Next Generation Sequencing
In approximately 80-90% of clinically diagnosed complex genetic diseases the causative gene variation is not found by single gene testing. This is due to the fact that the classical sequencing of gene by gene is excessively expensive and very time consuming.
Advanced Medical Diagnostic in collaboration with its laboratory partners uses the latest Next Generation DNA sequencing technologies to sequence all genes associated with a certain disease simultaneously. This approach is much faster and considerably less expensive than the classical gene by gene sequencing. In addition the probability of finding the causative gene variation is significantly higher.
Epilepsy
- Generalized / Myoclonic Epilepsies, Febrile Seizures, Absences
- Epileptic Encephalopathies
Hereditary Cancer Syndromes
- Breast cancer
- Colon cancer and polyposis syndromes (Lynch Syndrome)
- Prostate cancer
- Endocrine tumours
Congenital Brain Malformations
- Microcephaly
- Pontocerebellar Hypoplasia
- Neuronal Migration Disorders
- Holoprosencephalie
Sensorineural Hearing Loss (SNHL)
- Nonsyndromic
- Autosomal recessive autosomal dominant
- X-linked
Inborn Errors of Metabolism
- Leukodystrophies and Disorders of Peroxisome Biogenesis
- Lysosomal Storage Disorders
- Congenital Disorders of Glycosylation (CDG)
- Ceroidlipofuscinosis
- Selected Mitochondrial Disorders