Other services

TAT(Turnaround time): 2 weeks

Carrier studies of previously described variants in the family using Sanger sequencing.

For structural variants (rearrangement, copy-number variation [insertions, deletions and duplications], inversions, translocations, etc. consult customercare@healthincode.com

TAT(Turnaround time): 35 days

Sequencing and interpretation service for individual genes. Depending on its size and the regions of interest, we can offer an approach based on Sanger sequencing or NGS (enrichment by amplicons or by hybridization probes). The NGS-based approach allows detection of copy number variations (CNVs).

TAT(Turnaround time): 35 days

Semi-quantitative technique widely contrasted in molecular genetics laboratories that allows the diagnosis of pathologies due to copy number variants, and in some cases, methylation alterations. There are many commercial kits for the study of individual genes, panels of genes related to certain pathologies or extensive chromosomal regions involved in microdeletion/microduplication syndromes. HIC offers MLPA services based on MRC-Holland kits.