Inherited Genetic Disorders

INHERITED DISORDERS

Molecular genetic analysis is an important diagnostic tool for the study of inherited genetic disorders, as well as for the detection of carriers of genetic changes and predisposition to specific genetic diseases.

With the continuous development of molecular genetics, the capability to study new genetic disorders is expanding, allowing for early diagnosis of affected individuals and identification of carriers. This enables physicians to manage cases in the best possible way.

Common Molecular Tests

Molecular testing for thrombophilia

Molecular analysis of α-globin gene mutations (α-Thalassemia)

Molecular analysis of β-globin gene mutations (β-Thalassemia / Sickle Cell Anemia)

Molecular analysis of CFTR gene mutations (Cystic Fibrosis)

Molecular paternity / kinship testing

Molecular typing of histocompatibility antigens (HLA)

Molecular testing for cardiovascular diseases

Molecular testing for achondroplasia (FGFR3)

Molecular testing for hemochromatosis (12 HFE gene mutations)

GENETIC COUNSELING

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