Test Directory

Erythrocyte (red cell) Enzymopathies (15 Genes)

Our Erythrocyte Enzymopathies NGS Gene Panel analyses 15 genes associated with inherited red blood cell enzyme disorders. These conditions often present with hereditary non-spherocytic haemolytic anaemia (HNSHA), neonatal hyperbilirubinaemia, or drug-induced haemolysis. This panel aids in accurate diagnosis, guiding management, and informing family counselling.

Erythrocytosis NGS Gene panel (10 Genes)

Our Erythrocytosis NGS Gene Panel analyses 10 genes associated with inherited and acquired causes of erythrocytosis (elevated red blood cell mass). This panel aids in the differential diagnosis of primary and secondary erythrocytosis, guiding appropriate management and family counselling.

Fanconi anaemia

Fanconi anaemia (FA) is a rare inherited disorder characterised by bone marrow failure, congenital abnormalities, and a significantly increased risk of cancer, particularly acute myeloid leukaemia (AML).

Haemolytic anaemia, Hereditary - Panel (72 Genes)

Our Hereditary Haemolytic Anaemia NGS Gene Panel analyses 68 genes associated with inherited disorders of red blood cell (RBC) membrane structure, RBC enzyme function, haemoglobin synthesis, and congenital dyserythropoiesis. This panel aids in the differential diagnosis of hereditary haemolytic anaemias, guiding appropriate management and family counselling.

Hemophilia and other bleeding disorders (32 Genes)

Hereditary red cell membrane disorders [including: hereditary spherocytosis, elliptocytosis, pyropoikilocytosis, and stomatocystosis] (14 Genes)

This targeted next‑generation sequencing panel analyzes genes associated with inherited defects of the red blood cell membrane, including hereditary spherocytosis, elliptocytosis, pyropoikilocytosis, and stomatocytosis. Mutations in these genes can lead to abnormal red cell structure, reduced stability, and hemolytic anemia.

Southeast Asian Ovalocytosis

Southeast Asian Ovalocytosis (SAO) is a hereditary red blood cell membrane disorder caused by a mutation in the SLC4A1 gene, leading to stiff, oval-shaped erythrocytes and mild hemolytic anemia. It is common in parts of Southeast Asia and may confer partial protection against malaria.

Autoinflammatory immunodeficiencies (18 Genes)

Behçet's disease

This genetic test detects the presence of the HLA-B*51 allele, a genetic risk factor associated with Behçet’s disease. The result may assist in supporting the clinical diagnosis of Behçet’s disease when interpreted alongside clinical findings, but is not diagnostic on its own.

Bird Shot Retinopathy (HLA-A29)

Birdshot retinopathy is a rare form of posterior uveitis and accounts for 1-3% of uveitis cases in general. Birdshot retinopathy causes severe, progressive inflammation of both the choroid and the retina. Birdshot retinopathy is the disease with the strongest association to a HLA class I antigen, with more than 95% of patients carrying the HLA-A29 antigen. HLA-A*29:02, which is the most frequent A29 allele in the Caucasian population is also the allele most frequently associated with Birdshot retinopathy in Caucasians. The disease has however been observed in HLA*29:01 Caucasian patients.

Celiac Disease

Celiac disease is a chronic, inherited autoimmune disorder in which exposure to gluten proteins from wheat, barley, and rye provokes an abnormal immune response in genetically predisposed individuals, resulting in small intestinal mucosal injury, villous atrophy, and impaired nutrient absorption; clinically, it presents with a broad spectrum of gastrointestinal and systemic symptoms, and management requires lifelong adherence to a strict gluten‑free diet to achieve mucosal healing and prevent complications.

Chronic granulomatous disease (6 Genes)

Common variable immunodeficiency (13 Genes)

Crohn's Disease

HLA - B*1502

HLA - B*27

HLA - DQ2.5 (HLA-DQA1*05 / HLA-DQB1*02 alleles)

HLA-B*58:01 (Allopurinol Hypersensitivity Testing)

HLA-B*58:01 is a genetic variant strongly associated with severe, potentially life-threatening hypersensitivity reactions to the drug allopurinol, particularly in certain ethnic populations.

HLA-C*06 (Psoriasis vulgaris / Ustekinumab Response)

HLA-C*06:02 is a genetic marker strongly associated with psoriasis vulgaris and may influence clinical response to ustekinumab, a biologic therapy targeting IL-12/IL-23.

HLA-DRB1 Alleles

HLA‑DRB1 allele testing identifies specific genetic variants within the HLA class II region, focusing on the DRB1 locus. These alleles are strongly associated with immune regulation and susceptibility to autoimmune diseases. Molecular typing provides high‑resolution results that refine classical HLA serotype assignments (e.g., DR2, DR3, DR4) and support clinical risk assessment.