GENETIC APPROACH
SINGLE GENE DISORDERS SCREENED IN OUR CENTER

Single Gene Disorders Screened in Our Center:

NOTE: PGT can be applied for all diseases diagnosed in our center.

  • ACHROMATOPSIA
  • ADRENOLEUKODYSTROPHY
  • APERT SYNDROME
  • ATAXIA TELANGIECTASIA
  • BARDET BIEDL SENDORUMU
  • BEST DISEASE BEST1 (VMD2) SEQUENCING
  • BETA GALACTOSIDASE DEFICIENCY
  • BETA THALASSEMIA
  • BIOTIDINAZ DEFICIENCY
  • BRCA1/2
  • BRUTTON DISEASE
  • CANAVAN DISEASE
  • CHARCOT MARIE TOOTH
  • CHRONIC GRANULOMATOSIS
  • CITRULINEMIA
  • COMBINED IMMUNODEFICIENCY
  • CONGENITAL DEAFNESS
  • CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1F (MPDU1/MGTA2) GENE
  • CONGENITAL HYPOVENTILATION SYNDROME (PHOX2B)
  • CUTIS LAXA
  • CYSTIC FIBROSIS
  • CYSTINOSIS
  • DONOHUE SYNDROME
  • DRAVET SYNDROME
  • DUCHENE MUSCULAR DYSTROPHY (DMD)
  • EBV-ASSOCIATED AUTOSOMAL LYMPHOPROLIFERATIVE SYNDROME (ITK)
  • EPIDERMOLYSIS BULLOSA DYSTROPHIC TYPE
  • EPIDERMOLYSIS BULLOSA JUNCTIONAL TYPE
  • FABRY DISEASE
  • FAMILIAL ISOLATED GH DEFICIENCY
  • FAMILIAL MEDITERENIAN FEVER (FMF)
  • FANCONI BICKEL SYNDROME
  • FOCAL DERMAL HYPOPLASIA
  • FRAGILE X SYNDROM
  • FRUCTOSE INTOLERANS
  • GALACTOSEMIA
  • GANGLIOSIDOSIS
  • GAUCHER DISEASE
  • GLYCOGENSTORAGE DISEASE
  • GLUCOSE 6 PHOSPHATE DEHYDROGENASE / BILIARY ATRESIA
  • GLUTARIC ACIDEMIA TYPE 2
  • HAEMOPHILIA
  • HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS
  • HEREDITARY SPHEROCYTOSIS
  • HUNTINGTON (ETHICAL APPROVAL IS NECESSARY)
  • HYPER IgE (DOCK-8)
  • HYPER IgMSYNDROME
  • HYPERTROPHIC CARDIOMYOPATHY
  • HYPOPHOSPHATEMIC RICKETS
  • ICHTHYOSIS BULLOSA
  • ICHTHYOSIS VULGARIS
  • INFANTIL NEUROAXONAL DYSTROPHY
  • JANUSKINASE (JAK2)
  • JOUBERT SYNDROME
  • CONGENITAL NEUTROPENIA
  • KOSTMANN SYNDROME
  • KRABBE
  • MAPLE SYRUP URINE DISEASE
  • MECKEL-GRUBER SYNDROME
  • MENKES SYNDROME
  • MEROSIN DEFICIENT CONGENITAL MUSCULAR DISTROPHY
  • METHYL MALONIK ASIDEMILI
  • MHC DEFICIENCY
  • MUCOPOLYSACCHARIDOSIS TYPE 1
  • MULIBREY NANISM
  • MULTIPLE SYNOSTOSIS SYNDROME
  • MYOTONIA CONGENITA
  • MYOTONIC DYSTROPHY
  • NEUROFIBROMATOSIS
  • NIEMANN-PICK TYPE A/B
  • NIJMEGEN SYNDROME
  • NON-KETOTIK HIPERGLISINEMI
  • NEUROFIBROMATOSIS TYPE 1
  • OMENN SYNDROME
  • OSTEOGENESIS IMPERFECTA
  • PELIZAEUS MERZBACHER
  • PHENYLKETONURIA
  • POLICYTICKIDNEY DISEASE (AUTOSOMAL DOMINANT PKD1)
  • POLICYTICKIDNEY DISEASE (RECESSIVE FORMPKHD1)
  • POMPE DISEASE
  • RETINITIS PIGMENTOSA (AUTOSOMAL DOMINANT AND RECESSIVE FORM)
  • RETT SYNDROME
  • RH DEFICIENCY
  • ROBERT SYNDROME
  • SCID SYNDROME
  • SCWACHMAN DIAMOND SYNDROME
  • SECKEL SYNDROME
  • SPINAL MUSCULAR ATROPHY (SMA)
  • TAY -SACH'S DISEASE
  • TUBEROUS SKLEROSIS
  • TYROSINEMIATYPE 1
  • VANISHING WHITE MATTER
  • WILSON DISEASE
  • WISKOTT ALDRICH SYNDROME
  • ZELLWEGER SYNDROME
     
  • AND ALL OTHER KNOWN SINGLE GENE DISORDERS