Genetic mutation analysis for Glycogen Storage Disease Type II (Pompe Disease) – Carrier Screening
This test checks if you carry a genetic mutation linked to Pompe Disease, a rare condition affecting how your body breaks down glycogen (a sugar stored in muscles and organs).
["This screening helps identify potential carriers for a genetic disorder that may affect your family."]
Key facts at a glance
- LOINC
- 53867-8
- Short code
- GYS2 gene Mut Anl Bld/T
- Synonyms
- GYS2 gene Mut Anl Bld/T
- Category
- chemistry
- Sample
- whole-blood
- Container
- Lavender-top (EDTA)
- Units
- N/A
- Fasting
- false
- Population
- adult
- Sex
- all
- Age range
- 18–65 years
- Method
- molgen
- Specimen volume
- 3 mL
- Stability
- Room temperature: 4h, Refrigerated: 24h
- Hemolysis max
- 0
- Lipemia max
- 0
- Icterus max
- 0
- TAT
- 4–24 hours
- Order
- routine
What This Test Measures
The test detects specific genetic mutations in the *GLYCOGENIN-1* gene (also called *GAA*), which are associated with Pompe Disease. If you carry one mutated copy of this gene, you are a carrier.
How the Test Works
Blood is drawn to analyze DNA from your white blood cells. Specialized lab techniques identify whether you have the mutated gene linked to Pompe Disease.
Why It Matters for You
Carrier screening is important if you or your partner have a family history of Pompe Disease or other lysosomal storage disorders. Knowing your status can help with family planning and genetic counseling.
What to Expect Before the Test
No special preparation is needed. You’ll have a simple blood draw, similar to other routine blood tests. Results are typically available within 1–2 weeks.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
◆Associated findings1
Short name
Pompe Carrier Screening
Frequently asked questions
This test is primarily for genetic counseling and family planning. If you are a carrier, you have a 50% chance of passing the mutation to each child. Early diagnosis can guide reproductive decisions and genetic counseling.
Results are usually ready within 1–2 weeks after the lab processes your sample. Your healthcare provider will discuss the results with you.
A positive result means you carry the mutated gene linked to Pompe Disease. This does not mean you will develop the disease, but it indicates you may pass it to your children. Genetic counseling can help explain your options.
Sources
- 1
- 2Lab Tests OnlineSource
- 3
Click any link to access the full source. PubMed Central (PMC) links provide free full-text access.
This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 16, 2026. · Read our editorial policy