Elevated C5-DC Acylcarnitine via the GCDH Gene
Use
This test is aimed at individuals who either have symptoms, biochemical test results, or known familial sequence variants related to glutaric acidemia type I. It is useful for confirming a diagnosis in individuals with abnormal newborn screening for C5-DC glutarylcarnitine or reduced enzyme activity in fibroblasts or leukocytes. The test can aid in understanding if symptoms are related to this condition and provide guidance for treatment options based on genetic findings.
Special Instructions
The test utilizes Next-Generation Sequencing (NGS) with CNV analysis on either an exome or genome platform. Specimen requirements differ based on the platform used. Ordering may involve additional decisions on the type of platform, need for exome-wide CNV analysis, and potential for faster STAT testing. Coordination with PreventionGenetics may be needed for customized analysis based on specific clinical scenarios or family studies.
Limitations
While comprehensive, the test may not detect all possible variants due to limitations in sequencing technology, specifically in regions with high homology or repetitive sequences. CNV detection is subject to technical constraints and may miss small or complex rearrangements. Variants of unknown significance may be identified, requiring further investigation. Diagnostic efficacy is limited to mutations in the GCDH gene and may not address other metabolic or genetic conditions.
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