Genetic carrier screening for interstitial storage disease type I (ISBT1)
This test checks if you carry a gene mutation linked to a rare genetic disorder called **interstitial storage disease type I**, which affects how your body breaks down certain substances.
["A simple blood test to assess your risk of passing on a genetic condition to your children."]
Key facts at a glance
- LOINC
- 100695-6
- Short code
- Gene dis anl carrier interp Bld/T-Imp
- Synonyms
- Gene dis anl carrier interp Bld/T-Imp
- 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
Why This Test Matters
Interstitial storage disease type I is caused by a mutation in the *GLA* gene, which impacts the enzyme **alpha-galactosidase A**. This enzyme helps remove certain sugars from your body. Without enough of it, harmful substances build up, leading to organ damage over time. This test helps identify if you carry one of the mutated copies of the gene, which could increase your risk of passing it to your children.
What to Expect During the Test
You’ll provide a small blood sample, typically drawn from your arm. The test checks for the presence of a specific genetic mutation in your DNA. Results are usually available within a few days to a week, depending on lab processing times.
What the Results Mean
Results are reported in terms of **carrier status**: You may be identified as a carrier (having one mutated gene copy), a non-carrier (both copies are normal), or a **heterozygous variant carrier** (having one known mutation and one variant copy). If you’re a carrier, you may want to discuss genetic counseling with a healthcare provider to understand risks and options for future pregnancies.
Who Might Need This Test
This test is often recommended for individuals with a family history of interstitial storage disease type I, those planning pregnancy, or those considering genetic counseling. It’s not a routine screening test for the general population.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
If you’re identified as a carrier, you may have a **1 in 4 chance** of having a child with the disorder if both parents carry the mutation. While there’s no cure, early diagnosis and genetic counseling can help manage risks. Some couples may explore reproductive options like preimplantation genetic diagnosis (PGD) to avoid passing the condition to their children. Always consult a healthcare provider for personalized guidance based on your family history and medical needs.
Short name
ISBT1 carrier screening
Frequently asked questions
What does a positive result mean for my health?
How accurate is this genetic carrier screening test?
Can I get this test if I don’t have a family history of the disorder?
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