Facioscapulohumeral Dystrophy (FSHD) Information

University of Iowa Diagnostic Laboratories (UIDL)

Department of Pathology
Room 5231, RCP
Iowa City, Iowa 52242-1181
319-384-7212 Tel
319-384-7213 Fax

FACIOSCAPULOHUMERAL DYSTROPHY (FSHD) INFORMATION
Sample: Adults - 3 mL whole blood in lavender top tube (EDTA)
Children - 2 mL whole blood in lavender top tube (EDTA)
Testing on smaller volumes than those requested will be attempted. However, in some cases, small blood volumes may compromise the ability to perform testing. Testing requires a dedicated collection tube.




Ship to: University of Iowa Hospitals and Clinics
Department of Pathology
Client Services, Room 5231 RCP
200 Hawkins Drive
Iowa City, IA 52242




Shipping Requirements: Overnight delivery with hazardous material precautions. Monday through Friday delivery only, ambient temperature. Samples that cannot arrive Monday through Friday should be stored at refrigerator temperature until shipped to arrive M-F.




Please include:

Specimen Information: All information must be provided before testing is performed
Patient full name (Last, First, MI)
Patient identifier
Date of birth and sex
Date and time of collection
Ordering physician




Billing Information: Please see Billing and Collection Policies




Reporting Information: Because of confidentiality issues, the report will not be released to any other individual or institution than is listed on this form.
Physician or institution to send report to
Address to send report to
Phone number of individual or institution above
Fax number to send report to if desired




Turn Around Time: 14-21 days




CPT Codes: 83890, 83892(x 3), 83894(x 2), 83896(x 2), 83897(x 2), 83912




Background: Approximately 90% of individuals affected with FSHD have a chromosome 4q35 deletion. The identification of a characteristic 4q35 deletion is more than 90% specific for the disease.

We extract DNA from peripheral blood leukocytes and digest with specific restriction enzymes. The restriction fragments are detected by Southern blot probed with p13E-11. Both pulsed field gel electrophoresis and dosage testing are performed.




References: Wijmenga et al. Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy. Nature Genetics 2:26-30, 1992.

van Deutekon et al. FSHD associated DNA rearrangements are due to deletions of integral copies of 3.2 kb randomly repeated unit. Human Molecular Genetics 2:2037-2942, 1993.

Deidda et al. Direct detection of 4q35 rearrangements implicated in facioscapulohumeral muscular dystrophy (FSHD). J. Med. Genetics 33:361-365, 1996.

van Deere Maarel et al. A new dosage test for subtelomeric 4;10 translocations improves conventional diagnosis of facioscapulohumeral muscular dystrophy (FSHD). J. Med. Genetics 36:823-828, 1999.




Contact Information: UIDL Client Services
319-384-7212 (local)
1-866-844-2522 (toll-free)

Southern Blot Procedure and Interpretation
Steven A. Moore, MD, PhD
319-384-9084
   or
Molecular Pathology Laboratory
319-384-9568

Clinical and Genetic Counseling
Katherine D. Mathews, MD
319-356-1851
   or
Christina Trout, RN
319-356-1851
06/08

Sample:	Adults - 3 mL whole blood in lavender top tube (EDTA) Children - 2 mL whole blood in lavender top tube (EDTA) Testing on smaller volumes than those requested will be attempted. However, in some cases, small blood volumes may compromise the ability to perform testing. Testing requires a dedicated collection tube.

Ship to:	University of Iowa Hospitals and Clinics Department of Pathology Client Services, Room 5231 RCP 200 Hawkins Drive Iowa City, IA 52242

Shipping Requirements:	Overnight delivery with hazardous material precautions. Monday through Friday delivery only, ambient temperature. Samples that cannot arrive Monday through Friday should be stored at refrigerator temperature until shipped to arrive M-F.

Please include:
Specimen Information:	All information must be provided before testing is performed Patient full name (Last, First, MI) Patient identifier Date of birth and sex Date and time of collection Ordering physician

Billing Information:	Please see Billing and Collection Policies

Reporting Information:	Because of confidentiality issues, the report will not be released to any other individual or institution than is listed on this form. Physician or institution to send report to Address to send report to Phone number of individual or institution above Fax number to send report to if desired

Turn Around Time:	14-21 days

CPT Codes:	83890, 83892(x 3), 83894(x 2), 83896(x 2), 83897(x 2), 83912

Background:	Approximately 90% of individuals affected with FSHD have a chromosome 4q35 deletion. The identification of a characteristic 4q35 deletion is more than 90% specific for the disease. We extract DNA from peripheral blood leukocytes and digest with specific restriction enzymes. The restriction fragments are detected by Southern blot probed with p13E-11. Both pulsed field gel electrophoresis and dosage testing are performed.

References:	Wijmenga et al. Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy. Nature Genetics 2:26-30, 1992. van Deutekon et al. FSHD associated DNA rearrangements are due to deletions of integral copies of 3.2 kb randomly repeated unit. Human Molecular Genetics 2:2037-2942, 1993. Deidda et al. Direct detection of 4q35 rearrangements implicated in facioscapulohumeral muscular dystrophy (FSHD). J. Med. Genetics 33:361-365, 1996. van Deere Maarel et al. A new dosage test for subtelomeric 4;10 translocations improves conventional diagnosis of facioscapulohumeral muscular dystrophy (FSHD). J. Med. Genetics 36:823-828, 1999.

Contact Information:	UIDL Client Services 319-384-7212 (local) 1-866-844-2522 (toll-free) Southern Blot Procedure and Interpretation Steven A. Moore, MD, PhD 319-384-9084 or Molecular Pathology Laboratory 319-384-9568 Clinical and Genetic Counseling Katherine D. Mathews, MD 319-356-1851 or Christina Trout, RN 319-356-1851