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Results: 21 to 40 of 45

Tests names and labsConditionsGenes, analytes, and microbesMethods

Neuro-ophthalmology panel. NGS panel of 38 genes.

Genologica Medica
Spain
7538
  • 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

Early Infantile Epileptic Encephalopathy Sequencing Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
11486
  • 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

Cerebellar-retinal degeneration, infantile

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

Retinopathy and Optic Atrophy NGS Panel

Fulgent Genetics
United States
563241
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Early-Onset Ataxia NGS Panel

Fulgent Genetics
United States
507133
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hypomyelinating Leukodystrophy NGS Panel

Fulgent Genetics
United States
22562
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ataxia NGS Panel

Fulgent Genetics
United States
535150
  • D Deletion/duplication analysis
  • 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

POLR3H Single Gene

Fulgent Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hereditary Ataxia

Asper Biogene Asper Biogene LLC
Estonia
180139
  • 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

Mitochondrial Diseases (mtDNA and 217 nuclear genes)

Asper Biogene Asper Biogene LLC
Estonia
89210
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 45

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