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