In some of the genetic diseases, it is possible to diagnose with gene analyses. For certain types of diseases, however, the genetic tests are not available today. The reasons for this are as follows:

• Failure to identify the genetic region causing the disease
• Failure to perform the genetic test due to technical reasons although the genetic region is identified
• Examination of the genetic region in the genetic tests with only certain points
• Examination of a different genetic region due to misdiagnosis
• Failure to have the test by the family due to high test prices

Due to the abovementioned reasons, it is frequently not possible to support the clinical diagnosis with the genetic test and to confirm the diagnosis. As a result of this, the families with sick children experience problems when they want to have another child.

In such cases, it is possible to make genetic diagnosis with biochemical tests and information about the risks can be provided to the family in new pregnancies. Furthermore, it is possible to determine if the baby has any disease from the samples taken in case of any pregnancy, such as amniotic fluid, CVS sample and cord blood.

EDTA = EDTA Blood

HEP = Heparanised Blood

P = Plasma

U = Urine

L = Liver

CC = Cultured Skin Fibroblasts

AFC = Cultured Amniotic Fluid Cells

AF = Amniotic Fluid

CCV = Cultured Chorionic Villi

CVS = Chorionic Villus Sample

CSF = Cerebrospinal Fluid

**Age, gender, clinical detail and related treatments of the patient must be submitted before all tests.