Congenital Disorders of Glycosylation (CDG) Panel
Use
This test is intended for individuals who have a clinical or suspected diagnosis of a Congenital Disorder of Glycosylation (CDG), individuals with abnormal serum transferrin isoform results, or those with abnormal glycosylation results on cellular biomarkers. The panel aids in diagnosing CDG by analyzing 54 genes associated with these disorders.
Special Instructions
Ensure to use appropriate specimens based on the platform selected. STAT testing is available for rapid results. The Exome-Wide CNV Analysis is available as an add-on option if using the PGxome or custom panel. For exome-wide CNV, additional fees apply.
Limitations
The test's limitations include the possibility that not all genetic variants linked to CDGs will be identified. Variants in genes not covered by this panel will not be detected. Additionally, the clinical relevance of certain detected variants may not be fully understood at the time of testing. Interpretations are based on current knowledge, and new discoveries could change the significance of identified variants.
New York Approved
Methodology
NGS (CGP)
Biomarkers
Result Turnaround Time
14-28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided