Molecular Genetics

Molecular Genetics or Molecular Genetic Testing methods looks for the changes in a ''Single Gene'' or ''group of Genes''

Single gene testing is done when your doctor believes you or your child have symptoms of a specific condition or syndrome, and with Single Gene Testing related genes analyzed to diagnose if there is a change/mutation in that gene. For example, the Duchene muscular dystrophy is caused by changes (mutations) of the DMD gene on the X chromosome, with single gene analysis DMD gene is analyzed if there is a change or not. 

Some Single Gene Disorders and Analysis

5-Alpha Reductase Deficiency(SRD5A2)

AIDS (HIV) - ABACAVIR HİPERSENSİTİVİTESİ (HLA-B57*01)

AKÇAAĞAÇ ŞURUBU İDRAR HASTALIĞI TİP 1A (BCKDHA)

AKÇAAĞAÇ ŞURUBU İDRAR HASTALIĞI TİP 1B (BCKDHB)

AKÇAAĞAÇ ŞURUBU İDRAR HASTALIĞI TİP 2 (DBT)

AKONDROPLAZI (FGFR3)

ALFA TALASEMİ (HBA1 VE HBA2)

ALZHEIMER HASTALIĞI YATKINLIK (APP, PSEN1, PSEN2)

ANKİLOZAN SPONDİLİT (HLA-B27)

BECKER /DUCHENNE MÜSKÜLER DİSTROFİ (DMD, DISTROFIN)

BEHÇET HASTALIĞI (HLA-B51)

BETA TALASEMİ (HBB)

BETA TALASEMİ MODİFİER GENLER (HBG2, BCL11A, HBS1L-MYB)

FABRY HASTALIĞI (GLA)

FENILKETONURI (PAH)

FMF (AİLESEL AKDENİZ ATEŞİ)(MEFV)

FRAJIL X ANALİZİ (FMR1)

FUKOSİDOZİS (FUCA)

GALAKTOZEMİ (GALT)

GAUCHER HASTALIĞI (GBA)

HEMOFİLİ A (F8)

HEMOFİLİ B (F9) 

HEMOKROMATOZİS PANELİ (HFE, SLC40A1, TFR2, HFE2, HAMP)

HIPOKONDROPLAZİ (FGFR3)

IKTİYOZİS / STREOID SÜLFATAZ EKSİKLİĞİ (STS)

KİSTİK FİBROZİS (CFTR)

KONJENİTAL ADRENAL HİPERPLAZİ (CYP11B1)

KONJENİTAL ADRENAL HİPERPLAZİ (CYP17A1)

KONJENİTAL ADRENAL HİPERPLAZİ (CYP21A2)

LANGER MESOMELİK DİSPLAZİ (SHOX)

NIEMAN PİCK HASTALIĞI TİP A, TİP B (SMPD1)

PİRUVAT KİNAZ EKSİKLİĞİ (PKLR)

SEREBRAL ARTERİOPATİ (CADASIL Sendromu) (NOTCH3)

SHWACHMAN-DİAMOND SENDROMU (SBDS) 

SPINAL MUSKULER ATROFİ (SMN1 ve SMN2)

TAY SACHS HASTALIĞI (HEXA)

TROMBOFİLİ GENLERİ (Faktör2, Faktör5, MTHFR, PAI, Faktör13)

WISKOTT ALDRICH SENDROMU (WAS)

WISKOTT ALDRICH SENDROMU 2 (WIPF1)

WİLSON HASTALIĞI (ATP7B)

For more information and other tests which are not listed above please contact with our center.