Beta-Thalassemia 

Beta-Thalassemia is a genetic disease caused by inherited mutations in the beta-globin gene. Depending on the type of mutation, individuals may exhibit mild to severe impairment in the synthesis of normal hemoglobin, the component of red blood cells that carries oxygen to tissues. At EMBIODIAGNOSTICS®, molecular detection of 22 mutations in the beta-globin gene is performed, covering 97% of the mutations commonly observed in Greece. Contact us for more information.

Cystic Fibrosis 

Cystic Fibrosis is a genetic disease that causes chronic respiratory infections and gradually limits respiratory capacity. Responsible for this condition are mutations in the CFTR gene, which encodes a protein that regulates chloride passage through the membranes of lung epithelial cells and other organs. The frequency of carriers of the disease in Greece (about 4%-5% of the population) necessitates DNA testing of the mother. If she is found to be a carrier, the father is then tested. When both parents are carriers, there is a 25% chance of having an affected child, hence the necessity for genetic testing of the embryo. The DNA test conducted by EMBIODIAGNOSTICS® includes the detection of more than 100 recorded mutations of the CFTR gene, which appear in approximately 85% of carriers in the Greek population. Contact us for more information.

Thrombophilia 

Thrombophilia is an abnormality in blood clotting, which increases the risk of thrombosis, i.e., the formation of blood clots in the vessels. Thrombophilia has been associated with recurrent miscarriages and pregnancy complications such as preeclampsia, restricted fetal growth, and fetal death. The laboratory test performed at EMBIODIAGNOSTICS® includes the examination of all known mutations for hereditary thrombophilia and polymorphisms that increase the risk of acquired disease. The 12 genetic/predisposing factors tested are as follows:

• FV Leiden Mutation (G1691A, R506Q)
• FV R Mutation (H1299R)
• Prothrombin G20210A Mutation
• MTHFR C677T Mutation
• MTHFR A1298C Mutation
• Factor XIII V34L Mutation
• Apolipoprotein B R3500Q Polymorphism
• GPIa C807T Mutation (HPA5)
• Apolipoprotein E
• Fibrinogen Beta-Fibrinogen FGB -455G>A Mutation
• HPA1b Isomorph (Human Platelet Antigen 1, HPA1a/b, GpIIIa, integrin beta 3 L33P)
• Angiotensin-Converting Enzyme (ACE) 287 bp insertion/deletion (I/D) Contact us for more information.

Histamine 

Genetic Predisposition to Histamine Intolerance Histamine intolerance results from the body's inability to metabolize excess histamine. As a result, histamine becomes toxic and can cause allergic reactions (hives, itching, rashes), arrhythmias, tachycardia, dizziness, high blood pressure, dysmenorrhea in women, etc. At EMBIODIAGNOSTICS®, we conduct molecular testing of 5 polymorphic genetic loci associated with histamine intolerance. The test includes the DAO gene (diamine oxidase), responsible for histamine breakdown in the intestine. We also provide counseling in consultation with your doctor or dietitian regarding dietary elements such as tea, alcohol, fermented foods, and medications such as ibuprofen, which suppress the DAO enzyme. Contact us for more information.

Coeliac Disease: 

Genetic Predisposition to Gluten Intolerance Coeliac Disease is a chronic autoimmune disorder caused by the ingestion of gluten in individuals with a genetic predisposition and affects the small intestine. It is also known as "gluten intolerance." Symptoms range from simple abdominal bloating to weight loss, anemia, and neuropathy. It is estimated that approximately 1% of the world's population suffers from coeliac disease. The Celiac Disease Foundation in the United States recommends first-degree genetic testing for relatives, especially children, in families with coeliac disease. Testing is also recommended for individuals exhibiting similar symptoms. At EMBIODIAGNOSTICS®, we conduct molecular testing of 42 polymorphic genetic loci associated with the onset of coeliac disease.

Contact us for more information.