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Molecular Genetics - Service Information

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Molecular Genetics Service Pack
Achondroplasia
Angelman Syndrome
Autosomal Dominant Retinitis Pigmentosa
Cardio-Facio-Cutaneous Syndrome
Catecholaminergic Polymorphic Ventricular Tachycardia
Congenital Adrenal Hyperplasia
Costello syndrome
Cystic Fibrosis
Cystic Fibrosis (rare mutations)
Doyne Honeycomb Retinal Dystrophy
Duchenne and Becker Muscular Dystrophy
Fragile X Syndrome
Gastro-intestinal Stromal Tumours
Hereditary Non Polyplosis Colon Cancer
Huntington Disease
Late Onset Retinal Dystrophy
Lowe Syndrome
Macular Dystrophy
Multiple Epiphyseal Dysplasia
Neurofibromatosis Type 2
Non invasive fetal sex determination
Norrie Disease
Prader Willi Syndrome
Pseudoachondroplasia
Rare diseases
Retinoblastoma
Shwachman-Diamond Syndrome
Sorsby Fundus Dystrophy
Steroid Resistant Nephrotic Syndrome
X-linked Hydrocephalus
X-linked Retinitis Pigmentosa
Regional Genetics Service User Guide
Quality Manual
Service Information
Request Card
Export Form
Consent Form for Huntington Disease Mutation Test