English Text
Direct Sequencing (Sanger Sequencing) Method
Next Generation Sequencing
Clinical Exome Sequencing
Targeted Exome Sequencing
Chromosomal Microarray Analysis
Multiplex Ligation Dependent Probe Amplification
High Resolution Melting - HRM Analysis
Fragment analysis
Other Methods
RT-PCR
MS-MLPA
Clinical Exome Sequencing
Services • Methods
Analysis of the coding part and ezon/intronic boundaries of 4813 known genes, associated with human disease.
Suitable for patients with complicated clinical pictures, resembling a genetic syndrome, in the absence of a guiding clinical diagnosis and/or in the presence of several probable differential diagnoses: