General Genetics leaflets

  1. Alpha 1 Antitrypsin deficiency [pdf] 160KB 
  2. Amniocentesis and CVS - NHS screening [pdf] 2MB 
  3. Angleman Syndrome [pdf] 99KB 
  4. Chromosome inversions [pdf] 159KB 
  5. Congenital Adrenal Hyperplasia (CAH) [pdf] 347KB 
  6. Consent form for Lucina NIPT [pdf] 50KB 
  7. Cystic Fibrosis [pdf] 162KB 
  8. DNA banking [pdf] 82KB 
  9. Eye clinic (genetics) [pdf] 86KB 
  10. Fragile X syndrome [pdf] 280KB 
  11. Haemochromatosis [pdf] 286KB 
  12. Huntington Disease [pdf] 124KB 
  13. Marfan Syndrome [pdf] 159KB 
  14. Patient-information-leaflet-Lucina-NIPT [pdf] 299KB 
  15. Prader-Willi Syndrome [pdf] 87KB 
  16. Presymptomatic Genetic Testing for Huntington's Disease (HD) [pdf] 348KB 
  17. Renal genetics clinic [pdf] 87KB 
  18. Skin biopsy [pdf] 85KB 

Introduction to Genetics Service

  1. Genetics Service FAQs [pdf] 123KB 

Muscular dystrophy

  1. Duchenne Muscular Dystrophy [pdf] 186KB 
  2. Myotonic dystrophy [pdf] 165KB 
Total results: 2

Spinal Muscular Atrophy (SMA)

  1. Spinal Muscular Atrophy (A5 booklet version) [pdf] 831KB 
  2. Spinal muscular atrophy (trifold leaflet version) [pdf] 104KB 
Total results: 2

Inheritance

  1. Dominant inheritance [pdf] 112KB 
  2. Germline mosaicism [pdf] 110KB 
  3. Mosaicism [pdf] 250KB 
  4. Recessive inheritance [pdf] 213KB 
  5. Uniparental disomy (UPD) [pdf] 128KB 
  6. X-linked inheritance [pdf] 144KB 

Chromosome translocations

  1. Reciprocal translocations [pdf] 346KB 
  2. Robertsonian translocations [pdf] 195KB 
Total results: 2

Prenatal testing

  1. Non-invasive prenatal diagnosis - Duchenne and Becker muscular dystrophy [pdf] 255KB 
  2. Non-invasive prenatal diagnosis - personalised testing [pdf] 171KB 
  3. Non-invasive prenatal diagnosis - spinal muscular atrophy [pdf] 185KB 
  4. Options for genetic testing during pregnancy [pdf] 339KB 
Total results: 1