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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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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Fragile X Syndrome |
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Friedreichs ataxia |
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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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Myotonic Dystrophy |
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Ornithine Transcarbamylase Deficiency (OTC) |
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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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XLSBMA / Kennedy disease |
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