Specimen Information

Mutation Analysis Test
for
Mucopolysaccharidosis typeI (IDUA),
Mucopolysaccharidosis typeII (IDS), or
Mucopolysaccharidosis typeIIIB (NAGLU)

SPECIMEN REQUIREMENTS: For each patient, the testing requires either:

15 cc EDTA (purple-top tubes) for direct analysis

- or -

2 flasks T-75 of cultured fibroblasts

Our laboratory will not expand a cell line or freeze a cell line. Therefore, please be sure to send a confluent flask of sufficient size, and freeze a reserve specimen of cultured cells at your institution in the event that another sample is required.

Before sending specimens, call Dr. Chet Whitley to schedule testing: (612) 625-7422 or (612) 626-3000 and request "Dr. Whitley on beeper number 8325".

COMPLETION OF FORMS: The enclosed forms must be completed, signed, and returned with the specimens (one set for each individual).

Patient Registration Mini-Form: The Patient Registration Mini-Form will allow us to generate a unique, permanent medical record for the patient at the University of Minnesota Hospital and Clinic, and dictate a Test Report which will be sent to the requesting physician, the medical record, and to the patient.

Billing Form: Please complete and return the attached form. With this information, an invoice will be sent to the ordering institution by University of Minnesota Clinical Associates when the Test Report is completed.

MAILING INSTRUCTIONS: The test is based upon recovery of a DNA which may be labile. Therefore, it is crucial that cells arrive undamaged and in viable condition. Please be sure that specimens are sent for next morning delivery (please specify before 10 AM) by Federal Express courier. Transport by other couriers is not acceptable because they deliver to a central loading dock at our institution; such specimens are typically delayed by an additional day!) Blood specimens must be sent in a leak-proof and temperature-resistant container (e.g., Styrofoam or bubble-pack) at room temperature. Do not pack in wet ice or dry ice. The address for specimens is:

Dr. Chester B. Whitley
University of Minnesota
PWB 13-146
516 Delaware Street SE
Minneapolis, MN 55455

CARRIER (HETEROZYGOTE) TESTING: We believe that our current method of sequencing will identify the mutation in virtually all affected individuals. However, "carrier testing" is not reliable because of the difficulties of simultaneous analysis to two alleles. Therefore, we are willing to attempt carrier testing, but will not guarantee results. Before obtaining a specimen, please advise the patient that carrier testing is most likely to be useful if the affected relative (i.e., proband) is known. Also, please advise the patient that the test report will indicate that such results should not be used for making decisions about pregnancy or reproduction. Other enzymatic methods are available to diagnose pregnancies using material from amniocentesis or chorionic villi sampling (CVS), and we will be glad to refer you to laboratories doing such testing.

PRENATAL DIAGNOSIS: We are not accepting specimens for prenatal diagnosis. Measurement of enzyme activity is offered as a prenatal diagnostic test by a number of other laboratories. We do not do this testing but would behappy to refer you to such laboratories.

RESULTS: We plan to have results for you in 3 weeks. Difficult mutations may take somewhat longer.


Chester B. Whitley, Ph.D., M.D.
Professor
Gene Therapy Program
Institute of Human Genetics, and
Division of Genetics and Metabolism
Department of Pediatrics
University of Minnesota Medical School
Phone: (612) 625-7422
E-mail: whitley@umn.edu
Web site: University of Minnesota Gene Therapy Program