Test Directory

Test Name
22q11 del Velocardiofacial / Di George Syndrome	View Test
Achondroplasia / Hypochondroplasia	View Test
Alpha 1 antitrypsin Genotyping	View Test
Alport syndrome gene sequencing (COL4A3, COL4A4, COL4A5)	View Test
Antithrombin deficiency full genetic screen (SERPINC1)	View Test
Cystic Fibrosis	View Test
Dentatorubral-pallidolusian atrophy (DRPLA)	View Test
Dilated cardiomyopathy (Titin gene sequencing)	View Test
Dominant Cerebellar Ataxia	View Test
F10 full genetic screen for FX deficiency	View Test
Fragile X Syndrome	View Test
Friedreichs ataxia	View Test
Hereditary Haemorrhagic Telangiectasia	View Test
Hereditary Non-Polyposis Colorectal Cancer / Lynch Syndrome	View Test
Huntington Disease	View Test
Hypertrophic / Dilated Cardiomyopathy	View Test
Hypertrophic Cardiomyopathy (extended panel)	View Test
Myotonic Dystrophy	View Test
Ornithine Transcarbamylase Deficiency (OTC)	View Test
RAS / MAPK pathway developmental syndromes	View Test
Spinal Muscular Atrophy	View Test
Stargardt disease (ABCA4 gene sequencing)	View Test
XLSBMA / Kennedy disease	View Test