Glycogen Storage Disease Type Ia via the G6PC1/G6PC Gene
Use
This test is intended for individuals who have clinical symptoms or a suspected diagnosis of glycogen storage disease type Ia. It is also relevant for reproductive partners of individuals with a known pathogenic or likely pathogenic variant in the G6PC1 gene. Glycogen storage disease type Ia is a rare genetic condition that affects the way glycogen is stored and processed in the body, primarily impacting the liver and kidneys.
Special Instructions
Not provided.
Limitations
This test employs next-generation sequencing with the inclusion of copy number variation analysis, which is highly sensitive for detecting sequence variants and CNVs within the G6PC gene. However, it does not detect large deletions or duplications outside the targeted G6PC gene region. Certain low-level mosaic variants may not be detected, and this test is not suitable as a broad-spectrum screening tool for glycogen storage diseases beyond type Ia.
New York Approved
Methodology
NGS (Exome)
Biomarkers
G6PC1
Gene
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