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

 



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.