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Nzoz genomed > Genetic tests > Tests list

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Genetic testing

Infertility

Genetic Testing Offered by NZOZ Genomed

Test DescriptionThe CodePriceTurnaround time
Infertility
Identification of 288 mutations in the CFTR gene, including 9 mutations that are the most frequent in male infertility (p.Phe508del (F508del), c.54-5940_273+10250del21kb (dele2,3(21kb)), c.3718-2477C>T (3849+10kbC>T), c.1210-12T[5] (IVS8 (T)5, IVS8-5T), c.1210-34TG[13]T[5] (IVS8 (TG)13(T)5), p.Arg117His (R117H), p.Arg553* (R553X), p.Gly551Asp (G551D), p.Gly542* (G542X))
   We perform genetic testing from:
  • saliva (the Oragene kit, spitting into a tube is required for sample collection, therefore the kit is not suitable for children under the age of 5)
  • venous blood collected into a morphological tube containing EDTA
NP-1 540.00 zł up to 3 weeks
Infertility
Analysis of microdeletions in the AZF region of the Y chromosome (analysis of 6 loci)
   We perform genetic testing from:
  • saliva (the Oragene kit, spitting into a tube is required for sample collection, therefore the kit is not suitable for children under the age of 5)
  • venous blood collected into a morphological tube containing EDTA
NP-2 375.00 zł up to 3 weeks
Infertility
The panel includes tests performed to diagnose reasons of male infertility and before in vitro fertilization (analysis of selected mutations of the CFTR, deletions in the AZF region and karyotype)1
This test require additional venous blood previously collected into a heparin containing tube
   We perform genetic testing from:
  • venous blood collected into a morphological tube containing EDTA
NP-5 1,200.00 zł up to 4 weeks

1 Tests performed in a certified laboratory cooperating with the Genomed Healthcare Center


Male Infertility, Obstructive Azoospermia, Congenital Bilateral Absence of the Vas Deferens (CBAVD)

The mutations of the CFTR gene cause cystic fibrosis (frequency of occurance: 1/2500 live births) and lead to some forms of male infertility such as congenital bilateral absence of the vas deferens (CBAVD) or obstructive azoospermia.

So far, more than 1600 molecular defects have been detected in this particular gene. Of these, a dozen or so constitute approximately 80% of all mutations (the so-called mutated alleles). The remaining mutations either occur rarely or belong to the group of mutations of the so-called familial character.

Testing the CFTR gene for the presence of the most frequent mutations is presently a standard part of the assisted reproduction procedure (ART, ICSI).

The aim of the test is to determine the causes of male infertility and to calculate the probability of a given patient’s child being born with cystic fibrosis.

The offered test allows diagnosticians to identify the most frequent defects of the CFTR gene that occur in male infertility. It takes into account the mutations that are found in the Caucasian population (e.g. F508del, D1152H, R117H) and those typical of the Polish population in particular (e.g. CFTRdele2,3).

Because the testing method is based on sequencing, it is possible to detect rare or familial mutations and not merely the mutations that are most frequent in Male Infertility. The necessary condition is that the former occur in the examined regions of the CFTR gene. Altogether, there are about 290 mutations.


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