Ensure full examination package to your infant patients.

We offer examinations that are covered by Genetika Plzeň.

• Examination of the karyotype or exclusion of the most frequent microdeletion and microduplication syndromes using the array CGH method – starting from newborns, toddlers, and infants with signs of facial dysmorphism, congenital developmental defects, growth and behavioural disorders, hypotonia, or autism spectrum disorders (ASD). For karyotyping, we routinely perform blood draw, examination using array CGH may also be performed non-invasively from the buccal swab.
• Predisposition alleles for coeliac disease – infants with reduced appetite, failing to thrive, bloating, constipation, anaemia, osteoporosis, increased tooth decay, joint pain, fatigue, growth disorders, atopic dermatitis, and recurrent respiratory infections. Suitable for parents who reject enterobiopsy (the molecular-genetic test can be performed non-invasively from the buccal swab). The genetic examination neither confirms nor excludes the celiac disease diagnosis, it only determines genetic predispositions.
• Lactose intolerance – nesnášenlivost laktózy trápí zhruba 10 % obyvatel České republiky – nejčastěji se projevuje zvýšeným nadýmáním, bolestmi břicha nebo řídkými stolicemi po konzumaci mléka či mléčných výrobků, které obsahují laktózu (mléčný cukr).
• Mutations of congenital thrombotic conditions – Leiden and prothrombin mutations. This examination is recommended for children (particularly adolescent girls), whose relatives have either suffered from thrombosis / embolism or carry a thrombophilic mutation. The test ca be performed non-invasively from the buccal swab.
• Gilbert syndrome – molecular-genetic confirmation of benign hyperbilirubinemia. The test ca be performed non-invasively from the buccal swab.
• We can refer patients for consultation in case of other monogenic hereditary disorders that have already occurred in the family – primarily neurological diseases (Hereditary Motor-Sensory Neuropathy, Huntington's disease, spinocerebellar ataxia... ), kidney disorders (polycystic kidney disease, Alport syndrome...), cardiological diseases (Marfan syndrome and other connective tissue disorders, hereditary cardiomyopathies) or hearing disorders. In these cases, we perform a genetic consultation, informing the patient about the risk and significance of the test, and send the isolated DNA for testing to specialised laboratories in the Czech Republic or abroad. The examination usually requires a blood draw.

All of the above examinations are indicated by a clinical geneticist and are covered by Genetika Plzeň.

Your patient will require
a requisition form for the genetic examination, which is available by ordering on phone numbers 377 241 529 or 603 174 793. For examinations of children below 18 years of age, the informed consent of a legal representative is required (signed on site). Please instruct parents to bring a report from the maternity hospital, their child's vaccination certificate, and copies of the results of specialist examinations, if applicable.