Clinical genetics is a Speciality of Medicine that studies the possible Genetic Factors influencing the occurrence of a disease condition.

A Clinical Geneticist commonly treats the following conditions:

Chromosomal Diseases: Down Syndrome; Digeorge Syndrome; Turner Syndrome; William Syndrome; Other Newly Diagnosed Deletion and Duplication on Array Comparative Genomic Hybridization(CGH); Single Gene Disorders: Fragile X Syndrome; Neurofibromatosis; Haemophilia; Huntington Disease; Marfan Syndrome; Noonan Syndrome; Rett Syndrome; Epigenetic Abnormalities: Angelman Syndrome; Beckwith-Wiedemann Syndrome; Prader-Willi Syndrome; Uniparental Disomy; Multiple Malformations of Unknown Cause; Nonspecific Mental Retardation; Mitochondrial Disorders; Skeletal Dysplasia; Connective Tissue Disorders; Hereditary Breast Cancer

Karyotyping; Fluorescence In Situ Hybridization (FISH); Chromosome Painting; Array Comparative Genomic Hybridization (CGH); DNA Sequencing; DNA Methylation Analysis; Southern Blotting; Quantitative Amino Acid Analysis; Urine Organic Acid Analysis; White Cell Enzyme Analysis; Mass Spectrometry for Amino Acids and Acylcarnitines

Bone Marrow Transplantation; Enzyme Replacement Therapy; Gene Therapy