PGD TEKNİĞİ İLE TESPİT EDİLEBİLEN HASTALIKLAR

   

EKİM 2011  itibarı ile PGD ile teşhis edilebilen hastalıklar aşağıda sıralanmıştır



Adrenoleukodystrophy (ALD)
Agammaglobulinemia non-Bruton tip
Alport sendromu
Amyloid neuropathy – Andrade hastalığı
Angioneurotic oedema
Blepharophimosis - ptosis - epicanthus inversus sendromu (BEPS)
Brugada sendromu - Long QT sendromu-3
Bruton agammaglobulinemia tyrosine kinase
Ceroid lipofuscinosis neuronal tip 2
Charcot Marie Tooth tip 1A (CMT1A)
Charcot Marie Tooth tip X (CMTX)
Chronic granulomatous hastalığı (CGD)
Cystic Fibrosis  (CF)
Congenital adrenal hyperplasia (CAH)
Congenital disorder of glycosylation tip Ia (CDG Ia)
Congenital fibrosis of extraocular muscles 1 (CFEOM1)
Crigler-Najjar sendromu
Deafness, autosomal recessive
Diamond-Blackfan anemisi (DBA)
Duchenne-Becker muscular dystrophy (DMD/DMB)
Duncan hastalığı - X-linked lymphoproliferative sendromu (XLPD)
Ectrodactyly ectodermal dysplasia and cleft lip/palate sendromu (EEC)
Epidermolysis bullosa dystrophica/pruriginosa
Exostoses multiple tip I (EXT1)
Exostoses multiple tip II (EXT2)
Facioscapulohumeral muscular dystrophy
Factor VII yetersizliği
Familial Mediterranean Fever (FMF)
Fanconi anemisi A
Fanconi anemisi G
Fragile-X
Gangliosidosis (GM1)
Gaucher hastalığı (GD)
Glanzmann thrombasthenia
Glucose-6-phosphate dehydrogenase yetersizliği
Glutaric acidemia I
Haemophilia A
Haemophilia B
Hand-foot-uterus sendromu
Hemophagocytic lymphohistiocytosis familial, tip 2 (FHL2)
Hypomagnesaemia primary
HYPOPHOSPHATASIA
Holt-Oram sendromu (HOS)
Homocystinuria
Incontinentia pigmenti
Lesch-Nyhan sendromu
Limb-girdle muscular dystrophy tip 2C (LGMD2C)
Long QT sendromu-1
Mannosidosis Alpha
Marfan sendromu
Methacrylic Aciduria, yetersizliği of beta-hydroxyisobutyryl-CoA deacylase
Mevalonic aciduria
Myotonic dystrophy (DM)
Myotonic dystrophy tip 2 (DM2)
Mucopolysaccharidosis tip I - Hurler sendromu
Mucopolysaccharidosis tip IIIA - Sanfilippo sendromu A (MPS3A)
Mucopolysaccharidosis tip IIIB - Sanfilippo sendromu B (MPS3B)
Mucopolysaccharidosis tip VI (MPS VI) - Maroteaux-Lamy sendromu
Neuronal ceroid lipofuscinosis 1 - Batten's hastalığı (CLN1)
Niemann-Pick hastalığı
Noonan sendromu
Pancreatitis, hereditary (PCTT)
Paramyotonia congenita (PMC)
Phenylketonuria
Polycystic kidney hastalığı tip 1 (PKD1)
Polycystic kidney hastalığı tip 2 (PKD2)
Polycystic kidney and hepatic hastalığı-1 (ARPKD)
Schwartz-Jampel/Stuve-Wiedemann sendromu
Sickle cell anemisi
Synpolydactyly (SPD1)
Smith-Lemli-Opitz sendromu
Spastic paraplegia tip 3
Spinal Muscular Atrophy (SMA)
Spinocerebellar ataxia 3 (SCA3)
Spinocerebellar ataxia 7 (SCA7)
Stargardt hastalığı
Tay Sachs (TSD)
Thalassemia-α mental retardation sendromu
Thalassemia-β
Torsion dystonia, early onset (EOTD)
Tyrosinaemia tip 1
Tuberosclerosis 1
Tuberosclerosis 2
Wiskott-Aldrich sendromu (WAS)
PGD for inherited predisposition to cancer
Familial adenomatous polyposis
Li-Fraumeni sendromu
Multiple endocrine neoplasia tip I
Neurofibromatosis tip 1
Retinoblastoma
von Hippel-Lindau sendromu

Op.Dr.Hüseyin ŞENYURT
Tunus Caddesi 50A/7 ANKARA
Tel:(312) 431 71 71
GSM: (542) 216 32 32
Elektronik posta: [email protected] 

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