За THE VISION

  • Анеуплоиди (тризомии) на всички 23 хромозоми, включително анеуплоиди на половите хромозоми:
    • Синдром на Даун
    • Синдром на Едуардс
    • Синдром на Патау
    • Синдром на Търнър (Монозомия Х
    • Тризомия Х (ХХХ)
    • Синдром на Клайнфелтър (XXY)
    • Синдром на Якобс (XYY)
    • Определяне на пола на бебето / по желание на родителите/
  • Микроделеции:
    • 22q11 делеция – Синдром на Ди Джордж
    • 15q11 делеция – Синдром на Ангелман
    • Прадер – Вили
    • 1p36 делеция;
    • 4p делеция – Синдром на Волф-Хишхорн
    • 5p делеция – Синдром на Кр Дю Шат
    • 11p23 делеция – Синдром на Якобсен
    • 8q24 делеция – Синдром на Лангер-Гиедон
    • 17p11.2 делеция – Синдром на Смит-Магенис
  •   Генни мутации и състояния:
  • Acyl-CoA dehydrogenase, medium chain, deficiency of
  • Hyperoxaluria, primary, type 1
  • Metachromatic leukodystrophy
  • Wilson disease
  • Biotinidase deficiency
  • Homocystinuria
  • Cystic fibrosis
  • Smith-Lemli-Opitz syndrome
  • Emery-Dreifuss muscular dystrophy 1, X-linked
  • Fragile X syndrome
  • Glycogen storage disease II
  • Krabbe disease
  • Galactosemia
  • Gaucher disease type I-II-III-IIIC-Perinatal Lethal
  • Charcot-Marie-Tooth neuropathy, X-linked
  • Deafness, autosomal recessive 1A
  • Deafness, autosomal recessive 1B
  • Fabry disease
  • LCHAD deficiency
  • Alpha-Thalassemia
  • Alpha-Thalassemia
  • Beta-Thalassemia, Sickle cell anemia
  • Tay-Sachs disease
  • Familial Mediterranean fever
  • Methylmalonic aciduria and homocystinuria, cblC type
  • Phenylketonuria
  • Congenital disorder of glycosylation, type Ia
  • Alpha-1-Antitrypsin Deficiency
  • Achondrogenesis Ib
  • Spinal muscular atrophy (SMA1)
  • Alagille syndrome
  • CHARGE syndrome
  • Cornelia de Lange syndrome 5
  • Cornelia de Lange syndrome 1
  • Rett syndrome
  • Sotos syndrome 1
  • Bohring-Opitz syndrome
  • Schinzel-Giedion syndrome
  • Holoprosencephaly
  • Antley-Bixler syndrome without genital
  • anomalies or disordered steroidogenesis
  • Apert syndrome
  • Crouzon syndrome
  • Jackson-Weiss syndrome
  • Pfeiffer syndrome type 1
  • Pfeiffer syndrome type 2
  • Pfeiffer syndrome type 3
    Cardiofaciocutaneous syndrome 1
  • Noonan syndrome-like disorder with or without
  • juvenile myelomonocytic leukemia (NSLL)
    Noonan syndrome/cancers
  • Cardiofaciocutaneous syndrome 3
  • Cardiofaciocutaneous syndrome 4
  • Noonan syndrome 6/cancers
  • Noonan syndrome 1/ LEOPARD syndrome/cancers
    Juvenile myelomonocytic leukemia (JMML)
  • Noonan syndrome 5/LEOPARD syndrome 2
  • Noonan syndrome 8
  • Noonan syndrome-like disorder with loose
  • anagen hair
  • Noonan syndrome 4
    Achondrogenesis, type II or
  • hypochondrogenesis
  • Achondroplasia
  • CATSHL syndrome
  • Crouzon syndrome with acanthosis nigricans
  • Hypochondroplasia
  • Muenke syndrome
  • Thanatophoric dysplasia, type I
  • Thanatophoric dysplasia, type II
  • Ehlers-Danlos syndrome, classic
  • Ehlers-Danlos syndrome, type VIIA
  • Osteogenesis imperfecta, type I
  • Osteogenesis imperfecta, type II
  • Osteogenesis imperfecta, type III
  • Osteogenesis imperfecta, type IV
    Ehlers-Danlos syndrome, cardiac valvular
  • form
  • Ehlers-Danlos syndrome, type VIIB
  • Osteogenesis imperfecta, type II
  • Osteogenesis imperfecta, type III
  • Osteogenesis imperfecta, type IV

RhD (несъвместимост) ПО ЖЕЛАНИЕ НА РОДИТЕЛИТЕ

Всяка бременна жена с кръвна група с отрицателен резус-фактор

Цена : 1960 €