Web: | mayocliniclabs.com |
---|---|
Email: | mcl@mayo.edu |
Telephone: | 800-533-1710 |
International: | +1 855-379-3115 |
Values are valid only on day of printing. |
Follow up for abnormal biochemical results suggestive of glutaric acidemia type II
Establishing a molecular diagnosis for patients with glutaric acidemia type II
Identifying variants within genes known to be associated with glutaric acidemia, allowing for predictive testing of at-risk family members
This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 8 genes associated with glutaric aciduria: ETFA, ETFB, ETFDH, FLAD1, SLC52A1, SLC52A2, SLC52A3, TANGO2. See Method Description for additional details.
Identification of a pathogenic variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for glutaric aciduria type II.
Additional first-tier testing may be considered/recommended. For more information see Advisory Information.
Custom Sequence Capture and Targeted Next-Generation Sequencing followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing.