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Results: 1 to 20 of 23

Tests names and labsConditionsGenes and analytesMethods

Sensory ataxic neuropathy dysarthria and PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA

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

Comprehensive Primordial Dwarfism Panel

Genetic Services Laboratory University of Chicago
United States
1828
  • C Sequence analysis of the entire coding region

Mitochondrial Genome Sequence

Molecular Genetics Laboratory London Health Sciences Centre
Canada
2238
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Early Infantile Epileptic Encephalopathy Panel

Genetic Services Laboratory University of Chicago
United States
4245
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Optic Atrophy and Early Glaucoma Panel

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

OFTHALMOPLEGIA, CHRONIC PROGRESSIVE EXTERNAL

Laboratorio de Genetica Clinica SL
Spain
22
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Neuro-Ophthalmology Panel

Blueprint Genetics
Finland
338
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Progressive External Opthalmoplegia

Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University
United States
16
  • C Sequence analysis of the entire coding region

VARS2

Fulgent Genetics
United States
91
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MGME1

Fulgent Genetics
United States
241
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

DNA2

Fulgent Genetics
United States
251
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Epilepsy NGS Panel

Fulgent Genetics
United States
3030447
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Early-Onset Epileptic Encephalopathy NGS Panel

Fulgent Genetics
United States
1004133
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Essential Epilepsy NGS Panel

Fulgent Genetics
United States
79370
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Progressive external ophthalmoplegia (CPEO, 4977bp deletion in mtDNA)

CGC Genetics
Portugal
11
  • D Deletion/duplication analysis

Kearns Sayre syndrome

MGZ Medical Genetics Center
Germany
58
  • D Deletion/duplication analysis
  • S Mutation scanning of the entire coding region
  • C Sequence analysis of the entire coding region

Parkinson-Alzheimer-Dementia NGS Panel

Fulgent Genetics
United States
8237
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Mitochondrial DNA Depletion Syndromes NGS Panel

Fulgent Genetics
United States
4311
  • -- Deletion/duplication analysis
  • -- Sequence analysis of the entire coding region

TWNK/C10orf2-Related Mitochondrial Disorder

MGZ Medical Genetics Center
Germany
81
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Mitochondrial DNA Deletion Syndromes

MGZ Medical Genetics Center
Germany
51
  • D Deletion/duplication analysis

Results: 1 to 20 of 23

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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