Lab test

Niemann-Pick Disease Test - Carrier Testing

This test screens for carrier status of Niemann-Pick disease types A and B by analyzing four mutations in the SMPD1 gene.

Typical price

From $199

Results

1-3 business days

Preparation

See preparation notes below

Sample

Blood draw or sample collection at a local center

This test screens for carrier status of Niemann-Pick disease types A and B by analyzing four mutations in the SMPD1 gene. Niemann-Pick disease is a lysosomal storage disorder that affects how the body processes certain fats. Carriers usually have no symptoms but can pass a mutation to a child. Clinicians order it for reproductive planning and family-risk assessment, especially in higher-risk populations.

• SMPD1 gene mutations (four common variants) The genetic markers analyzed to identify Niemann-Pick disease carriers and affected individuals.

• People of Ashkenazi Jewish descent planning a pregnancy.
• Individuals with a family history of Niemann-Pick disease.
• Couples considering reproductive carrier screening.
• People with a partner known to be a carrier.
• Anyone with symptoms prompting evaluation for a storage disorder.

• No fasting is required for Niemann-Pick carrier testing.
• Take usual medications unless told otherwise.
• Share family history and reproductive plans.
• A blood or saliva sample may be used.
• Genetic counseling is advised before and after testing.

Detection of one of the analyzed SMPD1 mutations can indicate carrier status, while certain combinations may indicate an affected individual. Carriers usually have no symptoms but can pass the condition on if both partners are carriers. Because results can have family-planning implications, they are best reviewed with a genetic counselor. Discuss the findings with a healthcare provider and genetic counselor.

• Alabama
• Alaska
• Arizona
• Arkansas
• California
• Colorado
• Connecticut
• Delaware
• Florida
• Georgia