Long Chain Acyl‑CoA Dehydrogenase (LCHAD) Mutation Analysis
Also known as: Fatty Acid Oxidation Defect, Mitochondrial B Oxidation Defect, Long Chain Fatty Acids
Use
This test is used for diagnosis and carrier screening of long‑chain 3‑hydroxyacyl‑CoA dehydrogenase deficiency, an autosomal recessive inborn error of fatty acid metabolism caused by mutations in the HADHA gene. It aids in identifying individuals who are affected by or carry pathogenic variants associated with LCHAD deficiency ([ncbi.nlm.nih.gov](https://www.ncbi.nlm.nih.gov/gtr/tests/508030.6?utm_source=openai)).
Special Instructions
Not provided.
Limitations
Not provided explicitly on the page; limitations not detailed in the available information ([ncbi.nlm.nih.gov](https://www.ncbi.nlm.nih.gov/gtr/tests/508030.6?utm_source=openai)).
Methodology
NGS (Targeted)
Biomarkers
HADHA
Gene
LOINC Codes
- 41097-7 - HADHA c.1528G>C Bld/T Ql
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided
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