Please see our disclaimer about how to use this information.

* Print this page to help your local doctors and labs to prepare your test samples.. If they need help in knowing what to do or additional resources please use the following guidelines and contacts.

Blood & Urine testing are complimentary to each other. Usually a blood test is done first, followed by a urine test to confirm the presence of sulfatides.

It has been the experience of the MLD Family members that test results vary widely from lab to lab - so please talk with your doctor about this ahead of time.

We recommend Dr. Wenger's lab at Thomas Jefferson University for both blood & urine testing as they are very familiar with MLD and their results are well understood. They accept blood from anywhere including internationally - but it is recommended that you instruct your lab to contact them first to make sure that they provide all of the necessary information and to let them know that you are sending them a sample.

The recommended procedure using Dr. Wenger's lab is as follows:

• Blood Test Procedure.
  • The cost of a MLD patient screen is $500* and includes blood arylsulfatase A testing. Subsequent DNA analysis of the arylsulfatase A gene to identify the pseudodeficiency allele and the two most common mutations causing late infantile and adult MLD are $75 each*. The DNA analysis is optional.
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• Urine Test Procedure:
  • Subsequent to a blood test there can also be a urine test to check for the presence of sulfatides. Their presence confirms that it is MLD and not pseudo-deficiency. The cost of a MLD urine sulfatide test is $200*.
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    * prices current as of 3/06, price list dated April 2002. The TJU lab does not accept insurance. They will bill your lab which should accept your insurance.
    
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• Please click here for details, procedure, forms, FAQ, etc. about testing at Thomas Jefferson University.
  • Contact Information:
    Jefferson Medical College
    Lysosomal Diseases Testing Laboratory
    Attn: David Wenger
    1020 Locust Street Suite 394
    Philadelphia PA 19107-5563
    Tel: 215-955-4923
    Fax: 215-955-9554
    e-mail: david.wenger@jefferson.edu .

URINE Testing

There is a lab in Minnesota running urine sulfatides (but not white cell enzymes) so if you wish to test urine only then follow this procedure:

• Please contact the lab before sending a sample:
  Fax 612-624-9970
  
  
• Procedure:
  40-60 ml (2 oz) of morning time urine frozen via Federal Express
  
  
• Contact Information:
  University of Minnesota Medical Center
  Attn: Kerrie Schictenberg
  5th Floor Mayo Bldg
  420 Delaware St. S.E.
  Minneapolis MN 55455
  Fax 612-624-9970