Updated Stargardt disease APEX panel

Published 22/10/2014

Stargardt Disease APEX micoarray now detects 647 mutations in ABCA4 gene.

NGS panel including ABCA4, CNGB3, ELOVL4, and PROM1 genes is also available for Stargardt disease diagnostics.

Expanded NGS panels

Published 20/10/2014

Usher syndrome NGS panel now includes 20 genes – ABHD12, CDH23, CIB2, CLRN1, COL4A6, DFNB31, DSPP, GIPC3, GPR98, HARS, KARS, LHFPL5, LOXHD1, MYO7A, PCDH15, PDZD7, TNC, USH2A, USH1C, and USH1G. Leber congenital amaurosis test has also been expanded to 20 genes – AIPL1, CABP4, CEP290, CRB1, CRX, GDF6, GUCY2D, IMPDH1, IQCB1, KCNJ13, LCA5, LRAT, NMNAT1, OTX2, RD3, RDH12, RPE65, RPGRIP1, SPATA7, and TULP1. Skeletal dysplasia testing panel has been updated with two new genes – TRIP11 and WNT5A.

Shorter TAT for NGS gene panels

Published 10/10/2014

We are pleased to inform you that to allow more rapid diagnosis and counseling of patients we have started to provide NGS service with considerably shorter turnaround time. From now on TAT is 8 weeks for genotyping and 12 weeks for diagnostic package service for all NGS panels.