Niemann-Pick Disease Type A Mutation Analysis

Niemann-Pick disease type A occurs at an increased frequency in individuals of Ashkenazi Jewish descent, with a carrier frequency of 1 in 90. It is a lysosomal storage disorder that results in poor growth, hepatosplenomegaly, progressive mental and physical deterioration and death by 4 years of age.

Couples who are planning a pregnancy or who are already pregnant may decide to have testing to find out if they are carriers and at risk of having a baby with Niemann-Pick disease type A. If both parents are found to be carriers, prenatal diagnosis by CVS or amniocentesis is available. Our Niemann-Pick disease type A mutation analysis tests for 3 mutations for a 95% carrier detection rate in the Ashkenazi Jewish population.

CPT Codes:

83893(3), 83894, 83896(4), 83900

Specimen Requirements:

1. Blood:

• ACD-A (yellow-top) or EDTA (lavender-top) tube.
• Adult: 10 cc whole blood; 30 cc whole blood if ordering multiple tests.

Turnaround Time:

10-14 days

2. Mouthwash:

Please Note: Patient should not eat, drink, smoke or chew gum for at least one hour prior to collection. (See specimen kit for detailed instructions). Mouthwash samples can be sent when ordering up to two tests. When ordering more than two tests, blood samples are required.

• 10 ml of Scope^® mouthwash that has been swished vigorously for at least 1 minute.
• Collect in orange-top 50 ml polypropylene tube.

Turnaround Time:

7-10 days

3. Prenatal:

Please Note: Call a laboratory genetic coordinator prior to obtaining any prenatal specimens. Prenatal testing is recommended only for carrier couples with identified mutations. In some circumstances, specimens from other family members may be required.

All prenatal specimens (including cord blood) must be accompanied by a maternal blood or mouthwash specimen for analysis of possible maternal cell contamination.

• Discard first 2 cc; then 10 cc amniotic fluid in 15 cc orange-top polypropylene tube, 10-15 mg chorionic villi in laboratory-provided screw-top tubes with sterile transport medium or one T-25 flask of confluent fetal cells.
• Additional specimen must be obtained for back-up culture at one of our cytogenetics laboratories or another facility.
• If additional testing is desired, more amniotic fluid is needed. For example, chromosome analysis requires an additional 15-25 cc (see Cytogenetics – Amniotic Fluid Chromosome Analysis test page) and AFAFP requires an additional 2 cc (see Amniotic Fluid Alpha-Fetoprotein - AFAFP test page).

Turnaround Time:

10-14 days (when cell culture required, add ~2 weeks)

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