Through ClientSite you can filter variants and download your reports
Dysmorphology
Other services
Variants segregation / Family studies
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
Gene sequencing
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).
MLPA
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.
Variants segregation / Family studies
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
Gene sequencing
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).
MLPA
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.
Pablo Gargallo, MD
Head of Medical Genetics
Steps to follow
How to order
1. Download & fill out
Please cover as many fields as possible in both documents
2. Sample collection
Three sample types: saliva, peripheral blood or genomic DNA
3. Pack the sample
Please pack the sample in a way to prevent leakage
4. Send the sample & the request
Please schedule the delivery for Monday–Friday: 8am – 5pm
5. Result: the report
Via: e-mail and/or through the customer portal
Request information on Dysmorphology
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