  • C Sequence analysis of the entire coding region

Infantile cerebellar-retinal degeneration ; Optic atrophy 9 (sequence analysis of ACO2 gene)

CGC Genetics
Portugal
21
  • C Sequence analysis of the entire coding region

Optic atrophy type 9

LifeLabs Genetics
Canada
11
  • C Sequence analysis of the entire coding region

Optic Atrophy , Panel Massive Sequencing 4 Genes

Reference Laboratory Genetics
Spain
54
  • C Sequence analysis of the entire coding region

Optic Atrophy and Early Glaucoma NGS Panel Sequencing Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
4034
  • C Sequence analysis of the entire coding region

Retinal Dystrophy Panel

Molecular Vision Laboratory
United States
372283
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 22

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