Test Directory
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CD33SNP Genotyping
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.
OncogeneticsFamilial hemiplegic migraine, CADASIL, retinal vasculopathy with cerebral leukodystrophy, hereditary hemorrhagic telangiectasia, familial cerebral cavernous malformations & alternating hemiplegia of childhood (10 Genes)
This panel analyzes 10 genes associated with hereditary cerebral vascular disorders and related neurological conditions presenting with migraine, stroke-like episodes, cerebral vasculopathy, and childhood paroxysmal neurological events. Testing is indicated for individuals with clinical suspicion of the following conditions: Familial Hemiplegic Migraine (FHM), CADASIL, Retinal Vasculopathy with Cerebral Leukodystrophy (RVCL), Hereditary Hemorrhagic Telangiectasia (HHT), Familial Cerebral Cavernous Malformations (FCCM) and Alternating Hemiplegia of Childhood (AHC)
Oncogenetics