Niemann-Pick disease, DNA analysis-13564

Test info

  
Niemann-Pick disease, DNA analysis
  
13564
  
LAB13564
  
NPD
  
Acid Sphingomyelinase gene
Jewish heritage test
  

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

Specimen

  
EDTA whole blood
  
  
7.0 mL
  
3.0 mL
  

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

  

Lavender (EDTA), 10mL

 

  
ACD whole blood
Amniotic fluid
CVS
  

ACD whole blood:

Yellow ACD (A or B)

 

 

Amniotic fluid:

Sterile vial/container

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

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

  

Molecular Medicare Billing Request

Hospital clients submitting a request for this assay on an outpatient with Medicare should complete and submit a Molecular Medicare billing request form to notify us of the need for Allina Health Laboratory to bill insurance.

  

Ambient

Refrigerated

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

Performance

  
LabCorp RTP (511329): R-LC
  
Two (2) times per week, or as needed
  
9 - 15 days
If cultured cells are needed, an additional 7-12 days may be required
  

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

Clinical and Interpretive info

  

An interpretive report will be provided

  

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.

Billing

  
This test may require preauthorization from the insurance provider. Check the payer guidelines and, if needed, obtain the pre-authorization prior to sample collection.
  
81330
  
Yes
  
Result 32641-3
  

Medical necessity

Hospital clients submitting a request for this assay on an outpatient with Medicare should complete and submit a Molecular Medicare billing request form to notify us of the need for Allina Health Laboratory to bill insurance.

Molecular Medicare Billing Request

Tracking

  
04/10/2019
  
05/23/2024
  
04/11/2022