With DNA sequence analysis (sequencing technology) it is now possible to determine whether many single gene diseases will be passed on to babies born. Only by placing the healthy embryos, it will be ensured that babies born will not bear the disease. Below you will find examples of single gene diseases diagnosed by sequence analysis and PCR. In our country, problems such as thalassemia, sickle cell anemia, FMF, hemophilia are frequently encountered.

Beta talasemi ,Orak Hücre Anemisi ,Delta-Beta Talasemi .Bartter Sendromu ,Spinal Musküler Atrofi (SMA) ,Miyotonik Distrofi, Kistik Fibrozis, San Filippo Sendromu
Fragile X Sendromu ,Charcot-Marie Tooth, Ailevi Akdeniz Ateşi (FMF)
Li Fraumeni Sendromu ,Mukopolisakkaridozis ,Nörofibromatozis
Konjenital Sağırlık (connexin 26)
G6PD (glikoz-6 fosfat dehidrogenaz enzim eksikliği), Huntington Hastalığı ,PKU (fenilketanuri)
Hiper-IgM Sendromu ,Pompe Hastalığı ,CAH (Konjenital Adrenal Hiperplazi)
FHHNC (ailesel hipomagnezemi,
hiper kalsinüri ve nefrokalsinozis) FSHD (Fasiyo Skapulo Humeral Müsküler Distrofi) INAD (Infantil Nöroaksonal Distrofi)
Krabbe Hastalığı ,LMD ,(Limb Girdle Musküler Distrofi) Neiman Pick
Osteogenesiz İmperfekta ,Retinoblastoma, Spastik Parapleji
Tay Sach’s Hastalığı ,Tuberosklerozis ,Galactosemia
Faktör VII eksikliği ,BRCA1 ,Hunter Sendromu
Metakromotik Lökodistrofi ,Herediter Multiple Exostozis ,Propionik Asidemi…..