Болезни, диагностируемые с помощью ПГД

В настоящее время лаборатория проводит генетический анализ заболеваний указанных ниже. Однако, лаборатория может проводить исследования, не внесенные в список заболеваний, в соответствии с нуждами пациентов. Методика позволяет проводить исследования при всех известных генетических заболеваниях в той же мере, как делается генетический анализ околоплодных вод или ворсинок хориона.

Список заболеваний, при которых проводится ПГД:

Adrenoleukodistrophy (ALD)Aicardi GoutrieresAlport syndromeAndrogen insensitivity syndrome (AIS)
Beal's syndrome
Beta thalassemia
Brachydactyly type A1, BDA1(IHH)
Blackfan Diamond Anaemia
BPES-Blepharophimosis, ptosis, and epicanthus inversus
Brachydactyly A1
Bloom syndrome
Breast cancer
Canavan disease
Charcot-Marie-Tooth (CMT1A)
Creutzfeldt-Jakob Disease (CJD)
Congenital myastenic syndrome (CMS)
Chronic Granulomatous disease (CGD)
Cystic fibrosis (CF)
DFNB1 deafness ("connexin")
Duchenne (+Becker) muscular dystrophy (DMD/BMD)
Early-onset primary dystonia
Epidermolysis Bullosa, EBS
Familial adenomatous polyposis (FAP)
Familial Dysautonomia (FD)
Fanconi anemia complementation group G
Fragile X syndrome
Gaucher disease
Hemophagocytic Lymphohistiocytosis, HLH
Hereditary hemorrhagic telangiectasia (HHT)
Hereditary nonpolyposis colorectal cancer (HNPCC)
Hyper-IgM Syndrome (HIGM)
Hirschprung Disease
HLA match
Huntington disease
Hyperinsulinemia
Kallmann Syndorme
LEIGH disease
Leopard syndrome
Long QT syndrome
Lowe syndrome
Machado-Joseph disease (MJD/SCA3)
Maple Syrup Urine Disease (MSUD)
Marfan syndrome
Megancephalic Leukoencephalopathy (MLC)
MucopolySaccaridosis Type 3A (San Fillipo-MPS3A)
Mucolipidosis IV (ML4)
Myotonic dystrophy (DM)
Nance-Horan syndrome (NHS)
Nemaline Myopathy (NM)
Neurofibromatosis type 1 (NF1)
Noonan Syndrome
Norrie
Oculocutaneous albinism
Osteogenesis Imperfecta
Pelizaeus Merzbacher Disease (PMD)
Autosomal Recessive Polycystic Kidney Disease (ARPKD)
Polycystic kidney disease (PKD)
Retinoblastoma (Rb)
RH Isoimmunization
Saethre-Chotzen syndrome
Spondyloepiphyseal dysplasia congenita (SED)
Severe congenital neutropenia ("Kostmann")
Spinal muscular atrophy (SMA)
Tay-Sachs disease
Torsion Dystonia (TOR1A)
Treacher Collins syndrome
Tuberous sclerosis
Tyrosinemia
X-linked Albinism
X-linked agammaglobulinemia (XLA/ Bruton)
X-linked hyper Hydrocephaly
X-linked hyper IgM syndrome
X-linked Hypophosphatemic Rickets
X-linked myotubular myopathy