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Test Code	B0017
Test Summary	This test detects acid sphingomyelinase activity.
Turn-Around-Time (TAT)*	3 days
Acceptable Sample Types	Dried Blood Spots Whole Blood (EDTA)
Acceptable Billing Types	Self (patient) Payment Institutional Billing

*TAT starts after the sample and all required sample information is received at PerkinElmer Genomics, or after the benefits investigation is complete if requested for commercial insurance billing.

Test Description

This test detects acid sphingomyelinase enzyme activity that has been associated with Niemann-Pick disease type A and type B.

Indications For Testing

This test may be appropriate for individuals with a clinical suspicion of Niemann-Pick disease type A and type B and/or individuals with a family history of this condition.

Niemann-Pick disease type A and type B are lysosomal storage disorders that has a wide range of symptoms that vary in severity. Symptoms of this condition may include hepatosplenomegaly, failure to thrive, loss of milestones, lung disease and a cherry-red spot on eye exam. Niemann-Pick disease types A and B is estimated to affect 1/250,000 individuals and is more frequent in the Ashkenazi Jewish population.

Test Methods and Limitations

Tandem mass spectrometry analysis can be coupled with liquid chromatography, a technique referred to as LC-MS/MS. In this methodology, chromatography is used to separate analytes of interest prior to measurement by the mass spectrometer. This separation reduces interference from matrix components and can also allow for the measurement of analytes that have the same mass (isobaric species), thereby improving analytical specificity compared to MS/MS.

Detailed Sample Requirements

Dried Blood Spots

Collection Container(s):

Dried blood spot card

Collection:

Follow kit instructions. Briefly, allow blood to saturate card until indicated areas are filled and blood has soaked through card. Air dry card at ambient temperature for at least 3 hours.

NBS: Please contact PKIG to request the StepOne^® kit.
Gene Sequencing: Please contact PKIG to request the DBS collection kit.
For pre-punched DBS: The required minimum 6 punches with 3.2 mm or 4 punches 4.75 mm.

Condition: Follow the instructions provided with the collection set. Store the dried blood at ambient temperature for up to two days. If the specimen cannot be sent as soon as it is dry, the filter paper should be placed in a sealable plastic bag and stored in a refrigerator (≤ 8°C) or preferably in a freezer.

Shipping: Follow kit instructions. Double bag and ship overnight at ambient temperature.

Whole Blood (EDTA)

Collection Container(s):

EDTA (purple top)

Collection:

Infants (< 2-years): 2 to 3 mL; Children (>2-years): 3 to 5 mL; Older children and adults: Minimum 5mL. The blood tube should be inverted several times immediately after blood collection to prevent coagulation.

Condition: Store at ambient temperature. Do not refrigerate or freeze.

Shipping: Ship overnight at ambient temperature ensuring receipt within 5-days of collection.

SPECIAL INSTRUCTIONS
Clotted or hemolyzed samples are not accepted.