ABCB1 gene : Identification of the rs2032583 and rs2235015 variants
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ABCB1
Specialty
Genetics
Preanalytics
- :
- EDTA whole blood, extracted DNA (50µL, minimum 1µg)
- Ambient temperature
- A tube specifically for this analysis : No
Further information
Enclose the specific B36-INTGB request form : ABCB1 gene
Sample must be refrigerated if transport is > 48 hours
This analysis code is to be used ONLY for pharmacogenetic requests concerning the ABCB1 gene only. If other genes are requested on the prescription (in particular cytochromes such as CYP2D6, CYP2C19, ...), the EPGX code must be used (650 euros HN), which enables these different requests to be met in a single analysis.
Specific equipment available
- K34 : Kit Exome
Documents to download
Methodology
Lib Twist, Seq Illumina 2x150 Novaseq 6000. Perf: # 98% à 30x sur Refseq + 2 pb, sensibilité > 99% (perf vérifiée sur GiaB, dans cible refseq +/-20 pb avec >15 Mo de paires de lectures, et 95% de bases couvertes > 10X ). Exome accrédité ISO1589, interface d'interprétation CE-IVD, données sur serveur HDS. Séquençage snapshot des positions non couvertes en exome
Turnaround time
4 weeks
Biomnis Lyon