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Results: 21 to 40 of 108

Tests names and labsConditionsGenes, analytes, and microbesMethods

Hypoglycemia Panel

PreventionGenetics, part of Exact Sciences
United States
131115
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Mitochondrial Disorders Panel (Nuclear Genes Only)

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

Trifunctional protein deficiency, 609015, Autosomal recessive; MTPD (Mitochondrial trifunctional protein 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

Trifunctional protein deficiency, 609015, Autosomal recessive (Mitochondrial trifunctional protein deficiency) (HADHB 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

Trifunctional protein deficiency, 609015, Autosomal recessive (Mitochondrial trifunctional protein deficiency) (HADHB gene) (Sequence Analysis-All Coding Exons) (Prenatal)

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

Invitae Hyperammonemia Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
7572
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Metabolic Non-Immune Fetal Hydrops Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
5051
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Carrier Screen

Labcorp Genetics (formerly Invitae) LabCorp
United States
886547
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

HADHA-Related Disorders

Myriad Genetics, Inc.
United States
11
  • 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
10783
  • 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

qCarrier Plus

Quantitative Genomic Medicine Laboratories, SL
Spain
327300
  • C Sequence analysis of the entire coding region

Invitae Metabolic Newborn Screening Confirmation Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
222160
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Fatty Acid Oxidation Defects Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
3126
  • D Deletion/duplication analysis

Invitae Comprehensive Neuromuscular Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
353208
  • D Deletion/duplication analysis

Hypoparathyroidism Panel

PreventionGenetics, part of Exact Sciences
United States
1515
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Fatty Acid Oxidation Panel (MitomeNGS)

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

HADHB Sequence Analysis (Prenatal Diagnosis)

Baylor Genetics
United States
11
  • T Targeted variant analysis

Results: 21 to 40 of 108

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.