Glycogen Storage Disease Type IV via the GBE1 Gene

Clinical Use

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

Not provided.

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.

Test Details