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Results: 21 to 40 of 101

Tests names and labsConditionsGenes, analytes, and microbesMethods

LCHAD deficiency, 609016, Autosomal recessive (Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency) (HADHA gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Invitae Hyperammonemia Panel

Invitae
United States
7572
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Carrier Screen

Invitae
United States
886547
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Mitochondrial Trifunctional Protein Deficiency and Long-Chain 3-Hydroxyacyl CoA Dehydrogenase Deficiency Panel

PreventionGenetics, part of Exact Sciences
United States
22
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Disorders of Fatty Acid Oxidation (FAOD) Panel

PreventionGenetics, part of Exact Sciences
United States
3232
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Panel

PreventionGenetics, part of Exact Sciences
United States
10683
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Comprehensive Cardiology Panel

PreventionGenetics, part of Exact Sciences
United States
223198
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Mitochondrial Trifunctional Protein Deficiency and Long-Chain 3-Hydroxyacyl CoA Dehydrogenase Deficiency via the HADHA Gene

PreventionGenetics, part of Exact Sciences
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Metabolic Newborn Screening Confirmation Panel

Invitae
United States
201158
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Fatty Acid Oxidation Defects Panel

Invitae
United States
2825
  • D Deletion/duplication analysis

Invitae Comprehensive Neuromuscular Disorders Panel

Invitae
United States
353208
  • D Deletion/duplication analysis

Fatty Acid Oxidation Panel (MitomeNGS)

Baylor Genetics
United States
1617
  • C Sequence analysis of the entire coding region

HADHA Sequence Analysis (Prenatal Diagnosis)

Baylor Genetics
United States
21
  • T Targeted variant analysis

HADHA Sequence Analysis

Baylor Genetics
United States
21
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

HADHA Deletion/Duplication Analysis

Baylor Genetics
United States
21
  • D Deletion/duplication analysis

HADHA Common Mutation Panel

Baylor Genetics
United States
21
  • E Sequence analysis of select exons

Trifunctional Protein Deficiency Panel

Baylor Genetics
United States
22
  • C Sequence analysis of the entire coding region

Trifunctional Protein Deficiency Deletion/Duplication Panel

Baylor Genetics
United States
22
  • D Deletion/duplication analysis

Trifunctional Protein Deficiency Panel

Baylor Genetics
United States
22
  • C Sequence analysis of the entire coding region

Trifunctional Protein Deficiency Comprehensive Panel (Sequencing and Deletion/Duplication Analysis)

Baylor Genetics
United States
22
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 101

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.