Y Chromosome Microdeletion Analysis

Whole blood or PurFlock buccal swab kit (buccal swab collection kit contains instructions for use of a buccal swab) or saliva collected in an Oragene Dx 500 saliva collection kit

5 mL whole blood or PurFlock buccal swab kit or 2.0 mL saliva

2 mL whole blood or PurFlock buccal swab kit or 0.5 mL saliva

Lavender-top (EDTA) tube, pink-top (EDTA) tube, tan-top (EDTA) tube, yellow-top (ACD) tube or PurFlock buccal swab kit or Oragene Dx 500 saliva collection kit

This test identifies Y microdeletions associated with male infertility to support diagnosis and determine genetic basis of laboratory findings. It may provide information about prognosis.

Deletions of all or part of three azoospermia factor chromosome regions located on the Y chromosome (Yq11.23), designated AZFa, AZFb, and AZFc, are detected in approximately 5% of individuals with clinical symptoms ranging from azoospermia to oligospermia. AZFa deletions are usually associated with Sertoli cell-only syndrome and azoospermia. AZFb or AZFb+c deletions are usually associated with severe azoospermia. AZFc deletions may be associated with oligospermia, Sertoli cell-only syndrome and azoospermia. In vitro fertilization using intracytoplasmic sperm injection may be successful in individuals with AZFc deletions. AZFc deletions may be passed down to offspring conceived by intracytoplasmic sperm injection.

False positive or negative results may occur for reasons that include genetic variants, blood transfusions, bone marrow transplantation or erroneous representation of family relationships.

This test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the Food and Drug Administration.

Multiplex polymerase chain reaction (PCR) using primers corresponding to the following sequence tagged sites (loci) on the Y chromosome: SY14(SRY), SY81(DYS271), SY86(DYS148), SY84(DYS273), SY182 (KALY), SY121(DYS212), SYPR3(SMCY), SY124(DYS215), SY127(DYS218), SY128(DYS219), SY130(DYS221), SY133(DYS223), SY134(DYS224), SY145(DYF51S1), SY152(DYS236), SY242(DAZ), SY208(DAZ), SY254(DAZ), SY255(DAZ), SY157(DYS240), and controls SMCX and ZFX/ZFY.

Do not eat, drink, smoke or chew gum 30 minutes prior to saliva sample collection. See Oragene Dx 500 saliva kit for detailed instructions.