Other diagnostic and screening tests

• Arrhythmia and cardiomyopathy
• Congenital heart disease
• Hereditary haemorrhagic telangiectasia (HHT) and vascular malformations
• Lipid disorders
• Pulmonary hypertension
• Aortopathy

• Validation of abnormal findings from newborn screening
• Aminoacidopathies
• Carbohydrate disorders
• Congenital disorders of glycosylation
• Fatty acid oxidation defects
• Lysosomal storage disorders
• Metal transport disorders
• Organic acidemias
• Urea cycle disorders
• Creatine biosynthesis and transport disorders
• Peroxisomal disorders
• Purine metabolism disorders
• Porphyrias
• Hyperphosphatemia

• Dermatology cancer syndromes
• Skin disorders

• Ciliopathies
• Kidney disorders
• Nephrolithiasis

• Neuropathies and related disorders
• Neuromuscular disorders
• Dystonias, Parkinson disease and parkinsonism
• Neurodegenerative disorders
• Neurovascular disorders
• Epilepsy seizures and developmental brain abnormalities

• Hereditary hemochromatosis
• Hereditary thrombophilia
• Anaemia
• Atypical haemolytic uremic syndrome and thrombotic microangiopathies
• Bone marrow failure syndromes

• Macular dystrophy
• Oculocutaneous albinism
• Septo-optic dysplasia
• Alport syndrome
• Stickler syndrome
• Glaucoma
• Inherited retinal disorders
• Bardet-Biedl syndrome
• Cataracts
• Early-onset glaucoma
• Diseases with anophthalmia and microphthalmia
• Oculo-fascio-cardio-dental syndrome

• Chronic pancreatitis
• Paediatric oncology
• Overgrowth syndromes
• Epilepsy seizures and developmental brain abnormalities
• Ciliopathies
• RASopathies (Noonan spectrum disorders
• Cystic fibrosis
• Developmental disorders
• Skin disorders
• Eye disorders
• Congenital heart defects
• Disorders of sex development
• Skeletal disorders
• Deafness
• Kidney disorders
• Connective tissue disorders
• Hypophosphatemia

• Dyskeratosis congenital
• Primary immunodeficiency
• Antibody deficiencies
• Autoinflammatory syndromes
• Combined Т/В cell deficiencies
• Immune dysregulation
• Phagocytic defects
• Hereditary angioedema
• Congenital diarrhoea

• Disorders of sex development
• Obesity
• Hyperparathyroidism
• Glucose metabolism
• Bone mineralisation disorders

Whole exome analysis is used to aid in the diagnosis of patients who present with a possible genetic disorder but with no clearly identified cause. In such cases, directed genetic testing is not applicable, or too many genes would need to be analysed to pinpoint the root cause of the disease. In such cases, whole exome analysis that looks into gene variants relevant to the patient’s clinical manifestations provides the most comprehensive option for identifying the possible genetic cause or causes.

Genetic disorders are caused by changes in the DNA sequence that affect a gene’s function. Most disease-causing DNA changes are found in the coding regions of our genes called exons (and all exons together are called the exome). Exons contain genetic instructions that the body uses to produce the various proteins it needs to function. In exome analysis, most exons are sequenced, but only those relevant to the patient’s medical condition will be analysed and reported.