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Testing & Labs

Please see our disclaimer about how to use this information.

Recommended Blood & Urine Testing Procedure

* 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.

A current listing of CLIA certified labs around the world testing for MLD can be found here. Please see our comments beleow about the Lysosomal Diseases Laboratory at Thomas Jefferson University.

There is a much shorter list of labs testing for Saposin B Deficiency.

Lysosomal Diseases Lab at Thomas Jefferson University

We recommend Dr. Wenger's lab at Thomas Jefferson University* (click for more info) for both blood & urine testing as they are very familiar with MLD and they have a lot of exexperience, their results are very consistent, and they understand not just genetic testing but they also understand MLD. 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 TJU lab requires some clicnical/genetic history along with each sample.

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

Blood Test Procedure:*

Lysosomal enzyme screen (blood arylsulfatase A testing): $700**
Carrier testing for parents of a patient TJU diagnosed: No Charge
Testing for one disease because of family history: $300
Enzymatic testing for potential hematopoietic stem cell donors and follow-up on recipients: $300

The DNA (mutation) analysis is optional and additional (in 2008 the price was $1900 - please check with the lab for current pricing).

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 confirming MLD urine sulfatide test is $250**.

  • * Disclaimer - Dr. Wenger, who runs the Lysosmal Diseases LAb at Thomas Jefferson University is a member of the MLD Foundation's Medical Advisory Board. This is an indication of the degree of respect we have for his Lysosomal Disease research experience as well as his expertise in diagnostic testing. We've met hundreds of families over the years and find his testing to be the most thorough and consistent. However, as always, please check with your local medical team before proceeding with any test or making any medical decisions.

  • ** prices current as of 9/10. The TJU lab does not accept insurance. They will bill your lab which may accept your insurance and they accept VISA/MasterCard.

Please click here for more details, procedure, forms, FAQ, etc. about testing at the Lysosmal Disease Laboratory at Lbaoratory 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

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


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