Y Chromosome Microdeletion
2001778
Ordering Recommendation
 
Mnemonic
Y CHROM
Methodology
Polymerase Chain Reaction/Electrophoresis
Performed
Tue, Fri
Reported
7-10 days  
New York DOH Approval Status
This test is New York DOH approved.
Specimen Required
Patient Preparation
  
Collect
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
Refrigerated.  
Unacceptable Conditions
Serum. Frozen specimens. Severely hemolyzed specimens.  
Remarks
  
Stability
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.





See Compliance Statement C: www.aruplab.com/CS
Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test; however, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
 
Note
 
CPT Code(s)
81403
Components
Component Test Code*Component Chart Name
2001779Y CHROM Specimen
2001781Y Chromosome Result
* 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.
Aliases