Test Directory

Hereditary Multiple Exostoses Panel

Hereditary Myeloid/Myelodysplastic Syndrome/ Inherited predisposition to acute myeloid leukaemia (112 Genes)

Hereditary Myeloid/Myelodysplastic Syndrome/ Inherited predisposition to acute myeloid leukaemia (112 Genes)

Hereditary Pancreatits-single mutation (SPINK1 - N34S)

Hereditary Pheochromocytoma and Paraganglioma Panel (10 Genes)

Hereditary Prostate Cancer Panel (13 Genes)

Inherited Bone marrow Failure (107 Genes)

Leber Hereditary Optic Neuropathy (LHON)- 3 mutations (G3460A, G11778A, T14484C)

Lynch Syndrome Panel (8 Genes)

MD- Retinoblastoma (RB1 Gene)

Mesothelioma (28 Genes)

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.

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

TP53 Gene Sequencing

X-linked/autosomal lymphoproliferative syndromes (4 Genes)

Xeroderma pigmentosum and its differential diagnosis (18 Genes)

Zellweger syndrome (14 Genes)

Zimmermann-Laband syndrome (3 Genes)