Medical Genetics - Consultations and Screenings

Heterozygote Screening

Find out the risk of your future child inheriting a genetic disease

Every person carries at least one genetic mutation, which is why medical societies recommend this genetic test for partners planning to have a child.*
The analysis involves sequencing over 300 genes whose changes cause more than 300 genetic diseases (Cystic fibrosis, Fragile X syndrome, Spinal muscular atrophy, Muscular dystrophies, Hemophilia, Thrombophilia, Mucopolysaccharidosis, etc.)
If both partners are found to be heterozygous for the same genetic mutation (high-risk couple), early prenatal or preimplantation diagnosis is possible, allowing you to choose what is best for you and your family!
The price for both partners is only 2200 RON, including genetic counseling.

Appointments by phone: 0365911

NIPS (NIPT)

Non-invasive prenatal screening

Relevant medical societies (Obstetricians and Gynecologists, geneticists, Maternal-Fetal Medicine Society) recommend this genetic test for all pregnant women, regardless of age or risk.*
The analysis involves collecting maternal blood containing free fetal DNA and calculating the risk of the fetus having numerical chromosomal abnormalities (chromosomes 13, 18, 21, X, and Y) and structural abnormalities (del 1p36, del 22q11.2, del 15q11.2, del 5p15.2, del 4p16.3).
The result is interpreted by experts in Medical Genetics, who provide pre-test and post-test counseling and genetic advice.
The test can be performed starting from the 10th week of pregnancy, and results are available in about 2 weeks.
The price is only 1200 RON, including genetic counseling.

Appointments by phone: 0365911

Medical Genetics Consultation

Diagnosis and follow-up care for patients with genetic diseases

The geneticist plays an essential role in diagnosing and caring for patients with genetic diseases and their families. A genetic diagnosis can be established prenatally or postnatally, and sometimes even before the onset of clinical symptoms.

Indications for consultation and genetic counseling:

Newborns or children with intellectual disability, psychomotor delay, craniofacial dysmorphism, growth retardation, ambiguous genitalia, malformations, congenital anomalies, etc.
Couples wishing to have a child, to detect carrier status for certain pathogenic genetic changes (e.g., cystic fibrosis, spinal muscular atrophy, etc.)
Couples wishing to perform prenatal screening/diagnostic tests
Couples with recurrent spontaneous miscarriages
Couples with infertility
Patients and/or their relatives with various types of familial cancers, cardiac arrhythmias, cardiomyopathies, or coagulation disorders
The diagnosis can be established after clinical consultation, supported by clinical signs and symptoms or after a genetic test. If a genetic test is needed, the geneticist provides pre- and post-test counseling. During a genetic consultation, patients are encouraged to ask questions and express concerns. The geneticist will provide answers and guidance but will never make decisions for the patient or family.
After a diagnosis is established, patients/families/couples will have a clear understanding of their options.

Appointments by phone: 0265225002 or 0728800699

Price: 200 lei