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Results: 1 to 9 of 9

Tests names and labsConditionsGenes, analytes, and microbesMethods

Combined mtDNA+Nuclear Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
12221
  • D Deletion/duplication analysis
  • S Mutation scanning of the entire coding region
  • E Sequence analysis of select exons

Spinal Muscular Atrophy (SMA) Panel

CeGaT GmbH
Germany
4427
  • C Sequence analysis of the entire coding region

Leukodystrophy / Leukencephalopathy and differential diagnoses Panel

CeGaT GmbH
Germany
69175
  • C Sequence analysis of the entire coding region

Nuclear encoded Mitochondriopathies Panel

CeGaT GmbH
Germany
37284
  • C Sequence analysis of the entire coding region

Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel

CeGaT GmbH
Germany
147143
  • C Sequence analysis of the entire coding region

Lactic Acidosis-Pyruvate NGS Panel

Fulgent Genetics
United States
12969
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Leigh Syndrome (nuclear DNA mutation)

MGZ Medical Genetics Center
Germany
125
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

SURF1 - Leigh Syndrome

Centre for Inherited Metabolic Diseases Karolinska University Hospital
Sweden
11
  • C Sequence analysis of the entire coding region

Leigh Syndrome (nuclear DNA mutation)

John Welsh Cardiovascular Diagnostic Laboratory Baylor College of Medicine
United States
12
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 9 of 9

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.