| Single gene disorders
studied and results obtained In 6
years, research group of “Genoma” Laboratory have developed PGD
protocols for over 20 different conditions, amongst which preimplantation HLA
matching in association with Beta Thalassemia or other Hemoglobinophaties.
Preimplantation Genetic Diagnostic procedures have been
attempted by GENOMA for the following single gene disorders :
Table I:
PGD for single gene disorders performed in Genoma's Lab
| Disease |
No. |
Disease |
No. |
| Cystic Fibrosis |
23 |
Duchenne/Becker Muscular Dystrophy |
8 |
| Beta Thalassemia |
41 |
Sickle Cell Anemia |
6 |
| Retinoblastoma |
3 |
Wiskott-Aldrich |
1 |
| Hemophilia A |
5 |
Charcot Marie Tooth X-linked (CMTX) |
1 |
| Hemophilia B |
3 |
Alzheimer |
1 |
| Spinal Muscular Atrophy (SMA) |
5 |
Alpha-Thalassemia Mental Retardation Syndrome, X-Linked
(ATRX) |
1 |
| Myotonic Dystrophy |
6 |
Beta Thalassemia + HLA matching |
14 |
| Holt-Horam Syndrome |
1 |
HLA matching (Leukemia) |
2 |
| Lesch-Nyhan Syndrome |
1 |
21-Idroxilase |
1 |
| Neurofibromatosis |
2 |
Primary Dystonia |
1 |
Table II: Results obtained
| Indication |
No. |
| PGD for monogenic disorders |
123 |
| PGD for monogenic disorders + HLA typing |
15 |
| PGD for HLA typing |
2 |
| Pregnancies obtained |
29 |
| Healthy babies already born |
19 |
| Misdiagnosis |
0 |
|
