Generalized retinal dystrophies:

Macular retinal dystrophies:

Hereditary vitreoretinopathies:

Albinism:

Other services

Turnaround time (TAT): 2 weeks

Studies of carriers 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 in atencionalcliente@healthincode.com

Turnaround time (TAT): 35 days

Service of sequencing and interpretation of individual genes. Depending on its size and the regions of interest, we can offer an approach based on Sanger sequencing or based on NGS (enrichment by amplicons or by hybridization probes). NGS-based approach enables detection of copy number variation (CNV).

Turnaround time (TAT): 35 days

Semi-quantitative and widely contrasted technique in molecular genetics laboratories, that allows the diagnosis of pathologies due to variation in the number of copies and, in some cases, to 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 the MRC-Holland kits.