Test Code: CD33SN
CD33SNP Genotyping
Oncogenetics
An NGS based assay of the CD33 rs12459419 (dbSNP) polymorphism, leveraging on amplicon sequencing to differentiate between C and T alleles. The CC genotype appears to have a substantial response to Gemtuzumab Ozogamicin (GO), whereas, CT or TT genotypes are associated with a suboptimal response to GO. The c.41C>T (p.Ala14Val) variant alters the exonic splicing enhancer (ESE) binding site for SRSF2 which has been associated to skipping of exon2, resulting in the shorter CD33 isoform (D2-CD33), which lacks the IgV domain. Detection of CD33 isoforms without exon2-encoding IgV domain is clinically important because this domain contains the immune-dominant epitope (hP67.6) which is used for diagnostic immunophenotyping, and the target for the antibody that is conjugated to calicheamicin in GO and other CD33 targeted therapies.
Sample Type
30 ml peripheral blood in EDTA (purple/pink top) tube, refrigerated; 2-5 ml of bone marrow aspirate in EDTA (purple/pink top) tube, refrigerated
Turnaround Time
10 Days days
Courier Requirements
Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.
Pricing
Login to view pricing
Need Help with This Test?
Our team of board-certified genomic scientists is available to answer your questions about test selection, sample requirements, and result interpretation.