Molecular genetic testing

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.

CGH Array

Paternity Test

Factor II Prothrombin (G20210A) mutation analysis

Factor V Leiden mutation analysis

MTHFR (C677T)

MTHFR (A1298T)

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

Fragile-X Syndrome

FMF (Familial Mediterranean Fever)

thalassemia

Lung Cancer-EGFR

EML-4/ALK

Her2/Neu (c-erbB2)

K-RAS

Lung Cancer Panel (EGFR,K-RAS,EML-4/ALK)

Exome sequencing

Hemophilia

Cystic Fibrosis

DMD

SMA

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

Syndromes-specific FISH

Related Posts

Leave a Reply

Your email address will not be published.