General Genetics leaflets
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> General Genetics leaflets
General Genetics leaflets
Alpha 1 Antitrypsin deficiency [pdf] 160KB
Amniocentesis and CVS - NHS screening [pdf] 2MB
Angleman Syndrome [pdf] 99KB
Chromosome inversions [pdf] 159KB
Congenital Adrenal Hyperplasia (CAH) [pdf] 347KB
Consent form for Lucina NIPT [pdf] 50KB
Cystic Fibrosis [pdf] 162KB
DNA banking [pdf] 82KB
Eye clinic (genetics) [pdf] 86KB
Fragile X syndrome [pdf] 280KB
Haemochromatosis [pdf] 286KB
Huntington Disease [pdf] 124KB
Marfan Syndrome [pdf] 159KB
Patient-information-leaflet-Lucina-NIPT [pdf] 299KB
Prader-Willi Syndrome [pdf] 87KB
Presymptomatic Genetic Testing for Huntington's Disease (HD) [pdf] 348KB
Renal genetics clinic [pdf] 87KB
Skin biopsy [pdf] 85KB
Introduction to Genetics Service
Genetics Service FAQs [pdf] 123KB
Muscular dystrophy
Duchenne Muscular Dystrophy [pdf] 186KB
Myotonic dystrophy [pdf] 165KB
Total results:
2
Spinal Muscular Atrophy (SMA)
Spinal Muscular Atrophy (A5 booklet version) [pdf] 831KB
Spinal muscular atrophy (trifold leaflet version) [pdf] 104KB
Total results:
2
Inheritance
Dominant inheritance [pdf] 112KB
Germline mosaicism [pdf] 110KB
Mosaicism [pdf] 250KB
Recessive inheritance [pdf] 213KB
Uniparental disomy (UPD) [pdf] 128KB
X-linked inheritance [pdf] 144KB
Total results:
6
Chromosome translocations
Reciprocal translocations [pdf] 346KB
Robertsonian translocations [pdf] 195KB
Total results:
2
Prenatal testing
Non-invasive prenatal diagnosis - Duchenne and Becker muscular dystrophy [pdf] 255KB
Non-invasive prenatal diagnosis - personalised testing [pdf] 171KB
Non-invasive prenatal diagnosis - spinal muscular atrophy [pdf] 185KB
Options for genetic testing during pregnancy [pdf] 339KB
Total results:
4
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