Molecular diagnosis of hereditary diseases
The AGC laboratory has the ability to sequence a large number of a patient’s genes and thus diagnose inherited genetic diseases. These DNA tests are recommended for people who have a family history of the disease, the suspicion that they have a hereditary disease, or people who want to check if they are carriers of a certain disease. To perform the analysis, the patient needs to draw blood.
Services and prices
These services are recommended for accurate diagnosis of patients. Click on each one for more information.
Epilepsy
NGS panel including genes associated with juvenile myoclonic epilepsy, genetic epilepsy with febrile seizures, hereditary sensory neuropathy, Brugada sy. etc.
Cistična fibroza
CFTR gene sequencing (27 exons) including deltaF508 and G542X hotspot mutations. Since the delta F508 mutation is the most common, the first sequencing of exon 10 on which it is located is always recommended.
Muscular dystrophies
NGS panel containing genes associated with the onset of Duchene muscular dystrophy, Becker muscular dystrophy, Limb-Girdle muscular dystrophy, and Emery-Dreifuss muscular dystrophy. In addition to this finding, we also offer genetic counseling.
Beta Talasemija
Molecular analysis of the HBB gene responsible for the development of beta thalassemia. The test involves 26 different mutations in the HBB gene.
Familijarna mediteranska groznica
Fragment analysis of the MEFV gene responsible for familial Mediterranean fever (exons 2, 3, 5 and 10) on 18 different mutations.
Autizam
An NGS panel comprising of 81 genes associated with the onset of autism. In addition to this panel, we also offer genetic counseling.
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