22q11 del Velocardiofacial / Di George Syndrome |
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Achondroplasia / Hypochondroplasia |
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Alpha 1 antitrypsin Genotyping |
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Alport syndrome gene sequencing (COL4A3, COL4A4, COL4A5) |
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Antithrombin deficiency full genetic screen (SERPINC1) |
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Antithrombin Deficiency screen for detection of familial mutation (SERPINC1) |
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Bernard Soulier Full Mutation (GP1BA, GP1BB & GP9) |
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Bernard Soulier screen for the detection of familial mutations |
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Cystic Fibrosis |
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Dentatorubral-pallidolusian atrophy (DRPLA) |
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Dilated cardiomyopathy (Titin gene sequencing) |
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Dominant Cerebellar Ataxia |
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F10 full genetic screen for FX deficiency |
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F10 screen for detection of familial mutation (FX deficiency) |
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F11 full genetic screen for FXI deficiency |
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F11 screen for detection of familial mutation (FXI deficiency) |
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F13A1 and F13B full genetic screening for FXIII deficiency |
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F13A1 or F13B screen for detection of familial mutation (FXIII deficiency) |
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F5 full genetic screen for FV deficiency |
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F5 screen for detection of familial mutation (FV deficiency) |
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F7 full genetic screen for FVII deficiency |
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F7 screen for detection of familial mutation (FVII deficiency) |
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Fibrinogen full genetic screen for hypo/dis/afibrinogenaemia |
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Fibrinogen screen for detection of familial mutation (hypo/dis/afibrinogenaemia) |
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Fragile X Syndrome |
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Friedreichs ataxia |
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Full Genetic Screening of the Protein S Gene (PROS1) |
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GP1BA Full Mutation for Platelet-type Von Willebrand Disease |
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GP1BA screen for detection of familial mutation (Platelet-type Von Willebrand Disease) |
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Haemophilia A carrier testing |
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Haemophilia A or B prenatal diagnosis - contact lab for advice |
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Haemophilia B carrier testing |
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Haemophilia B full genetic screen |
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Hereditary Haemorrhagic Telangiectasia |
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Hereditary Non-Polyposis Colorectal Cancer / Lynch Syndrome |
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Huntington Disease |
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Hypertrophic / Dilated Cardiomyopathy |
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Hypertrophic Cardiomyopathy (extended panel) |
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ITGA2B and ITGB3 full genetic screening for Glanzmann thrombaesthenia |
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ITGA2B or ITGB3 screen for detection of familial mutation (Glanzmann thrombaesthenia) |
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LMAN1 and MCFD2 full genetic screen for combined factor V and VIII deficiency |
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LMAN1 or MCFD2 screen for detection of familial mutation (Combined FV and FVIII deficiency) |
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MYH9 gene screen for inherited macrothrombocytopenia |
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MYH9 screen for detection of familial mutation (Macrothrombocytopenia) |
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Myotonic Dystrophy |
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Ornithine Transcarbamylase Deficiency (OTC) |
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Protein C deficiency full genetic screen (PROC) |
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Protein C deficiency screen for detection of familial mutation (PROC) |
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Protein S Gene Screen for Detection of Familial Mutation (PROS1) |
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RAS / MAPK pathway developmental syndromes |
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Spinal Muscular Atrophy |
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Stargardt disease (ABCA4 gene sequencing) |
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VWF full genetic screen for VWD |
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VWF screen for detection of familial mutation |
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XLSBMA / Kennedy disease |
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