• NHS: Currently, if you had or have a  relative with Familial Dysautonomia, you may be tested under  the NHS  to  see if you  are a  carrier of  FD. For further details, contact Ms. Sara Levene, Genetic Counselor at Guy’s Hospital, London SE1 Tel: 020 7188 1364. You will need to ask  your GP for a  letter of referral and  you will  be directed to an appropriate local hospital. where a blood sample will be taken. You will be supplied with the  result.
• PRIVATE: Anyone can  be  screened privately in the  UK by contacting  The Doctors Laboratory, 58 Wimpole Street, London W1. Tel: 020 7460 4800. Currently, it costs £360 to  be  screened  for Canavan, Cystic  Fibrosis, Fanconi Anaemia, Familial  Dysautonomia and Tay Sachs Disease. You will need to ask  your GP for a letter of referral. Results are supplied.
• DOR YESHORIM: If you are orthodox, unmarried, not previously tested and intend finding a spouse through a ‘shidduch’, consider prior  registration with Dor Yeshorim of New York. They offer, usually at Pesach  and Succoth, a private screening  test, at local centres in the UK, for a panel of Ashkenazi genetic diseases. Look for notices in  orthodox Jewish papers. No referral is necessary. Results are NOT supplied. Tel: 001 718 384 2332 .

In 2001, major and  minor mutations in  the IKBKAP gene, responsible  for FD, were identified. This enabled  a DNA blood test to be designed to detect carriers of FD (as well  as to open up new avenues of therapeutic treatment for sufferers).