Test Directory

Cone-rod and cone dystrophy (34 Genes)

Congenital ichthyosis (16 Genes)

Congenital insensitivity to pain (10 Genes)

Congenital myasthenic syndrome

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)

Ashkenazi (18 Gene)

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.