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Results: 1 to 14 of 14

Tests names and labsConditionsGenes, analytes, and microbesMethods

Invitae Nuclear Mitochondrial Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
394319
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Pyruvate Metabolism and Related Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
4038
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

WES metabolic disorders

Translational Metabolic Laboratory Radboud University Medical Centre
Netherlands
1625
  • E Sequence analysis of select exons

WES mitochondrial disorders

Translational Metabolic Laboratory Radboud University Medical Centre
Netherlands
1369
  • E Sequence analysis of select exons

SUCLG2 - Mitochondrial DNA depletion syndrome

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

Mitochondrial Genome Maintenance/Integrity Nuclear Genes Panel

PreventionGenetics, part of Exact Sciences
United States
2722
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

NGS panel Pheocromocytoma/Paraganglioma

Centro de Investigaciones Endocrinológicas “Dr. César Bergadá” (CEDIE), Unidad de Investigacion Traslacional (UIT) Hospital de Niños Dr. Ricardo Gutiérrez
Argentina
130
  • C Sequence analysis of the entire coding region

MITOCHONDRIAL DISEASES PANEL (NUCLEAR GENES)

Laboratorio de Genetica Clinica SL
Spain
11372
  • E Sequence analysis of select exons

SUCLG2 Sequence Analysis

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

SUCLG2 Sequence Analysis (Familial Mutation/Variant Analysis)

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

SUCLG2 Comprehensive - Sequence & Deletion/Duplication Analysis

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

SUCLG2 Deletion/Duplication Analysis

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

SUCLG2 Sequence Analysis (Prenatal Diagnosis)

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

SUCLG2 Single Gene

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

Results: 1 to 14 of 14

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.