Through ClientSite you can filter variants and download your reports
Nephrology
Other services
Variant segregation / Family studies
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 customercare@healthincode.com
Gene sequencing
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).
MLPA testing
TAT (turnaround time): 35 days
Semiquantitative technique that is widely applied in molecular genetic laboratories and that allows diagnosing pathologies caused by copy number variations and, in some cases, by alterations in DNA methylation. A wide variety of commercial kits are available to test individual genes, gene panels related to specific pathologies, or large chromosomal regions involved in microdeletion/microduplication syndromes. HIC offers MLPA services based on MRC-Holland kits.
Variant segregation / Family studies
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 customercare@healthincode.com
Gene sequencing
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).
MLPA testing
TAT (turnaround time): 35 days
Semiquantitative technique that is widely applied in molecular genetic laboratories and that allows diagnosing pathologies caused by copy number variations and, in some cases, by alterations in DNA methylation. A wide variety of commercial kits are available to test individual genes, gene panels related to specific pathologies, or large chromosomal regions involved in microdeletion/microduplication syndromes. HIC offers MLPA services based on MRC-Holland kits.
Jose M. García-Aznar
Head of the area of Nephrology
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
Solicita información de Nefrología
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