Test Directory

Alpha - Thalassaemia -MLPA reflexed to Sanger Sequencing

Molecular diagnosis of alpha thalassaemia. Deletions in the HBA1 and HBA2 genes are found in over 98% of alpha thalassemia cases with seven founder mutations accounting for ~95% of all alpha thalassemia cases: -α3.7, -α4.2, -(α)20.5, --SEA, --MED, --FIL, and - THAI. Patients with non-deletional forms of alpha thalassemia often present with more severe disease. The most common point variant found in Asian populations is Hemoglobin Constant Spring (HbCS) which abolishes the canonical termination codon in the HBA2 gene, c.427T>C (p.*143Gln)

Alpha- Thalassaemia -MLPA reflexed to Sanger Sequencing -Prenatal (amniotic fluid/CVS)

Molecular diagnosis of alpha thalassaemia. Deletions in the HBA1 and HBA2 genes are found in over 98% of alpha thalassemia cases with seven founder mutations accounting for ~95% of all alpha thalassemia cases: -α3.7, -α4.2, -(α)20.5, --SEA, --MED, --FIL, and - THAI. Patients with non-deletional forms of alpha thalassemia often present with more severe disease. The most common point variant found in Asian populations is Hemoglobin Constant Spring (HbCS) which abolishes the canonical termination codon in the HBA2 gene, c.427T>C (p.*143Gln)

Anaemia ,congenital (88 Genes)

Beta -T halassaemia /Hbpathoies- NGS reflexed to MLPA (Prenatal)

Molecular diagnosis of alpha thalassaemia. Deletions in the HBA1 and HBA2 genes are found in over 98% of alpha thalassemia cases with seven founder mutations accounting for ~95% of all alpha thalassemia cases: -α3.7, -α4.2, -(α)20.5, --SEA, --MED, --FIL, and - THAI. Patients with non-deletional forms of alpha thalassemia often present with more severe disease. The most common point variant found in Asian populations is Hemoglobin Constant Spring (HbCS) which abolishes the canonical termination codon in the HBA2 gene, c.427T>C (p.*143Gln)

Diamond-Blackfan anaemia (23 Genes)

Diamond-Blackfan anemia (DBA) is a rare congenital blood disorder characterised by failure of the bone marrow to produce red blood cells, leading to anaemia that typically presents in infancy.

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)

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.