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Results: 1 to 20 of 21

Tests names and labsConditionsGenes, analytes, and microbesMethods

Mitochondrial DNA analysis

DLE - Diagnosticos Laboratoriais Especializados
Brazil
621
  • C Sequence analysis of the entire coding region

MVL Vision Panel

Molecular Vision Laboratory
United States
13581028
  • C Sequence analysis of the entire coding region

NDUFA1 - NGS including CNV analysis

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

CentoNeuro Panel

Centogene AG - the Rare Disease Company
Germany
18861858
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Epilepsy Panel

Centogene AG - the Rare Disease Company
Germany
734744
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Intellectual Disability Panel

Centogene AG - the Rare Disease Company
Germany
777770
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CentoIEM Panel

Centogene AG - the Rare Disease Company
Germany
669688
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoMito Comprehensive Panel

Centogene AG - the Rare Disease Company
Germany
406414
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ataxia / Spastic Paraplegia Comprehensive Panel

Centogene AG - the Rare Disease Company
Germany
451452
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ataxia / Spastic Paraplegia Panel

Centogene AG - the Rare Disease Company
Germany
442443
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CentoICU Panel

Centogene AG - the Rare Disease Company
Germany
829848
  • C Sequence analysis of the entire coding region

Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel

Invitae
United States
971680
  • D Deletion/duplication analysis

Invitae Nuclear Mitochondrial Disorders Panel

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

Mitochondrial Disorders Panel (Nuclear Genes Only)

PreventionGenetics
United States
292253
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

NDUFA1 - Mitochondrial complex I deficiency

Translational Metabolic Laboratory Radboud University Medical Centre
Netherlands
11
  • C Sequence analysis of the entire coding region

Leukodystrophy and Leukoencephalopathy Panel

PreventionGenetics
United States
201211
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

X-Linked Intellectual Disability Panel

PreventionGenetics
United States
191141
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Mitochondrial genome sequencing

Molecular Vision Laboratory
United States
526339
  • C Sequence analysis of the entire coding region

NDUFA1 Full Gene Sequencing Analysis

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
11
  • C Sequence analysis of the entire coding region

NDUFA1 Sequence Analysis (Familial Mutation/Variant Analysis)

Baylor Genetics
United States
11
  • E Sequence analysis of select exons

Results: 1 to 20 of 21

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.