Test panel for the genetic background of male infertility

499.00 

 

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The Male Infertility Test Panel is designed to detect the causes of and predispositions to infertility.

Infertility is the inability to get pregnant as well as to carry the pregnancy to term. Nowadays this problem affects approx. 16% of all couples of reproductive age. It affects equally both women and men. A significant role in the development of infertility is played by the genetic background. The modern diagnostics, using the tools of molecular biology, allows to determine whether infertility could result from the presence of adverse genetic variants.

 

Otrzymaj Wednesday, 29 January, Zamów w ciągu
SKU: 4206 Category:
 

Description

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Perform this test if:

  • Your general semen analysis confirmed low sperm count (<15 million/mL) and increased serum FSH level
  • You are going to undergo assisted reproduction procedure

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Detection of deletion in the AZF region

The test allows to detect microdeletions in the AZF (azoospermia factor) regions located in the long arm of the Y chromosome and undetectable with cytogenetic techniques, and to determine whether the male infertility has genetic background. In the AZF region of the Y chromosome there are genes coding proteins involved in spermatogenesis, i.e. the process of the production of sperm cells.

The presence of microdeletions in the AZF region of the Y chromosome causes the dysfunctions of proteins responsible for the proper production of male gametes and belongs to the genetic factors of the development of male infertility. It is considered that approximately 25% of men with fertility disorders have microdeletions within the AZF regions of the Y chromosome. Mutations (deletions) in the AZF regions are responsible for impaired semen parameters, i.e. so-called azoospermia or severe oligospermia, meaning lack of or a very low number of sperm cells in the semen. Changes in the AZF gene are inherited in the male line.

Detection of 2 mutations in CFTR gene

This test consists in the analysis of basic mutations in the CFTR gene.

It covers two changes within the CFTR gene which are most common in the Polish population: delF508 and dele 2,3, accounting for approx. 60% of all mutations. Mutations in the CFTR gene are a cause of cystic fibrosis. The CFTR gene is located on the chromosome 7 and encodes a membrane protein that forms a chloride channel. Cystic fibrosis is one of the most common genetic disorders that is inherited in a recessive autosomal pattern. In the Polish population its incidence is 1 per 2500 of births. A broad spectrum of symptoms of cystic fibrosis is caused by the production of abnormally viscous mucus in all body organs with mucous glands. This leads to changes mainly in respiratory, digestive and reproductive system. Changes in the reproductive system cause bilateral absence or obstruction of vasa deferentia (CAVD, Congenital Absence of the Vas Deferens) in men, while in women they cause an increase in the density of cervical mucus, thereby hindering migration of the sperm. It is estimated that in Poland approximately 1.5 million people are asymptomatic carriers of mutations in the CFTR gene. Therefore a positive result of the test for CFTR in one of the partners indicates the need to test the other one. Determination who is the carrier of a disease in a given couple allows to estimate the risk

Additional information

TEST METHOD

PCR, Real-Time

CONTENTS OF THE SET

Test tube – 1 pc, screw cap – 1 pc, funnel with preservative fluid – 1 pc, instructions for material collection – 1 pc, set of barcodes (test identification code), referral for genetic testing – 1 pc.

REFERRAL FOR TESTING

Data to be entered on the referral: first name, surname, PESEL [Personal Number], date of birth, address for sending the test report (results), date and hour of material collection, clinical diagnosis / indication to test performance, type of material, ordered test/s, patient’s signature, signed informed consent for genetic testing.

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