DNA diagnosis of monogenic diseases
Monogenic diseases result from changes or mutations in specific individual genes. It is known that in 5-6 out of 100 newborns conceived both naturally and using ART methods, hereditary diseases and various malformations that can significantly affect the health and quality of life of a child can be detected.
A wide range of DNA testing for the most common monogenic disease among the population of Ukraine is performed at the IGR Medical Center. DNA test allows you to accurately identify the cause of the disease and make the correct diagnosis. Also, DNA analysis makes it possible to establish kinship between family members (for example, paternity) even in cases where, for example, the child is still in the womb.
DNA laboratory performs research for 4-5 weeks. Special preparation before blood donation is not required. For the collection of other biological material, consultation is carried out individually. A list of DNA diagnostic services is provided below.
DNA diagnostics (molecular genetic studies):
DNA diagnosis of phenylketonuria
DNA diagnosis of cystic fibrosis
Hemophilia A DNA Diagnosis
DNA Diagnosis of Duchenne Muscular Dystrophy (Deletion Analysis) for Boys
DNA Diagnosis of Spinal Muscular Atrophy (SMN1 Deletion Analysis) SMA
DNA diagnosis of heterozygous carriage of spinal muscular atrophy
DNA diagnosis of hereditary hemochromatosis;
DNA diagnostics of hereditary motor-sensory neuropathy of Charcot-Marie-Tus type 1A-CMT;
Huntington Chorea DNA Diagnostics;
DNA diagnostics of Prader-Willi and Angelman syndromes;
DNA diagnostics of adrenogenital syndrome (AGS);
DNA diagnosis of Martin-Bell syndrome or fragile X chromosome;
DNA diagnostics of hereditary forms of premature ovarian exhaustion (FMRI, FSHR, INHa);
Genetic testing for couples with habitual miscarriage and infertility;
Genetic testing for women with low ovarian reserve;
Analysis of microdeletions of the Y chromosome, spec. cystic fibrosis gene mutations for men;
Genetic testing of a hereditary predisposition to thrombophilia;
The definition of biological kinship (father + child / father + mother + child), postnatal and prenatal.