Frequently Asked Questions About Prenatal FSHD Testing

Required Information:
1. The 4q35 deletion must be known in the parent with FSHD; this may be the EcoRI restriction fragment size in
    kb or the number of residual D4Z4 repeats.
2. A new blood sample should be submitted from each parent. A new maternal sample is absolutely required. If the
    affected parent is the father, a paternal sample is also required; this may be either a new blood sample or a
    residual (stored) material from prior testing in the University of Iowa Molecular Pathology Laboratory.
3. Identify the gestational week of pregnancy.
4. Identify the prenatal sample type, either amniotic fluid or chorionic villi. Arrangements must be made by the
    referring institution for growing and expanding the cells into at least six, confluent T25 flasks for testing. The
    confluent T25 flasks are shipped to UI Diagnostic Laboratories. Keeping backup flasks are the referring
    institution is highly recommended.

FAQs:
Q: Will UI Diagnostic Laboratories accept cultures from another laboratory?
A: Yes. Please send cultured cells directly to:

UI Diagnostic Laboratories
200 Hawkins Drive 5231 RCP
Iowa City IA 52242

Q: Will you accept cells cultured from chorionic villus or amniotic fluid specimens?
A: Yes, we will accept either source of fetal cells. Please note that the time from specimen collection to FSHD
     testing results is approximately 6-8 weeks. The turn around time relies heavily on the rate at which the cultured
     cells grow to confluence in at least six T25 flasks.

Q: How many cultured cells does the lab need for testing?
A: Six, confluent T25 flasks are required for testing. Backup flasks held in the cell culture laboratory are highly
     recommended.

Q: Where do I send the specimens?
A: Please send the parental blood samples and the fetal cell cultures for the case directly to:

UI Diagnostic Laboratories
200 Hawkins Drive 5231 RCP
Iowa City IA 52242

Q: Do I need to send the mother's blood?
A: Yes. A maternal sample is required to rule out maternal cell contamination of the prenatal cell cultures.

Q: Do I need to send the affected parent's blood?
A: Yes. Parental samples are tested side by side with the prenatal specimen. Direct comparisons of the parental
     and fetal samples improves the accuracy of test interpretation.

Q: Do you need the prior test results of the affected parent?
A: Yes. The affected parent should always be tested to verify the diagnosis of FSHD1 prior to obtaining a prenatal
     sample.

Print the Prenatal FSHD Testing Requisition for detailed test information.

For additional assistance with specimen packaging and shipping, please call UIDL Client Services 1-866-844-2522.

If additional technical/clinical test information is needed, please contact: Dr. Deqin Ma, Molecular Pathology Laboratory Director, at PrenatalFSHDQuestions@healthcare.uiowa.edu.

University of Iowa Diagnostic Laboratories (UIDL)