Infertility-Male, Y Deletion Analysis

Alphabetical Test listing

Infertility-Male, Y Deletion Analysis-994

Infertility-Male, Y Deletion Analysis
AZF testing reflex
Azo spermia reflex
Normal chromosomes reflex to Y deletion
Oligospermia reflex
Y Deletion reflex

Determine the genetic basis for oligospermia or azoöspermia. Azoöspermia may also be associated with cystic fibrosis mutations, primarily the 5T allele.

Detection of the following long-arm Y chromosome loci: DAZ, SPGY, DYS209, DYS224, DYS273, DYS275

EDTA whole blood
ACD whole blood - Yellow


7 mL
2.0 mL

Submit specimen in original collection tube; do not spin


Lavend (EDTA) tube

Yellow (ACD) tube



Frozen - NO


Frozen or hemolyzed specimen; improper container; quantity not sufficient for analysis

LabCorp Burlington (512053): R-NX
We (1x/week, or as needed)
7 - 14 days

Polymerase chain reaction (PCR) to detect the presence/absence of long-arm Y chromosome loci (DAZ, SPGY, DYS209, DYS224, DYS273, DYS275)


See report


Genes associated with normal spermatogenesis are located on the proximal long arm of the Y chromosome (OMIM 601486). The loss of the proximal Y long arm has been reported in approximately 7% of infertile men. These de novo deletions occur during paternal meiosis. The deletions of the distal AZFc region are associated with oligospermia, whereas, more proximal deletions of the AZFa and AZFb regions are associated with azoöspermia (Sertoli cell-only syndrome). Klinefelter (47,XXY) syndrome and cystic fibrosis mutations (particularly the 5T allele) are also associated with azoospermia. Balanced chromosomal rearrangements are also associated with oligospermia.

Result 51969-4