Lab test
Niemann-Pick Disease Test – Carrier Testing
Niemann-Pick Disease Test – Carrier Testing can be ordered without a referral, and this guide covers what to expect. This test looks for specific genetic changes linked to Niemann-Pick diseases, Types A and B.
What this test is
Niemann-Pick disease is a rare inherited condition affecting how the body stores certain fats. This test analyzes your DNA to detect common mutations associated with these specific types of Niemann-Pick disease.
What it measures
- Niemann-Pick Disease Mutations (Types A & B) — detects specific genetic changes associated with the disease
What the test involves
A sample is collected through a standard blood draw from a vein in your arm.
Why it is often ordered
Clinicians may order this test for individuals with a family history of Niemann-Pick disease or symptoms that suggest the condition. It can help identify if someone is a carrier of these specific genetic mutations.
Preparation
Please follow any specific instructions provided by the laboratory collecting your sample. Generally, no special preparation is needed for this test.
How results are reported
Results are typically reported as positive or negative for the tested mutations. Reference ranges, if applicable, are determined by the performing laboratory.
Before you go
- How to prepare your sample
- How results are reported
- The specific mutations tested
FAQ
Frequently asked questions
What are Niemann-Pick diseases?
Niemann-Pick diseases are a group of inherited metabolic disorders. They affect the body's ability to process cholesterol and other fatty substances, leading to their buildup in cells.
What is carrier testing?
Carrier testing is a type of genetic testing that can tell you if you carry a change in a gene that could cause a specific inherited disorder. If you are a carrier, you might pass the gene change to your children.
Can this test detect all types of Niemann-Pick disease?
This test is designed to identify common mutations associated with Niemann-Pick disease Types A and B. It may not detect all possible mutations or other types of Niemann-Pick disease.
How is Niemann-Pick disease inherited?
Niemann-Pick disease Types A and B are inherited in an autosomal recessive pattern. This means a person must inherit a changed gene from both parents to have the condition.
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