Glycogen Storage Disease Type II (Pompe Disease) via the GAA Gene
Use
This test is crucial for individuals with clinical features suggestive of Pompe disease, or those who have received positive newborn screening results indicating reduced acid alpha-glucosidase enzyme activity. It aids in diagnosing Pompe disease by analyzing the GAA gene for pathogenic variants. Additionally, reproductive partners of individuals known to have a pathogenic or likely pathogenic variant in the GAA gene can benefit from this test to understand their genetic risk.
Special Instructions
Ensure proper consent and counseling are provided to patients, especially regarding the implications of genetic testing. This test is available with Exome or Genome Platform, and specimen types vary accordingly. Not all platform options may be suitable for every individual or condition, and consultation with a healthcare provider is recommended before ordering.
Limitations
The test may not detect all causative variants for Pompe disease; limitations are in place depending on the platform used. Variants in regions with complex genetics or structural variants beyond the scope of the CNV analysis may remain undetected. Additionally, the test does not guarantee detection of variants not located within the GAA gene or those that influence gene expression or regulation.
New York Approved
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
Collection Instructions
Refer to standard collection guidelines for Exome Platform specimens.
Patient Preparation
Ensure patient is hydrated and inform them of potential test implications.
Causes for Rejection
Improper labeling or compromised specimens.