Conditions for which we offer PGD
AR and AD conditions using PGH
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These include:
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Cystic Fibrosis – any mutation
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Spinal muscular atrophy
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Herlitz Junctional Epidermolysis bullosa (LAMA3 and LAMB3 genes)
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Myotonic dystrophy
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Huntington disease including linkage exclusion
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Partial lipodystrophy
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Von Hippel Lindau
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ARPKD
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Sickle cell disease (HbSS/HbSC)
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SMARD1
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Marfans syndrome
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Recessive dystrophic epidermolysis bullosa
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NF1
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Tay Sachs
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Familial adenomatous polyposis
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Smith Lemli Opitz
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Hallopeau Siemens epidermolysis bullosa
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X Linked conditions using PGH
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These include:
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Duchenne and Becker muscular dystrophy
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Haemophilia A & B
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Fragile X syndrome
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Alports syndrome
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Adrenoleucodystrophy
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XL hydrocephalus (L1CAM)
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Retts syndrome
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Incontinentia pigmenti
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XL SCID
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These include:
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Reciprocal translocations (assessed individually)
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Robertsonian translocations
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Deletion 22q11
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Inversions (assessed individually)
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Other rearrangements considered on an individual basis
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These include:
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Hunter syndrome
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Choroideraemia
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Wiskott-Aldrich
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Pelizaeus -Merzbacher
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Anderson Fabry
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OTC deficiency
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Retinitis pigmentosa
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Other conditions
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These include:
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Recurrent molar pregnancy
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Recurrent digynic triploidy
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Recurrent primary trisomy 21
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It may be possible to test for conditions that are not yet on this list and we are happy to receive referrals for these.
Our success rates and cycles started compared to other centres in the UK offering PGD| (PDF 34Kb).