Invitae Congenital Disorders of Glycosylation Panel
Use
The Invitae Congenital Disorders of Glycosylation Panel is designed for diagnosing patients with suspected congenital disorders of glycosylation (CDG). CDGs are genetic conditions that affect glycosylation pathways, leading to a wide range of clinical manifestations, including developmental delay, hypotonia, seizures, and abnormalities in various organ systems. This panel is crucial for identifying genetic mutations associated with N-linked glycosylation, COG complex defects, and other glycosylation disorders, facilitating targeted treatment and management for affected individuals.
Special Instructions
The test requires prior clinical suspicion of a CDG based on clinical symptoms or biochemical findings. Customization of the gene panel is possible by removing specific genes, allowing for tailored genetic analysis based on the patient's unique presentation. Ensure proper specimen collection and handling as per the guidelines provided by Invitae to maintain sample integrity and accuracy of results.
Limitations
The assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, small insertions and deletions, and exon-level duplications and deletions. However, it may not detect certain complex structural variants, such as large insertions, inversions, or translocations, due to limitations in sequencing technology. Variants in non-coding regions are not covered unless explicitly stated. Single-exon copy number variations may not be detected in rare cases due to sequence properties or data quality issues. The presence of circulating neoplasms or prior hematopoietic therapy may affect the accuracy of genomic representation.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)