Mitochondrial Trifunctional Protein Deficiency and Long-Chain 3-Hydroxyacyl CoA Dehydrogenase Deficiency Panel
Use
This test is designed for individuals who have a clinical or suspected diagnosis of LCHAD/TFP deficiency. These conditions are characterized by elevated long-chain 3-OH-acylcarnitines on blood acylcarnitine analysis and abnormal newborn screening results showing elevated C16-OH and C18:1-OH. Early diagnosis and management of these deficiencies are crucial to prevent serious complications such as liver disease, cardiomyopathy, rhabdomyolysis, and neuropathy.
Special Instructions
This panel analyzes 2 genes involved in the biochemical pathways responsible for mitochondrial trifunctional protein deficiency and LCHAD deficiency. Testing is available using either Exome or Genome platforms. New York state approval is noted, and additional options such as Exome-Wide CNV Analysis and STAT Testing are available upon order.
Limitations
The panel may not detect all pathogenic variants, particularly those in regions not covered by the testing platforms. Exome sequencing limitations include potential gaps in coverage and the inability to detect large deletions or duplications effectively. Genomic CNVs may not be detected if below the resolution capabilities of the platform used.
New York Approved
Methodology
NGS (CGP)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided