Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine Panel
Use
This panel test is designed for individuals with a clinical or suspected diagnosis of disorders affecting the metabolism of cobalamin, folate, or homocysteine. It is suitable for patients who exhibit elevated levels of methylmalonic acid, homocysteine, or propionylcarnitine (C3), as detected in newborn screenings. This test may help in confirming a diagnosis and guiding clinical management by identifying pathogenic variants in genes associated with these metabolic pathways.
Special Instructions
The panel includes both NGS and CNV analysis, utilizing either an Exome or Genome platform. New York state approval is noted, ensuring compliance with state-specific regulations. Users are encouraged to log in for standard institutional pricing and to complete orders through the myPrevent online system. Detailed clinical information is required for accurate interpretation of variants.
Limitations
The test has not been cleared or approved by the US Food and Drug Administration, although it has been validated according to CAP and CLIA standards. Potential limitations include the inability to detect certain pathogenic variants undetectable by the NGS or CNV methods used. Incidental findings outside the scope of the specified genes are not reported.
New York Approved
Methodology
NGS (Targeted)
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