SC Phocomelia syndrome (ESCO2)
Sample Type: EDTA Blood 3ml, One drop Blood FTA Card, Swabs, 2 uml DNA
Reporting Time: 6 Weeks
SC Phocomelia syndrome (ESCO2) 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.