We use cookies on this website. See how you can control your settings|.



Conditions for which we offer PGD


 

Autosomal recessive and dominant conditions tested using preimplantation genetic haplotyping (PGH)

These include:

1.   Aicardi-Goutieres syndrome 1 (AGS1)|

2.   Alpha mannosidosis|

3.   Amyotrophic lateral sclerosis 1 (ALS1)|
4.   Ataxia-telangiectasia|
5.   Beta-thalassemia|
6.   Bethlem myopathy|
7.   Breast cancer, BRCA 1|

8.   Breast cancer, BRCA 2|

9.   Cystic fibrosis - any mutation|
10. Ehlers-Danlos syndrome type IV|
11. Familial adenomatous polyposis coli (FAP)|
12. Hallopeau Siemens epidermolysis bullosa|

13. Herlitz junctional epidermolysis bullosa (LAMA3 and LAMB3 genes)|

14. Huntington disease |(including linkage exclusion)|

15. Leigh syndrome|
16. Lipodystrophy|
17. Macular dystrophy retinal 2|
18. Marfan syndrome|
19. Methylmalonic acidurea|
20. Myotonic |dystrophy|
21. Neurofibromatosis type 1|
22. Partial lipodystrophy|
23. Plakophilin|
24. Polycystic kidney disease, autosomal dominant|
25. Polycystic kidney disease, autosomal recessive|
26. Prader-|Willi syndrome|
27. Reticular dysgenesis|
28. Sanjad-Sakati syndrome|
29. Sickle cell disease (HbSS/HbSC)|
30. Smith-Lemli-Opitz syndrome|
31. Spinal muscular atrophy type 1|
32. Spinal Muscular Atrophy and Respiratory Distress (SMARD1)|
33. Spondyloepiphyseal dysplasia|
34. Tay-Sachs disease|
35. Tyrosinaemia type 1|
36. Von Hippel-Lindau syndrome (VHL)|


X Linked conditions using PGH


These include:

1.   Adrenoleucodystrophy|

2.   Alport syndrome|

3.   Fragile X syndrome|

4.   Haemophilia A|

5.   Haemophilia B|

6.   Hipohidrotic ectodermal dysplasia|

7.   Hydrocephalus (L1CAM)|
8.   Incontinentia pigmenti|
9.   Muscular dystrophy, Becker|
10. Muscular dystrophy, Duchenne|
11. Pelizaeus-Merzbacher disease|
12. Rett syndrome|
13. Wiskott-Aldrich syndrome|
14. Severe combined immune deficiency (XL SCID)|

Chromosome rearrangements using FISH| (PDF 338Kb)


These include:

1. Deletion 22q11 (including DiGeorge| & Velocardiofacial syndrome|)

2. Inversions (assessed individually) - 12 rearrangements to date.

3. Other rearrangements considered on an individual basis - 11 rearrangements to date.

4. Reciprocal translocations (assessed individually) - 167 rearrangements to date.
5. Robertsonian translocations - 8 rearrangements to date.

X linked conditions using FISH for embryo sexing| (PDF 161Kb)


These include:

1. Anderson Fabry|

2. Choroideraemia|

3. Hunter syndrome|

4. Ornithine carbamoyl transferase (OTC) deficiency|
5. Retinitis pigmentosa|

Other conditions


These include:

1. Recurrent molar pregnancy|

2. Recurrent digynic triploidy|

3. Recurrent primary trisomy 21|

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

Our success rates and cycles started compared to other centres in the UK offering PGD| (PDF 24Kb).