|
|
Lab Dept:
|
Anatomic Pathology
|
Test Name:
|
WOLFRAM SYNDROME (WFS1) KNOWN MUTATION
|
General Information
|
Lab Order Codes:
|
WOLSK
|
Synonyms:
|
Hearing Loss Genes; WFS1; AD nonsyndromic deafness
|
CPT Codes:
|
83891 x2 – Isolation or extraction of highly purified nucleic acid
83894 x2 – Separation by gel electrophoresis
83898 x2– Amplification of patient nucleic acid, each nucleic acid sequence
83904 x4 – Mutation identification by sequencing, single segment, each segment
|
Test Includes:
|
Carrier testing for WFS1 is performed by DHPLC and sequencing.
|
Logistics
|
Test Indications:
|
Testing of a relative for a specific known mutation (carrier testing).
WFS1 encodes the protein Wolframin. Mutations in WFS1 cause deafness at the DFNA 6/14 locus. This type of deafness is characterized by an audioprofile that shows familial low-frequency hearing loss.
Mutations in WFS1 also cause Wolfram Syndrome (OMIM# 222300), a recessively inherited disorder with a phenotype that includes diabetes insipidus, diabetes mellitus, optic atrophy and deafness (also known as DIDMOAD syndrome). Studies have shown an association between WFS1 mutations and diabetes mellitus and psychiatric illness.
The gene, WFS1, contains 8 exons; exons 2 -7 encode the 890 amino acid protein Wolframin. The majority of mutations causing low frequency hearing loss are in the C-terminal portion of the protein; mutations causing Wolfram Syndrome are spread throughout the gene (Cryns et al., 2003).
|
Lab Testing Section:
|
Anatomic Pathology - Sendouts
|
Referred to:
|
University of Iowa, Dr. Richard Smith
|
Phone Numbers:
Minneapolis:
Saint Paul:
|
|
612-813-6280
|
651-220-6550
|
Test Availability:
|
Monday – Thursday, 24 hours
|
Turnaround Time:
|
3 months
|
Special Instructions:
|
Include clinical data, specifically audiograms, CT/MRI reports, and pedigree information. Include name, e-mail, and telephone number of contact person (physician or genetic counselor). Do NOT send on Friday or Saturday.
Please include a completed University of Iowa Request form with the patient or specimen to the laboratory. Informed consent is required.
|
Specimen
|
Specimen Type:
|
Whole blood
|
Container:
|
Lavender top (EDTA) tube
|
Draw Volume:
|
10 mL (Minimum 8 mL) blood
|
Processed Volume:
|
8 – 10 mL whole blood
|
Collection:
|
Routine venipuncture
|
Special Processing:
|
Send lavender tubes labeled with a minimum of Name, Date of Birth, and Sex. Include clinical data, specifically audiograms, CT/MRI reports, and pedigree information. Include name, e-mail, and telephone number of contact person (physician or genetic counselor). Mail overnight delivery at Room Temperature Monday - Thursday. Do Not send on Friday or Saturday. Samples may be refrigerated if delivery is delayed.
|
Patient Preparation:
|
None
|
Sample Rejection:
|
Specimens older than 48 hours; mislabeled or unlabeled specimens
|
Interpretive
|
Reference Range:
|
No abnormal allele variants detected
|
Methodology:
|
DHPLC and sequencing
|
References:
|
Clinical Diagnostics Service, Molecular Otolaryngology Research Lab information sheet from the University of Iowa. June 2010
(319) 335-7997 Fax: (319) 353-5869
|
Updates:
|
7/29/2010: CPT updates
|
