Do not perform genetic testing for Y chromosome microdeletions as a screening test for all male patients with reproductive problems

Type of practice

Laboratory tests



Topic Area

Human Genetics

Microdeletions of the Y chromosome are long arm submicroscopic alterations that cause the loss of different genes for the control of spermatogenesis. These microdeletions, “de novo” in most cases, can cause alterations in spermatogenesis ranging from complete azoospermia to severe oligozoospermia. The detection rate (DR) of this type of test is about 10% when performed on selected patients, so when the test is used with “diagnostic” value. Conversely, if the test is used as a “screening” test for all male patients with reproductive problems, the DR drops below 2%.
Good practice: do not require the test for the detection of Y microdeletions in normospermic patients, with mild oligozoospermia (sperm count >15ML/ml) or with obstructive azoospermia, even if initiated to a path of Medically Assisted Reproduction (MAP), and in any case before having excluded the presence of karyotype abnormalities or non-genetic causes of sterility.


1. Molecular and clinical characterization of Y chromosome microdeletions in infertile men: a 10-year experience in Italy. Ferlin A, Arredi B, Speltra E, Cazzadore C, Selice R, Garolla A, Lenzi A, Foresta C. J Clin Endocrinol Metab. 2007 Mar;92(3):762-70.
2. Genetic testing in couples undergoing assisted reproduction technique protocols
Stuppia L, Gatta V, Antonucci I, Giuliani R, Scioletti AP, Palka G. Expert Opin Med Diagn. 2009 Sep;3(5):571-83.
3. Linee Guida SIGU su “ Test genetici nel percorso della procreazione medicalmente assistita (PMA)



Attention. Please note that these items are provided only for information and are not intended as a substitute for consultation with a clinician. Patients with any specific questions about the items on this list or their individual situation should consult their clinician.