Conditions for which we offer PGD

AR and AD conditions using PGH
Cystic Fibrosis – any mutation	Spinal muscular atrophy
Herlitz Junctional Epidermolysis bullosa (LAMA3 and LAMB3 genes)	Myotonic dystrophy
Huntington disease including linkage exclusion	Partial lipodystrophy
Von Hippel Lindau	ARPKD
Sickle cell disease (HbSS/HbSC)	SMARD1
Marfans syndrome	Recessive dystrophic epidermolysis bullosa
NF1	Tay Sachs
Familial adenomatous polyposis	Smith Lemli Opitz
Hallopeau Siemens epidermolysis bullosa

X Linked conditions using PGH include:
Duchenne and Becker muscular dystrophy	Haemophilia A & B
Fragile X syndrome	Alports syndrome
Adrenoleucodystrophy	XL hydrocephalus (L1CAM)
Retts syndrome	Incontinentia pigmenti
XL SCID

Chromosome rearrangements using FISH include:
Reciprocal translocations (assessed individually)	Robertsonian translocations
Deletion 22q11	Inversions (assessed individually)
Other rearrangements considered on an individual basis

Chromosome rearrangements using FISH include:

Reciprocal translocations (assessed individually)

Robertsonian translocations

Deletion 22q11

Inversions (assessed individually)

Other rearrangements considered on an individual basis

X linked conditions using FISH for embryo sexing include:
Hunter syndrome	Choroideraemia
Wiskott-Aldrich	Pelizaeus -Merzbacher
Anderson Fabry	OTC deficiency
Retinitis pigmentosa

Other conditions include:
Recurrent molar pregnancy	Recurrent digynic triploidy
Recurrent primary trisomy 21

It may be possible to test for conditions that are not yet on this list and we are happy to receive referrals for these.