Test Details
Methodology
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.
Result Turnaround Time
7 - 14 days
Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.
Use
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.
Limitations
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.
Custom Additional Information
Do not eat, drink, smoke or chew gum 30 minutes prior to saliva sample collection. See Oragene Dx 500 saliva kit for detailed instructions.
Specimen Requirements
Specimen
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
Volume
5 mL whole blood or PurFlock buccal swab kit or 2.0 mL saliva
Minimum Volume
2 mL whole blood or PurFlock buccal swab kit or 0.5 mL saliva
Container
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
Collection Instructions
Ship overnight at room temperature.
Stability Requirements
Temperature | Period |
|---|---|
Room temperature | Whole blood: 14 days; buccal: 60 days; saliva: 60 days |
Refrigerated | 30 days |
Storage Instructions
Maintain specimen at room temperature or refrigerate at 4°C. Do not freeze.
Causes for Rejection
Frozen specimen, hemolysis, quantity not sufficient for analysis, improper container, specimen age outside of stability window
References
LOINC® Map
| Order Code | Order Code Name | Order Loinc | Result Code | Result Code Name | UofM | Result LOINC |
|---|---|---|---|---|---|---|
| 512116 | Y Chromosome Microdeletion | 35456-3 | 512117 | Y Chromosome Microdeletion | 35456-3 | |
| 512116 | Y Chromosome Microdeletion | 35456-3 | 511945 | 51969-4 | ||
| Order Code | 512116 | |||||
| Order Code Name | Y Chromosome Microdeletion | |||||
| Order Loinc | 35456-3 | |||||
| Result Code | 512117 | |||||
| Result Code Name | Y Chromosome Microdeletion | |||||
| UofM | ||||||
| Result LOINC | 35456-3 | |||||
| Order Code | 512116 | |||||
| Order Code Name | Y Chromosome Microdeletion | |||||
| Order Loinc | 35456-3 | |||||
| Result Code | 511945 | |||||
| Result Code Name | ||||||
| UofM | ||||||
| Result LOINC | 51969-4 |