1. SECTIONS:
2. preface & acknowledgements
3. genetics at a glance
4. contacts, support & testing
5. testing & pregnancy
6. newborn screening
7. cancer in the family
8. cardiovascular conditions
9. chromosomal conditions
10. clotting & bleeding conditions
11. cystic fibrosis
12. diabetes
13. fragile X syndrome and other causes of developmental delay
14. haemoglobinopathies
15. hereditary haemochromatosis
16. neurofibromatosis
17. neurological conditions
18. psychiatric conditions
19. genetics in practice
20. emerging genetic technologies
21. glossary

Management

1. Early detection of vestibular schwannomas is associated with better outcome.
   
2. The diagnosis is confirmed by a thorough clinical evaluation and specialised testing such as magnetic resonance imaging (MRI).
   
3. Vestibular schwannomas are surgically removed when possible. The surgical procedure that is performed is based upon the size and precise location of the tumours.
   
4. Radiation therapy may be considered for those who are not candidates for surgery.
   
5. Tumour surveillance in carriers for an NF2 mutation, affected individuals and at-risk individuals.

 

Implications for other family members

1. Testing for the NF2 mutation in asymptomatic family members can identify those who may be at risk of developing tumours and would benefit from regular screening.
2. If a relative is found not to have inherited the family NF2 mutation then no further screening is necessary.
   The emotional and financial costs can therefore be avoided.

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