- Анеуплоиди (тризомии) на всички 23 хромозоми, включително анеуплоиди на половите хромозоми:
- Синдром на Търнър (Монозомия Х
- Синдром на Клайнфелтър (XXY)
- Определяне на пола на бебето / по желание на родителите/
- Микроделеции:
- 22q11 делеция – Синдром на Ди Джордж
- 15q11 делеция – Синдром на Ангелман
- 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
съхранение на стволови клетки
