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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 below 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 experience, 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 clinical/genetic history along with each sample.

The TJU Lab will process your sample in a week (other labs typically takes weeks or months). Please have your lab coordinate the timing of your sample's arrival to be in line with the JFY weekly testing schedule (samples must usually arrive early Wednesday to get results on Thusday).

If you are trying to confirm a diagnosis of MLD you must have both the Lysosomal Enzyme Screen and Urinary Sulatide tests. A Mutation analysis is desired but not absiolutly required. It may tell you some about the progression of the disease. If your insurance will cover the mutation analysis it is ood to do.

Please send a copy of all test resuls to MLD Foundation to add to our natural history and mutation analysis registry.

DIAGNOSTIC TESTING using Dr. Wenger's lab*:

ARSA Blood Enzyme (required)
- Lysosomal enzyme screen (blood arylsulfatase A testing): $800**

Urinary Sulfatide (required)
A confirming urinary sulfatide test is required to confirm MLD/MSD. This confirms MLD and eliinates pseudo-deficiency. $300** (required)

Mutation analysis (desired)
Limited ($150) or complete ($600) mutation analysis of the arylsulfatase A (MLD) gene. We highly recommend a mutation analysis as it may help with subsequent familial analysis, and while we do not know a lot about genotype/phenotype correlations, every bit of data helps us build stronger correlations, and perhaps we might be able to infer something about your loved one's potential progress buy their mutations.

Other tests (optional):
- Lysosomal enzyme screen (blood arylsulfatase A testing): $800**
- 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

  • * Disclaimer - Dr. Wenger, who runs the Lysosomal Diseases Lab at Thomas Jefferson University is a member of 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 September, 2014. 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 Lysosomal Disease Laboratory at Laboratory 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


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