| |
 |
PCR and DNA sequential analysis for all
defined single gene defects |
| |
|
Thalassemia |
|
Cystic Fibrosis |
|
Hemophilia |
|
Sickle Cell Anemia |
|
Muscular Dystrophies |
|
Disorders like Fragile X, etc. |
|
|
|
HLA Genotyping |
|
Y-Chromosome Microdeletion Analysis |
|
PGD for single gene disorders |
| |
-
FMF
-
SMA
-
Trombophilia
-
ALD
-
TSC
-
Fanconi
anemia
-
Familial Mediterranean Fever
-
Factor II, V, VII (Trombofili)
-
MTHFR
enzyme mutations
-
Adrenoleucodystrophy
-
Tuberosclerosis
-
Fanconi
anemia
-
Retinitis pigmentosa (Rhodopsin gene)
-
Mucopolysaccharidosis (Type III)
|
|
|
 |
| |
Y-Chromosome Micro-deletion Analysis |
|