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PGD for Inherited Disease

Find out more about PGD at Genea or call us on 1300 361 795

Preimplantation genetic diagnosis (PGD) was developed specifically for the identification of embryos with genetic abnormalities.

Genea has developed tests for more than 130 inherited diseases. New tests can be developed as needed. As of 2012 we have now developed more than 170 tests for inherited diseases.

Conditions Genea may Assist in Detecting 

  • ABO blood type incompatability
  • Alagille syndrome
  • Alpers disease
  • alpha 1 anti-trypsin
  • alpha-thalassemia
  • Alport syndrome
  • aniridia
  • anti-Kell antibodies
  • Becker muscular dystrophy
  • beta-thalassemia
  • blepharophimosis ptosis epicanthus inversus
  • breast cancer, gene 1
  • breast cancer, gene 2
  • carbamoyl phosphate synthetase deficiency
  • central core disease
  • cerebral arteriopathy (Cadasil)
  • Charcot-Marie-Tooth syndrome 1A
  • Charcot-Marie-Tooth syndrome 1B
  • Chronic granulomatosis disease (CGD)
  • cleidocranial dysplasia
  • congenital adrenal hyperplasia
  • congenital disorder of glycosylation
  • congenital nephrotic syndrome
  • connexin 26
  • Crigler-Najjar syndrome I
  • Crouzon syndrome
  • cystic fibrosis
  • Czech dysplasia
  • Dejerine-Sottas syndrome
  • Duchenne muscular dystrophy
  • early onset Alzheimer disease
  • early onset torsion dystonia
  • E-cadherin
  • ectodermal dysplasia
  • Ellis-van Creveld syndrome
  • Emery Dreifuss muscular dystrophy
  • epidermolysis bullosa, dominant dystrophic
  • epidermolysis bullosa, Herlitz junctional, gene 1
  • epidermolysis bullosa, Herlitz junctional, gene 2
  • epidermolytic palmoplantar keratosis
  • facioscapulohumeral muscular dystrophy
  • familial adenomatous polyposis
  • familial amytrophic lateral sclerosis (Lou Gehrig's disease)
  • Fechtner syndrome
  • fragile X
  • fumarase deficiency
  • galactosemia
  • Gaucher disease type 2
  • glucose-6-phosphate dehydrogenase
  • glycogen storage disease 1b
  • Goldberg-Shprintzen syndrome
  • Gorlin syndrome
  • haemophilia A
  • haemophilia B
  • hereditary non polyposis colon cancer 2
  • hereditary spherocytosis
  • Hirschsprung's disease
  • HLA match for Wiskott-Aldrich syndrome
  • HLA match with beta thalassemia
  • HLA match with diamond blackfan anemia
  • HLA match with hyper IgM
  • HLA match with sickle cell anemia
  • HLA matching
  • Holt Oram Syndrome
  • Hunter syndrome (mucopolysaccharidosis II A)
  • Huntington disease
  • Hyper IgM
  • hypochondroplasia
  • hypophosphatasia
  • hypophosphatemic rickets
  • incontinentia pigmenti
  • infantile neuroaxonal dystrophy
  • juvenile neuronal ceroid lipofuscinosis
  • juvenile retinoschisis
  • late infantile neuronal ceroid lipofuscinosis(Batten disease)
  • Lowe oculocerebrorenal syndrome
  • Marfan syndrome
  • medium-chain acyl-CoA dehydrogenase deficiency
  • medullary thyroid carcinoma (RET)
  • metachromatic leukodystrophy
  • mucopolysaccharidosis III B
  • multiple endocrine neoplasia 2A
  • multiple hereditary exotoses
  • myotonic muscular dystrophy
  • myotubular myopathy
  • nail-patella syndrome
  • nemaline myopathy
  • nephrogenic diabetes insipidus
  • neurofibromatosis types 1
  • neurofibromatosis types 2
  • Norrie disease
  • oculocutaneous albinism
  • ornitrine transcarbamylase deficiency
  • osteogenesis imperfecta type 1
  • palmoplantar hyperkeratosis
  • Pendred syndrome
  • pericentric inversion of X
  • polycystic kidney disease, autosomal dominant, gene 1
  • polycystic kidney disease, autosomal dominant, gene 2
  • polycystic kidney disease, autosomal recessive
  • progressive familial intrahepatic cholestasis
  • proximal myotonic myopathy
  • psoriasis, susceptibility gene
  • pulmonary alveolar proteinosis
  • retinoblastoma
  • rhesus D disease
  • Saethre-Chotzen syndrome
  • Sandhoff disease
  • sickle-cell anaemia
  • Simpson Golabi Behmel syndrome
  • spastic paraplegia
  • spinal muscular atrophy 1
  • spinal muscular atrophy 2
  • spinal muscular atrophy 3
  • split foot malformation
  • Stickler syndrome
  • sulfite oxidase deficiency
  • thyroid cancer
  • translocations - various
  • transthyretin amyloidosis
  • Treacher-Collins syndrome
  • tuberous sclerosis, gene 1
  • tuberous sclerosis, gene 2
  • Ullrich congenital muscular dystrophy
  • vitelliform macular dystrophy
  • von Hippel-Lindau disease
  • Wilms tumour
  • Wiskott-Aldrich syndrome
  • Wolman disease
  • X-linked adrenoleukodystrophy
  • X-linked choroideremia
  • Zellweger syndrome

Would you like to find out more?

Check out the PGD information in the Genea Library

Call us now and talk to a real person 1300 880 079

  • Contact us
    • Existing patients call us on
      1300 880 079
    • New inquiries call us on
      1300 361 795
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