Methylmalonic Aciduria-Propionic Aciduria Combined Gene Panel, Varies
Use
This test is useful for follow-up testing after abnormal biochemical results indicating methylmalonic acidemia or propionic acidemia. It helps in establishing a molecular diagnosis for patients with these conditions. The test is also beneficial in identifying genetic variants associated with methylmalonic acidemia and propionic acidemia, allowing for predictive testing of at-risk family members. Identifying a disease-causing variant can assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling.
Special Instructions
Prenatal specimens of amniotic fluid or cultured amniocytes will require an additional amniotic fluid culture charge. Chorionic villi specimens will require fibroblast culture at an added cost. For any prenatal sample received, maternal cell contamination testing will be carried out at an extra charge. Skin biopsy or cultured fibroblast specimens will require a fibroblast culture with additional charges.
Limitations
The test is not recommended for detecting benign MTHFR variants c.665C>T and c.1286A>C due to limited clinical utility. The clinical significance of these variants is not well-established, and they may not provide helpful information for diagnosis or management.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Other
Volume
Not provided
Minimum Volume
Not provided
Collection Instructions
Refer to the Test Overview section for special instructions on required cultures and maternal cell contamination testing for prenatal specimens. Ensure sample integrity by following proper collection guidelines.