The genomic dna sample was sent to (b)(4) for bi-directional sequencing.Sequencing interrogated rh gene exons 1 to 10 and the allele genotype rhce*ce, rhce*ce(486+1a) was identified.The splice site variant in intron 3, rhce:c.486+1g>a, encodes a rh null phenotype.This allele is reported by isbt as rche*cen.03 associated with c- e- phenotypes.Id core xt reported a predicted c+ phenotype, but null rhce*ce(486+1a) variant allele, not interrogated by id core xt, is associated with a c- phenotype.This false positive result obtained by id core xt is considered a discrepant result and then a malfunction.This case report is covered by limitations number 1 and 8 of id core xt package insert.
|