Genetics Working Party

Hospital Universitari Vall d'Hebron (HUVH) - Spain

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Contact: Roger Colobran ( )

Institution: Hospital Universitari Vall d'Hebron (HUVH)

Location: Barcelona, Catalonia (Spain)

Department (involved in PID genetic diagnosis): Immunogenetics Area (belonging to the Immunology Division and Genetics Department).

Head of Immunogenetics Area: Dr. Roger Colobran

Resources

NGS PID Targeted Gene Panel: The panel contains 323 genes causing PIDs. The panel is used as the first routine approach for the genetic diagnosis of patients with PID suspicion. Important data:

-        Good mean coverage (>200x)

-        Samples per run: 16

-        Sequencer: MiSeq (Illumina)

-        Frequency: one panel every 3-4 weeks (depending on demand)

-        Availability: Available for all patients attending public hospitals from Catalonia and Spain

-        Services included: Sequencing, data analysis, and official genetic report. The pathogenic variants are also confirmed by Sanger sequencing as well as the familial testing

 

Other important points:

-      The department also performs WES in a research context for patients with negative results in the panel and strong suspicion of PID

-      The department is very interested in research, and is open to receive samples from other centers as a collaboration

-      Functional studies can be performed in the laboratory (in case they have experience in the gene or the technique required), or the laboratory can contact other centers with more expertise (collaboration is the best way to progress in science)

-      The department offers clinical assessment of patients since it has a PID pediatric specialized unit (lead by Dr. Pere Soler-Palacín)

 

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PID Genes

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