Microcephaly with epilepsy and diabetes syndrome (IER3IP1)
Sample Type: EDTA Blood 3ml, One drop Blood FTA Card, Swabs, 2 uml DNA
Reporting Time: 6 Weeks
Microcephaly with epilepsy and diabetes syndrome (IER3IP1) genes will be analysed by PCR and next-generation sequencing of both DNA strands of the entire coding region and the highly conserved exon-intron splice junctions. PCR-based amplicon library capture will be utilized. We have a minimum coverage of 30x for every amplicon.
Next Generation Sequencing (NGS) technologies have emerged as a powerful tool for the discovery of causative mutations in rare Mendelian disease genes and are rapidly impacting genetic diagnostics. NGS technologies can be used in combination with DNA enrichment methods to generate deep sequencing of target genome regions, such as the exome or known disease loci, delivering fast, inexpensive, and detailed genetic information.