Y Chromosome Micro Deletion Karyotyping Blood

Y Chromosome Micro Deletion Karyotyping test is used to analyze the blood sample of an individual for identifying whether the cause infertility is due to any chromosome disorders using certain visualization techniques like FISH, microarray, etc. This test is performed to diagnose a chromosomal abnormality or genetic disorder which might affect fertility in men. This tests are accurate and have a low rate of false positive results.

What is Karyotyping?

The process of examining the chromosomes in the obtained sample of cells/tissue is called karyotyping. This can be done using different methods which include microarray, FISH technique, etc.

What is the Y chromosome microdeletion?

Chromosomes carry all the genetic information regarding the synthesis and healthy functioning of an individual, Normal individual has 46 chromosomes which are interpreted as (44, XX) for females and (44, XY) in males. The X and Y chromosomes determine the sexual development and fertility of an individual.

The Y chromosome carries the genes which play a role in the production and formation of healthy sperm cells. The individuals with altered or deleted genes are unable to produce these proteins which affect their fertility and may cause conditions like azoospermia (The lack of sperm cells in semen) or oligospermia(very low sperm cell count or smaller than usual sperm cells). The most common gene microdeletions to be tested are Azoospermia factor or AZFa, AZFb, AZFc, AFZab, AZFabc. Individuals with Y chromosome microdeletions would be unable to father children on their own and can benefit from artificial fertilization techniques. Since the Y chromosome is present only in males, the genetic condition can be transferred from the father to the sons.

Why is this test recommended?

This test is recommended if the doctor suspects that the cause of infertility in an adult male is due to the chromosomal changes of the Y chromosome and along with certain signs and symptoms such as similar illness in the family, very low to none in terms of sperm cell count, failure to have children in the past, etc

The positive test results may indicate the absence/alterations in the Y chromosome of the individual leading to the infertility condition.

The negative result or normal pattern of chromosomes may indicate that the likelihood of having Y chromosome disorder is less and may require further tests to identify the cause of infertility.

Based on the test results, your doctor may advise you appropriate medical treatments or further diagnostic tests.