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
Bernard Soulier Full Mutation (GP1BA, GP1BB & GP9)	View Test
Bernard Soulier screen for the detection of familial mutations	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
F10 screen for detection of familial mutation (FX deficiency)	View Test
F11 full genetic screen for FXI deficiency	View Test
F11 screen for detection of familial mutation (FXI deficiency)	View Test
F13A1 and F13B full genetic screening for FXIII deficiency	View Test
F13A1 or F13B screen for detection of familial mutation (FXIII deficiency)	View Test
F5 full genetic screen for FV deficiency	View Test
F5 screen for detection of familial mutation (FV deficiency)	View Test
F7 full genetic screen for FVII deficiency	View Test
F7 screen for detection of familial mutation (FVII deficiency)	View Test
Fibrinogen full genetic screen for hypo/dis/afibrinogenaemia	View Test
Fibrinogen screen for detection of familial mutation (hypo/dis/afibrinogenaemia)	View Test
Fragile X Syndrome	View Test
Friedreichs ataxia	View Test
Full Genetic Screening of the Protein S Gene (PROS1)	View Test
GP1BA Full Mutation for Platelet-type Von Willebrand Disease	View Test
GP1BA screen for detection of familial mutation (Platelet-type Von Willebrand Disease)	View Test
Haemophilia A carrier testing	View Test
Haemophilia A or B prenatal diagnosis - contact lab for advice	View Test
Haemophilia B carrier testing	View Test
Haemophilia B full genetic screen	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
ITGA2B and ITGB3 full genetic screening for Glanzmann thrombaesthenia	View Test
ITGA2B or ITGB3 screen for detection of familial mutation (Glanzmann thrombaesthenia)	View Test
LMAN1 and MCFD2 full genetic screen for combined factor V and VIII deficiency	View Test
LMAN1 or MCFD2 screen for detection of familial mutation (Combined FV and FVIII deficiency)	View Test
MYH9 gene screen for inherited macrothrombocytopenia	View Test
MYH9 screen for detection of familial mutation (Macrothrombocytopenia)	View Test
Myotonic Dystrophy	View Test
Ornithine Transcarbamylase Deficiency (OTC)	View Test
Protein C deficiency full genetic screen (PROC)	View Test
Protein C deficiency screen for detection of familial mutation (PROC)	View Test
Protein S Gene Screen for Detection of Familial Mutation (PROS1)	View Test
RAS / MAPK pathway developmental syndromes	View Test
Spinal Muscular Atrophy	View Test
Stargardt disease (ABCA4 gene sequencing)	View Test
VWF full genetic screen for VWD	View Test
VWF screen for detection of familial mutation	View Test
XLSBMA / Kennedy disease	View Test