In many single gene diseases, the patient or carrier individual can be detected by molecular genetic tests. In cases where mutation is detected, prenatal diagnosis can be planned. Some tests are carried out in coordination with our contracted centers.
Factor II Prothrombin (G20210A) mutation analysis
Factor V Leiden mutation analysis
Thrombophilia Panel (MTHFR, Factor II, Factor V)
Y chromosome microdeletion
JAK 2 (V617F) mutation
BCR-ABL t(9;22) p190
BCR-ABL t(9;22) p210
Cardiovascular Risk Panel
FMF (Familial Mediterranean Fever)
Lung Cancer Panel (EGFR,K-RAS,EML-4/ALK)
In some oncological cases and microdeletion syndromes, evaluation with FISH is required. While long-term culture continues in prenatal diagnosis, early results can be obtained for some chromosomal disorders with FISH. Some tests are carried out in coordination with our contracted centers.
FISH in prenatal diagnosis
FISH in oncological cases