Glutaric Aciduria Type II Gene Panel, Varies
Use
This test is useful for following up on abnormal biochemical results that suggest glutaric acidemia type II. It helps establish a molecular diagnosis for patients with this condition. Identifying variants within genes known to be associated with glutaric acidemia allows for predictive testing of at-risk family members. Genetic testing information indicates that next-generation sequencing is utilized to detect single nucleotide and copy number variants in 8 genes associated with glutaric aciduria.
Special Instructions
This test includes next-generation sequencing, polymerase chain reaction (PCR), and Sanger sequencing. Additional first-tier testing may be considered or recommended, and ordering guidance should be consulted for further information. Reflex tests are billable but not always performed separately for analysis using STR. Prenatal specimens may incur additional charges for fibroblast and amniotic fluid culture, as well as maternal cell contamination testing.
Limitations
The test may not detect all genetic changes associated with glutaric aciduria type II. Detection is limited to the specific genes tested for single nucleotide and copy number variants: ETFA, ETFB, ETFDH, FLAD1, SLC52A1, SLC52A2, SLC52A3, TANGO2. False negatives may occur if the variant is outside the sequenced regions or has technical limitations in detection methodologies like NGS, PCR, and Sanger sequencing.
New York Approved
Methodology
NGS (Sequence Capture)
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
For skin biopsy or cultured fibroblast specimens, a fibroblast culture will be performed at an additional charge. Prenatal specimens like amniotic fluid or chorionic villi will incur additional charges for necessary cultures and maternal cell contamination testing.