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Diagnostic Tests

Y Chromosome Micro Deletion FISH

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Y Chromosome Micro Deletion FISH

Also known as Y Chromosome Micro Deletion Fish Blood
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What is this test?

Y Chromosome Microdeletion FISH blood test is used to analyze the blood of an individual for identifying whether the cause infertility is due to any chromosome disorders using FISH (Fluorescence in-situ Hybridisation). This test is performed to diagnose a chromosomal abnormality or genetic disorder which might affect fertility in men. This test is accurate and has a low rate of false positive results.

What is FISH test?

Fluorescence In-Situ Hybridisation or FISH, in short, is a procedure used to picture the chromosomes (genetic material) of an individual. This test is useful in identifying various genetic diseases which may have been caused due to duplication, deletion, or misarrangement in chromosomes.

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 adult male is due to the chromosomal changes of the Y chromosome and along with certain signs and symptoms such as similar illness in family, very low to none in terms of sperm cell count, failure to have children in the past, etc.

Test Preparation

Inform your doctor if you are on any medications, have any allergies or underlying medical conditions before your Y Chromosome Micro Deletion FISH. Your doctor will give specific instructions depending on your condition on how to prepare for Y Chromosome Micro Deletion FISH.

Understanding your test results

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.

GenderAge groupsValue
MALEAll age groupsY chromosome deleted in positive cases
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