Glycogen Storage Disease Type IV via the GBE1 Gene
Use
This test is for individuals with clinical or suspected diagnosis of Glycogen Storage Disease Type IV, individuals with reduced glycogen branching enzyme activity by biochemical testing, or reproductive partners of individuals with a known pathogenic or likely pathogenic variant in the GBE1 gene.
Special Instructions
Testing can be performed on different specimen types depending on the platform used: Exome Platform allows Blood, DNA, Buccal, Saliva, and Tissue; Genome Platform allows Blood and DNA.
Limitations
This test requires proper specimen collection and maintenance per the platform specifications to ensure accurate results. Testing is limited to the GBE1 gene and may not identify all genetic variations that contribute to Glycogen Storage Disease Type IV.
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