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Results: 21 to 40 of 43

Tests names and labsConditionsGenes, analytes, and microbesMethods

Invitae Fatty Acid Oxidation Defects Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
2825
  • D Deletion/duplication analysis

Hyperammonemia and urea cycle disorders panel. 48-gene NGS panel.

Genologica Medica
Spain
4948
  • C Sequence analysis of the entire coding region

Fatty acid oxidation syndrome panel. NGS panel of 26 genes.

Genologica Medica
Spain
3026
  • C Sequence analysis of the entire coding region

Hypoglycemia, hyperinsulinism, and ketone metabolism panel. NGS panel of 50 genes.

Genologica Medica
Spain
7350
  • C Sequence analysis of the entire coding region

Fatty Acid Oxidation Disorders Panel, Sequencing

ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories
United States
2325
  • C Sequence analysis of the entire coding region

Mitochondrial genome sequencing

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

HMGCS2 Gene Sequencing by Massively Parallel Sequencing (BCM-NGSSM)

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

HMGCS2 Sequence Analysis (Familial Mutation/Variant Analysis)

Baylor Genetics
United States
11
  • T Targeted variant analysis

HMGCS2  Sequence Analysis (Prenatal Sequence Analysis)

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

Comprehensive Metabolism NGS Panel

Fulgent Genetics
United States
602355
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Lipid Metabolism Deficiency NGS Panel

Fulgent Genetics
United States
8071
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ketone Body Metabolism Deficiency NGS Panel

Fulgent Genetics
United States
55
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hyperammonemia and Urea Cycle Disorder NGS Panel

Fulgent Genetics
United States
7056
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hypoglycemia Ketogenesis NGS Panel

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

Hypoglycemia NGS Panel

Fulgent Genetics
United States
7153
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Fatty Acid Oxidation Disorder

Asper Biogene Asper Biogene LLC
Estonia
2320
  • C Sequence analysis of the entire coding region

HMG-COA SYNTHETASE DEFICIENCY

Laboratorio de Genetica Clinica SL
Spain
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

HMGCS2

Institute of Human Genetics Medical University Innsbruck
Austria
11
  • S Mutation scanning of the entire coding region

HMGCS2 Single Gene

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

Fatty Acid Oxidation Deficiency NGS Panel

Fulgent Genetics
United States
2322
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 43

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.