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If you have additional questions regarding this test, please call: 415-353-1667
|Performed by||Stanford Hospital Clinical Laboratory|
|Method||PCR and Gene sequencing|
|Collection Instructions||If collecting in citrate, check the expiration date on the label of the blue top vacutainer before drawing the patient.
Patient insurance billing information MUST accompany test request when specimen is collected. Patient will be billed by Stanford Clinical Laboratory. (requires 7 mL whole blood, minimum: 3 mL)
|Container type||Lavender top, Blue (citrate) and Yellow (ACD) tops acceptable|
|Amount to Collect||3 mL blood|
|Sample type||Whole blood|
|Preferred volume||3 mL blood (7 mL for B&T patients)|
|Min. Volume||2 mL blood (3 mL for B&T patients)|
|UCSF Rejection Criteria||Samples collected in outdated blue top vacutainer.|
|Processing notes||Do not centrifuge the specimen. Store at room temperature. Refrigerated samples are acceptable.
Brown & Toland patients must be sent to LabCorp, order test #511920
|Normal range||Mutations not detected|
|Synonyms||Connexin 26 Sequencing|
|Turn around times||7-14 days|
|Additional information||The connexins are a family of proteins that are present in gap junctions of adherent cells. A common frameshift mutation (35 delG) in the GJ2B gene that codes for connexin 26 was found to occur at a carrier frequency of approximately 1-3% in Europe and segregated worldwide in families with nonsyndromic recessive deafness. Another frameshift mutation (167 delT) is present at a carrier frequency of approximately 4% among Ashkenazi-Jewish individuals. This assay will test for both mutations, which are deleterious when detected either in homozygous form or in combination with one another. These two mutations account for approximately 23% of congenital deafness in Mediterranean and Ashkenazi Jewish populations.
If a mutation is detected it is recommended that the patient seek genetic counseling.
This test was developed, and its performance characteristics determined, by the Clinical Laboratories at the Medical Center at UC San Francisco. It has not been cleared or approved by the U.S. Food and Drug Administration.
|CPT coding||83891-90, 83894-90, 83898-90, 83904-90 x4, 83912-90|
|Last Updated||10/2/2010 11:52:20 AM|