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.
OncogeneticsBAP1 Associated Tumour Predisposition Syndrome
BAP1‑Associated Tumour Predisposition Syndrome (BAP1‑TPDS) is a hereditary cancer syndrome caused by pathogenic variants in the BAP1 gene. Individuals with BAP1‑TPDS have an increased lifetime risk of developing several malignancies, often at younger ages than the general population. Early identification of a BAP1 pathogenic variant enables proactive surveillance, early tumour detection, and informed management for both patients and at‑risk family members.
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.
OncogeneticsBreast Cancer Panel (15 Genes)
This multi-gene panel analyses 15 genes associated with inherited susceptibility to breast, ovarian, endometrial, and other related cancers. It is designed for individuals with a personal or family history suggestive of a hereditary cancer predisposition, particularly when BRCA1 and BRCA2 testing is inconclusive or when a broader hereditary cancer syndrome is suspected
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.
OncogeneticsCEBPA Mutation Testing
CEBPA mutation testing is a critical diagnostic and prognostic assay in acute myeloid leukemia (AML), especially in patients with normal cytogenetics. Double (biallelic) CEBPA mutations are associated with a favorable prognosis, while single mutations carry less predictive value. Testing is typically performed using sequencing-based methods (Sanger or NGS) on bone marrow or peripheral blood samples.
OncogeneticsComprehensive Cancer Panel (152 gene)
The Comprehensive Cancer Gene Panel is an extensive next‑generation sequencing (NGS) assay designed to detect inherited genetic variants that increase the risk of a wide range of cancers. This panel analyses over 180 cancer‑associated genes, covering tumour‑suppressor genes, oncogenes, DNA repair genes, and genes involved in hereditary cancer syndromes such as Breast and ovarian cancer; Colorectal and gastrointestinal cancers; Endocrine and neuroendocrine tumours; Sarcomas and childhood cancers; Renal, urologic and prostate cancer; Pancreaic cancer, Haematologic malignancies; Rare hereditary cancer syndromes.
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)
OncogeneticsGastro-Intestinal Tract Tumours (28 Genes)
The Gastro‑Intestinal Tract Tumours Panel is a comprehensive genetic test designed to identify inherited predispositions to cancers of the colon, rectum, stomach, pancreas, and small intestine. This panel analyses 28 clinically relevant genes associated with hereditary colorectal cancer, gastric cancer, polyposis syndromes, and other GI tumour‑predisposition conditions. Hereditary GI cancers often present at younger ages, involve multiple polyps, or cluster across generations. Early genetic detection enables personalised surveillance, targeted prevention, and informed management for patients and families.
Oncogenetics