Test Directory

Whole Mitochondrial Genome Sequencing

Whole mitochondrial genome, single gene(s), common pathogenic variants, large-scale mtDNA rearrangements, including mtDNA NGS. Determination of level of heteroplasmy. Index case and familial/predictive testing.

Cartilage-hair hypoplasia and anauxetic dysplasia spectrum disorders (11 Genes)

Ectodermal dysplasia (30 Genes)

Evaluation of patients with suspected ectodermal dysplasia syndromes, characterized by abnormalities in hair, teeth, nails, sweat glands, and skin

Epidermolysis bullosa (29 Genes)

Epidermolysis bullosa (EB) is a group of inherited disorders characterised by extremely fragile skin that blisters and tears easily, often in response to minor friction or trauma. Over 20 genes are associated with EB, including COL7A1, KRT5, KRT14, LAMA3, LAMB3, LAMC2, and ITGB4, depending on the subtype.

Poikiloderma spectrum (4 Genes)

Poikiloderma is not a single disease but a spectrum of skin changes characterized by a triad of atrophy, telangiectasia (visible small blood vessels), and mottled pigmentation (areas of hypo‑ and hyperpigmentation). It can be congenital, inherited, or acquired, and appears in several distinct clinical contexts.

BRAF V600 Mutation

BRAF p.Val600Glu (V600E) Mutation Status for Hairy Cell Leukaemia - useful tool in the differential diagnosis of mature B-cell neoplasms

CALR Exon 9 (Sequencing)

Test to determine if a patient with clinical indications of a myeloproliferative disorder has somatic mutations calreticulin gene variant. This testing is for somatic mutations in myeloproliferative neoplasms to confirm diagnosis and determine prognosis. Mutations in exon 9 and 10 are characterised by NGS.

JAK2 V617F & Exon 12 Mutation Testing

KIT D816V (Exon 17 Sequencing)

This testing is for somatic mutations in mastocytosis among other tumors and confers resistance to kinase inhibitor therapy

MPL W515 mutation and Exon 10 Sequencing

NPM1 Exon 12 (Insertion/Deletion Testing)

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.