Test Directory

Myelodysplastic Syndromes (MDS)

Myeloproliferative Neoplasia - Combo

The 2017 WHO diagnostic criteria for myeloproliferative neoplasms (MPNs) recommend molecular testing for JAK2, CALR, and MPL mutations in primary myelofibrosis (PMF) and essential thrombocythemia (ET), and for JAK2 V617F or exon 12 mutations in polycythemia vera (PV). These regions represent mutation hot spots with high clinical relevance. Frameshift mutations in CALR exon 9 are common in ET and PMF, while JAK2 exon 14 (V617F) and exon 12 mutations are hallmark drivers of MPNs. Mutations in KIT exon 17, particularly D816V, are central to systemic mastocytosis. MPL exons 9 and 10 harbor W515 mutations strongly associated with ET and PMF. In acute myeloid leukemia (AML), especially with normal karyotype, NPM1 exon 11 and the adjacent 3′UTR mutations are among the most frequent and clinically significant.

Oncology Microarray

Chromosomal Microarray

PTEN Hamartoma Tumour Syndrome (PHTS)

PTEN Hamartoma Tumour Syndrome (PHTS) is a group of related hereditary conditions caused by pathogenic variants in the PTEN gene. These conditions include Cowden syndrome, Bannayan–Riley–Ruvalcaba syndrome, and other PTEN‑related overgrowth and tumour‑predisposition disorders. Individuals with PHTS have an increased lifetime risk of developing breast, thyroid, endometrial, renal, colorectal, and melanocytic tumours, as well as characteristic mucocutaneous and developmental features. This genetic test analyses the PTEN gene using next‑generation sequencing (NGS) and deletion/duplication analysis to detect pathogenic or likely pathogenic variants associated with PHTS.

Renal cancer (19 Genes)

The Renal Cancer 19 - Gene Panel screens for mutations in genes linked to hereditary RCC syndromes. It covers major syndromes such as VHL, Birt-Hogg-Dube', hereditary papillary RCC, tuberous sclerosis, Cowden, Li-Fraumeni, and FH-related RCC, as well as rarer predisposition genes. This panel is crucial for diagnosis, risk stratification, and family counseling in unexplained or familial renal cancer.

Severe Congenital Neutropenia Panel

Somatic WES

Somatic WES

TP53 Gene Sequencing

Tumour Mutation Burden

Tumour Mutation Burden

Von Hippel Lindau syndrome

Von Hippel–Lindau (VHL) syndrome is a hereditary condition that increases the risk of developing tumours and cysts in multiple organs, including the brain, spinal cord, eyes, kidneys, pancreas, and adrenal glands. It is caused by pathogenic variants in the VHL gene and follows autosomal dominant inheritance, meaning each child of an affected individual has a 50% chance of inheriting the condition. Our VHL Genetic Test provides comprehensive analysis of the VHL gene using advanced next‑generation sequencing (NGS) and deletion/duplication testing. This enables accurate detection of variants associated with VHL syndrome, supporting early diagnosis, personalised surveillance, and proactive management.

X-linked/autosomal lymphoproliferative syndromes (4 Genes)

Xeroderma pigmentosum and its differential diagnosis (18 Genes)

Zellweger syndrome (14 Genes)

Zimmermann-Laband syndrome (3 Genes)