Genetic examination consists of a genetic consultation with the creation of a pedigree for the client or both partners – information about siblings, parents, aunts and uncles, and grandparents. In the family, we are particularly interested in congenital developmental defects (cleft lip, palate, heart defects…), mental retardation, serious diseases (heart attacks, strokes, malignant tumors), and possibly causes of death. After creating the pedigree, we compile a personal medical history – in the case of long-term treatment, it is advisable to supplement this information with medical documentation. A blood sample is often part of the genetic consultation, along with an introduction to the examinations we will conduct.

TYPES OF EXAMINATIONS:

  1. GENETIC EXAMINATION FOR COUPLES WITH FERTILITY DISORDERS
  2. GENETIC EXAMINATION OF CHILDREN WITH CONGENITAL DEFECTS
  3. GENETIC EXAMINATION FOR PATIENTS AT RISK OF SERIOUS DISEASES

These are genes primarily associated with the hereditary occurrence of breast, ovarian, and colon cancers. This examination is suitable for individuals who have experienced any of these diseases before the age of 50, or if there is a family history of any of these diseases in at least two generations in individuals under 50 years of age.

Leiden and Prothrombin Mutations. This examination is advisable for individuals who have experienced thrombosis or embolism.

It involves molecular genetic confirmation of benign hyperbilirubinemia.

The most common monogenic hereditary disease leads to excessive iron accumulation in hepatocytes and especially the pancreas. It is suitable to complement in individuals with elevated Fe, ALT, AST levels, with prolonged prothrombin time.

In individuals with reduced appetite, bloating, constipation, anemia, osteoporosis, increased tooth decay, joint pain, fatigue, and infertility, spontaneous miscarriages. If a patient has some of these issues and simultaneously has predispositions for celiac disease, it is advisable to start adhering to a gluten-free diet.

Affects about 10% of the Czech Republic's population – it most often manifests as increased bloating, abdominal pain, or loose stools after consuming milk or dairy products that contain lactose (milk sugar).

Other monogenic hereditary diseases primarily include:

  • Neurological diseases – Huntington's disease, spinocerebellar ataxia…
  • Kidney diseases – Polycystic kidney disease, Alport syndrome…
  • Cardiological diseases – Marfan syndrome and other connective tissue disorders, hereditary cardiomyopathies
  • Hearing disorders – Connexin 26 examination (mutations 35delG, W24X)

 

In these cases, we conduct a genetic consultation, educate the patient about the risk and significance of the examination for them, and send isolated DNA for examination to specialized laboratories in the Czech Republic or abroad.

All mentioned examinations are indicated by a clinical geneticist and requested by our facility. They are thus included in the costs of Genetics Plzeň.

From you, the patient needs a referral for genetic examination, which can then be ordered at the phone numbers: 377 241 529 or 603 174 793. Subsequently, we will report the genetic consultation to your facility for 1522 points.

For self-paying patients, the genetic consultation with us is 1,500 CZK , and other laboratory tests are charged at the price you can find on our website www.genetika-plzen.cz