Congenital Disorders of Glycosylation (CDG) Panel

Casandra

Casandra Test Code PG47292Version 1 (DRAFT)

Performing Lab

Lab Prevention GeneticsLab Test ID 10625

Congenital Disorders of Glycosylation (CDG) Panel

Clinical Use

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.

Test Details

New York Approved

Methodology

NGS (CGP)

Biomarkers

This component involves next-generation sequencing to detect CNVs and point mutations across 54 genes associated with Congenital Disorders of Glycosylation.

NGS with CNV Detection • CGP