Galactosemia Panel
Use
This test is intended for individuals who show symptoms or have been clinically diagnosed with galactosemia. It may also be relevant for those with newborn screening results or biochemical/enzyme assay findings that are consistent with galactosemia. Early diagnosis can help guide treatment and management decisions, potentially improving outcomes by preventing complications associated with the disorder.
Special Instructions
Not provided.
Limitations
The Galactosemia Panel analyzes only the specified genes associated with the condition and may not identify other genetic factors contributing to similar symptoms. CNV (copy number variation) detection is performed through exome or genome platform approaches, which might not capture all types of genetic variations. False negatives or positives can occur, and additional testing may be required for a definitive diagnosis. The test is not cleared or approved by the US FDA, as it was developed under CAP and CLIA regulations by PreventionGenetics.
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