Genetic testing for women
There are many causes of infertility or problems with abnormal pregnancies at an early stage of gestation. Genetic abnormalities may be one of them. Our clinic provides a range of genetic tests to diagnose the cause of failures.
There are many causes of infertility or problems with abnormal pregnancies at an early stage of gestation. Genetic abnormalities may be one of them. Our clinic provides a range of genetic tests to diagnose the cause of failures.
What is genetic testing?
What is genetic testing?
The information embedded in DNA, which we inherit from our parents, is decisive for our lives, how we develop diseases, how susceptible we are to disease or, ultimately, our chances of having healthy offspring. Genetic testing entails analysing a person’s genetic material and detecting possible mutations.
The tests that are most commonly done to determine the cause of infertility or miscarriages are:
• CFTR gene mutation testing is a blood or saliva test. It allows for detecting mutations in the CFTR gene, responsible for the onset of cystic fibrosis and potentially causing infertility in men and women. The presence of an abnormal mutated gene may cause menstrual disorders and production of too thick cervical mucus.
• The KIR genotype test is a blood test designed for women. It consists of assessing the genotype (composition) of KIR receptors on uterine NK cells and may be helpful in the diagnosis of immune-mediated spontaneous abortions and some late complications during pregnancy.
• Karyotype testing is a blood test done in both men and women. Karyotype testing helps to determine the number and structure of chromosomes in the tested person.
• HLA-C typing is a blood test done in both men and women. This test can be helpful in diagnosing immuno-mediated infertility and frequent treatment failures.
• FMR1 gene premutation testing is a blood test done in women.This test is designed to detect a hereditary condition known as “fragile X chromosome syndrome,” which presents with a reduced ovarian reserve that is inadequate for age. The male offspring of women affected by this syndrome may present with intellectual disability, delayed psychomotor development, and behavioural disorders.
About testing
Practised approaches
genetic testing
Blood sample collection
genetic testing
Saliva sample collection
A sample containing DNA is required to perform a genetic test. Luckily, it is quick and painless, and only a small sample of saliva or blood is required for testing.
Good to know
Preparation
for testing
Genetic testing is done in cases of:
-
- infertility;
- recurrent miscarriage;
- failure of treatment with assisted reproductive technology, including treatment failure in an in vitro fertilisation program;
- poor semen parameters;
- birth of an older child with a genetic defect;
- primary amenorrhoea.
Blood tests do not require any special preparation. It is important that the patient stays adequately hydrated. The tests are done in the morning.
The patient must fast for saliva sample tests (AZF, CFTR). On the day of the examination, they must not smoke, chew gum nor brush their teeth. If there is a problem with bleeding gums, the test should be postponed until the condition has resolved.
Course of testing
Test price list
| Peripheral blood lymphocyte karyotype |
PLN 490 |
| CFTR gene testing – 36 mutations |
PLN 850 |
| CFTR gene testing – 7 mutations |
PLN 550 |
| Fragile X chromosome syndrome – analysis for presence of premutation and dynamic mutation consisting of a repeat expansion (CGG) in the 5’UTR of the FMR1 gene |
PLN 850 |
| Molecular KIR typing |
PLN 550 |
| Molecular HLA-C typing |
PLN 550 |
| Molecular KIR = HLA-C typing |
PLN 1 050 |

