Through ClientSite you can filter variants and download your reports
Nephropathies
Sequencing Panels
Turnaround time (TAT): 5 weeks
- Genetic glomerular diseases [138 genes]
- Nephrotic syndrome [86 genes]
- Genetic glomerulonephritis [44 genes]
- Focal segmental glomerulosclerosis (FSGE) [29 genes]
- Atypical hemolytic-uremic syndrome (aHUS) [17 genes]
- Alport syndrome [6 genes]
- Fabry disease [1 gene]
- Polymalformative syndromes associated with kidney involvement [265 genes]
- CAKUT syndrome [63 genes]
- Renal tubular dysgenesis (RTD) [4 genes]
- Neural tube defects) [24 genes]
- Tubulointerstitial and metabolic kidney diseases [283 genes]
- Renal tubular acidosis (RTA) [29 genes]
- Bartter syndrome [11 genes]
- Gitelman syndrome [1 gene]
- Liddle syndrome (pseudoaldosteronism) [7 genes]
- Primary hyperoxaluria [3 genes]
- Cystinuria [2 genes]
- Primary xanthinuria [2 genes]
- Hypomagnesemia [14 genes]
- Hypophosphatemic rickets [12 genes]
- Nephrogenic diabetes insipidus [3 genes]
- AD polycystic kidney disease (PKD1, PKD2, GANAB) [3 genes]*
- AD polycystic kidney disease (ADPKD) [13 genes]**
- Autosomal recessive polycystic kidney disease (ARPKD) [5 genes]**
- Nephronophthisis [36 genes]
- Joubert syndrome [34 genes]
- Meckel-Gruber syndrome [20 genes]
- Senior-Løken syndrome [14 genes]
- Bardet–Biedl syndrome [24 genes]
- AD tubulointerstitial nephropathy [5 genes]
*Includes a specific analysis of exons 1-33 of PKD1.
**Not includes a specific analysis of exons 1-33 of PKD1.
- Nephropathies Global Panel [529 genes]
Other services
Exome sequencing
Check all the exomes that we offer:
See all exomes
Variant segregation / Family studies
TAT (turnaround time): 2 weeks
Sanger sequencing studies on carriers of variants that have been previously described in the family.
Gene sequencing
TAT (turnaround time): 35 days
Individual gene sequencing and interpretation service. Depending on its size and on the regions of interest, we can offer an approach based on Sanger sequencing or on NGS (enrichment using amplicons or hybridization probes). The NGS-based approach allows detecting copy number variations (CNVs).
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.
Check all the exomes that we offer:
See all exomesTAT (turnaround time): 2 weeks
Sanger sequencing studies on carriers of variants that have been previously described in the family.
TAT (turnaround time): 35 days
Individual gene sequencing and interpretation service. Depending on its size and on the regions of interest, we can offer an approach based on Sanger sequencing or on NGS (enrichment using amplicons or hybridization probes). The NGS-based approach allows detecting copy number variations (CNVs).
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 Nephropathies
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 Mon–Thur: 8am – 5pm
5. Result: the report
Via: Client Site HIC / Client Site Imegen / Certified email
Ask us for more information on our Nephropathies services
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