Test Directory

Test Name
ABCA4 Associated Ophthalmic Conditions Genetic testing	View Test
Alpha 1 Antitrypsin Deficiency Genetic Testing	View Test
Alport Syndrome Genetic Testing	View Test
Antithrombin Deficiency Genetic testing	View Test
Bernard-Soulier Syndrome Genetic Testing	View Test
Coagulation & Fibrinolysis Genetic testing	View Test
Cognitive Conditions Genetic Testing	View Test
Combined Factor V and VIII Deficiency Genetic Testing	View Test
Common Craniosynostosis Syndromes Genetic Testing	View Test
Connective Tissue Genetic Testing	View Test
Cornelia De Lange Syndrome (Cdls) and Cdls-like Disorders Genetic Testing	View Test
Creutzfeldt-Jakob Disease (CJD) Genetic Testing	View Test
Cystic Fibrosis Genetic Testing	View Test
Dementia Genetic Testing (C9ORF72)	View Test
Dentatorubral Palliodoluysian Atrophy (DRPLA) Genetic Testing	View Test
Developmental Disorders Genetic Testing	View Test
Dilated Cardiomyopathy (DCM) Genetic Testing	View Test
Ehlers Danlos Syndrome Genetic Testing	View Test
Erythrocytosis Genetic Testing	View Test
Fabry Disease Genetic Testing	View Test
Factor II Deficiency Genetic Testing	View Test
Factor V Deficiency Genetic Testing	View Test
Factor VII Deficiency Genetic Testing	View Test
Factor X Deficiency Genetic Testing	View Test
Factor XI Deficiency Genetic Testing	View Test
Factor XIII Deficiency Genetic Testing	View Test
Familial amyloid polyneuropathy	View Test
FGFR3 Related Skeletal Dysplasia Genetic Testing	View Test
Fibrinogen Deficiency Genetic Testing	View Test
Fragile X Genetic Testing	View Test
Friedrich Ataxia (FRDA) Genetic Testing	View Test
G6PD Deficiency Genetic Testing	View Test
Glanzmann Thrombasthenia Genetic Testing	View Test
Haemoglobinopathy (Alpha And Beta Thalassaemias) Genetic Testing	View Test
Haemophilia A Genetic Testing	View Test
Haemophilia B Genetic Testing	View Test
Hereditary Ataxia Screen	View Test
Hereditary Ataxia Triplet repeat expansions	View Test
Hereditary Colorectal Cancer, HNPCC and Polyposis Genetic Testing	View Test
Hereditary Diffuse Gastric Cancer Syndrome Genetic Testing	View Test
Hereditary Haemorrhagic Telangiectasia (HHT) Genetic Testing	View Test
Hereditary Spastic Paraplegia (HSP) Genetic Testing	View Test
Huntington Disease (HD) Genetic Testing	View Test
Huntington Disease-Like Disorders Genetic Testing	View Test
Hypertrophic Cardiomyopathy (HCM) Genetic Testing	View Test
Hypophosphatasia (ALPL) Genetic Testing	View Test
Iron Regulation Genetic Testing	View Test
Juvenile Polyposis Genetic Testing	View Test
Male Infertility (CFTR) Genetic Testing	View Test
Myotonic Dystrophy Type 1 (DM1) Genetic Testing	View Test
Nail-Patella Syndrome (LMX1B) Genetic Testing	View Test
Ocular Malformations Genetic Testing	View Test
Ornithine Transcarbamulase Deficiency (OTC) Genetic Testing	View Test
Osteogenesis Imperfecta (OI) Genetic Testing	View Test
Pancreatitis (CFTR) Genetic Testing	View Test
Peutz-Jeghers Syndrome Genetic Testing	View Test
Platelet Disorders Genetic Testing	View Test
Platelet type von Willebrands (GP1BA) Genetic Testing	View Test
Primary Pulmonary Hypertension (PPH) Genetic Testing	View Test
Primordial Dwarfism, Microcephaly Genetic Testing	View Test
Protein C Deficiency Genetic Testing	View Test
Protein S Deficiency Genetic Testing	View Test
Pseudoxanthoma Elasticum (ABCC6) Genetic Testing	View Test
Rare Anaemia Genetic Testing	View Test
Rasopathy Genetic Testing	View Test
Short Stature (SHOX) Genetic Testing	View Test
Sickle Cell Anaemia Genetic Testing	View Test
Skeletal Dysplasia Genetic Testing	View Test
Spinal And Bulbar Muscular Atrophy (SBMA) Genetic Testing	View Test
Spinal Muscular Atrophy Genetic Testing	View Test
Spinocerebellar Ataxia 17 (SCA17) Genetic Testing	View Test
Spinocerebellar Ataxia 8 (SCA8) Genetic Testing	View Test
Stickler Syndrome / Cleft Palate Genetic Testing	View Test
Thrombosis Genetic Testing	View Test
Van Der Woude Syndrome (IRF6) Genetic Testing	View Test
Von Willebrand Disease (VWD) Genetic Testing	View Test