Y Chromosome Microdeletion
Ordering Recommendation

Aids in determining the cause of azoospermia or oligospermia and helps predict effectiveness of assisted reproductive technologies in men with Y chromosome microdeletions.

Polymerase Chain Reaction/Electrophoresis
Tue, Fri
7-10 days
New York DOH Approval Status
This test is New York DOH approved.
Submit With Order
Specimen Required
Patient Preparation
Lavender (EDTA) or pink (K2EDTA). Also acceptable: Yellow (ACD Solution A or B), lt. blue (sodium citrate), green (sodium or lithium heparin). 
Specimen Preparation
Do not freeze. Transport 3 mL whole blood. (Min: 1 mL) 
Storage/Transport Temperature
Unacceptable Conditions
Serum. Frozen specimens. Severely hemolyzed specimens. 
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable 
Reference Interval
By report
Interpretive Data
Background Information: Y Chromosome Microdeletion
Characteristics: Y chromosome microdeletions are typically characterized by azoospermia, severe to moderate oligospermia, or abnormal sperm morphology/motility in men with a normal physical evaluation. Assisted reproductive techniques are contraindicated for men carrying AZFa, AZFb, AZFbc or AZFabc microdeletions, which are classically associated with spermatogenic failure.
Prevalence: 1 in 2,000 to 3,000 males carry Y chromosome deletions/microdeletions.
Penetrance: Approaches 100 percent in males; variable expression may result in intra-familial variation of fertility in men with an identical microdeletion.
Inheritance: Y-linked; microdeletions are typically de novo.
Cause: Microdeletions of the Y chromosome azoospermia factor regions a, b or c (AZFa, AZFb or AZFc).
Mutations Tested: Five common Y chromosome microdeletions: AZFa, AZFb, AZFc, AZFbc, and AZFabc.
Clinical Sensitivity: Estimated at 5 to 10 percent for men with non-obstructive azoospermia or severe oligospermia.
Methodology: Multiplex polymerase chain reaction (PCR) followed by electrophoresis.
Analytical Sensitivity and Specificity: Greater than 99 percent.
Limitations: Diagnostic errors can occur due to rare sequence variations. Mutations within individual genes included in the AZF regions will not be detected. Breakpoints of identified microdeletions will not be determined. Male infertility due to causes other than Y chromosome microdeletions tested, has not been excluded.

Compliance Statement C: For human genetic inheritable conditions and mutations. This test was developed and its performance characteristics determined by ARUP Laboratories. The U. S. Food and Drug Administration has not approved or cleared this test; however, FDA clearance or approval is not currently required for clinical use. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Hotline History
Component Test Code*Component Chart NameLOINC
2001779Y CHROM Specimen31208-2
2001781Y Chromosome Result35456-3
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.