Niemann-Pick disease, DNA analysis

Alphabetical Test listing

Niemann-Pick disease, DNA analysis-13564

Test name:

Test number:

13564

Excellian order number:

LAB13564

Abbreviation:

NPD

Alternate names:

Acid Sphingomyelinase gene
Jewish heritage test

Useful for:

Identification of carrier and affected individuals for four mutations associated with Neimann-Pick disease, types A and B.

Specimen type:

EDTA whole blood

Collection container:

Lavender (EDTA), 10mL

Volume:

7.0 mL

Minimum volume:

3.0 mL

Collection instructions:

Immediatley following collection, mix sample by inverting 8 - 10 times to prevent clotting

Transport container:

Lavender (EDTA), 10mL

Alternate specimen type:

ACD whole blood
Amniotic fluid
CVS

Alternate collection container:

ACD whole blood:

Yellow ACD (A or B)

Amniotic fluid:

Sterile vial/container

Alternate specimen volume:

Amniotic fluid - 10 mL (minimum 5 mL)
CVS - 20 mg (minimum 10 mg); submission of maternal blood is required for fetal testing

Alternate transport container:

Yellow ACD (A or B) or sterile vial/container

Transport and stability:

Ambient

Refrigerated

Reason for rejection:

Frozen specimen
Hemolysis
Quantity not sufficient for analysis (QNS)
Improper container/anticoagulant

Performing lab:

LabCorp RTP (511329): R-LC

Days set up:

Two (2) times per week, or as needed

TAT:

9 - 15 days
If cultured cells are needed, an additional 7-12 days may be required

Method:

Polymerase chain reaction (PCR); primer extension; flow- sorted bead array analysis

Reference ranges:

An interpretive report will be provided

Clinical information:

Prenatal testing is available.Niemann-Pick disease (OMIM 257200 & 607616) is a lysosomal storage disorder that is characterized by failure to thrive and hepatosplenomegaly. There are at least five different reported subtypes. This test only analyzes mutations found in types A and B and has a detection rate of 95% for Ashkenazi Jewish individuals. Approximately 1 in 90 persons of Ashkenazi Jewish descent are carriers for Niemann-Pick disease. Type A is the infantile form that generally leads to death in early childhood. Type B is often called the chronic or non-neuropathic form in which affected individuals have absence of neurologic involvement and prolonged survival. Type C has a slower onset of symptoms and is considered the juvenile form. Type D appears to beisolated to a certain population in Nova Scotia, and Type E is adult-onset Niemann-Pick. This test does not provide information about types C, D and E. This test has limited value for people of non-Ashkenazi Jewish ancestry, as the mutation detection rate is negligible. DNA test results must be combined with clinical information for the most accurate interpretation.

Preauthorization:

This test may require preauthorization from the insurance provider. Check the payer guidelines and, if needed, obtain the pre-authorization prior to sample collection.

CPT codes:

81330

Subject to medical necessity (Y/N):

Yes

LOINC code:

Result 32641-3

Other billing information:

Medical necessity

Hospital clients submitting a request for this assay on an outpatient with Medicare should complete and submit a Molecular Medical billing request form along with the sample.

Complete and submit the form to notify us of the need for Allina Health Laboratory to bill insurance for Molecular testing performed
All information requested is required in order for your request to be completed

Molecular Medicare billing request

Date created:

04/10/2019

Revised date:

06/23/2023

Review date:

04/11/2022