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- 5T Allele Genotyping
- Congenital Bilateral Absence of the Vas Deferens (CBAVD)
Detect congenital bilateral absence of the vas deferens (CBAVD) (OMIM 277180); refine the clinical impact of an identified R117H CF mutation
Routine screening for the 5T allele in the cystic fibrosis (CF) gene as part of standard CF carrier screening is not recommended since the goal of carrier screening is to identify couples at risk for having children with cystic fibrosis. The 5T allele is associated primarily with male infertility or atypical symptoms, although many individuals are asymptomatic. Analysis of the 5T allele may be a useful adjunct to the standard CF panel of 32 mutations (480533) in patients with male infertility or idiopathic pancreatitis. Genetic counseling is recommended for any person testing positive for the 5T variant.
Polymerase chain reaction (PCR) and a solution-phase multiplex allele-specific primer extension with subsequent hybridization to a bead array followed by fluorescence detection.
Whole blood, amniotic fluid, chorionic villus sample (CVS) (submission of maternal blood is required for fetal testing), or LabCorp buccal swab kit (buccal swab collection kit contains instructions for use of a buccal swab)
7 mL whole blood, 10 mL amniotic fluid, 20 mg CVS, or LabCorp buccal swab kit
3 mL whole blood, 5 mL amniotic fluid, 10 mg CVS, or two buccal swabs
Maintain specimen at room temperature.
Causes for Rejection
Frozen specimen; hemolysis; quantity not sufficient for analysis; improper container; one buccal swab; wet buccal swab
Whole blood tube should be sent to the lab unopened. It is preferable not to perform additional testing on original tubes prior to PCR testing. A completed screening questionnaire must accompany specimens. Call 800-345-4363 to request forms, or photocopy the Cystic Fibrosis Screening Questionnaire from the Genetics Appendix online.
|Order Code||Order Code Name||Order Loinc||Result Code||Result Code Name||UofM||Result LOINC|
|480970||5T Allele Genotyping||480978||5T Allele Genotyping||34729-4|
|480970||5T Allele Genotyping||480977||Comment:||77202-0|
|480970||5T Allele Genotyping||511938||51969-4|