Test Directory
Browse our comprehensive catalog of genetic tests
Acute myeloid leukemia (15 Genes)
Acute myeloid leukemia (AML) is a rapidly progressing myeloid neoplasm characterized by the clonal expansion of primitive hematopoietic stem cells, known as blasts, in the bone marrow.
OncogeneticsBloom syndrome
Bloom syndrome is a rare autosomal recessive disorder caused by mutations in the BLM gene. It is characterized by genomic instability, short stature, sun-sensitive skin rash, immune dysfunction, and a markedly increased risk of cancer. Diagnosis relies on clinical features, cytogenetic findings, and genetic testing, while management focuses on surveillance and supportive care. Bloom syndrome is a classic example of a chromosomal instability disorder.
OncogeneticsBone Marrow Karyotyping
Chromosome analysis of bone marrow is a key tool for assessing remission or relapse of malignancy and identifying abnormal clones, with a normal karyotype in conditions such as myelodysplastic syndrome, acute myeloid leukemia, acute lymphoblastic leukemia, or lymphoproliferative disorders generally serving as a favorable prognostic indicator; follow-up specimens may be submitted to monitor karyotypic evolution as the clinical course changes, and bone marrow is the preferred sample type over peripheral blood, with a minimum of 20 cells analyzed, while stimulated and unstimulated blood cultures are established only if peripheral blood is received alongside bone marrow, and stimulated blood cultures are examined only if bone marrow cultures fail, with GTW banding performed on metaphase spreads.
OncogeneticsCD33SNP 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.
Oncogenetics