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Disorders of pain sensing

People exist who have primary disorders of generalized pain sensing.

 

Some feel no pain - and are at severe risk of self induced (when young) or
ignored (when older) injury, leading to chronic ill health and sometimes
premature demise. Others experience progressively severe paroxysm of pain for which there is little treatment.

 

These conditions can be difficult to definitively diagnose, e.g. all
investigations (such as nerve biopsy) are normal, or that the condition is
one of many complex neuropathies. In this situation gene mutation testing
can be the only, or most expedient, route to a diagnosis.

 

Currently we offer testing for the following Mendelian disorders of pain, Congenital Insensitivity to Pain (autosomal recessive) and Congenial
Erythermalgia (autosomal dominant) due to SCN9A mutations,
and the Hereditary Autonomic and Sensory Neuropathies types 4 and 5 due to NTRK1 and NGF mutations.

We are introducing testing for other primary pain genes in the future, HSN2
and IKBKAP.

 

More information:

> Cambridge Institute for Medical Research - Dr Geoff Woods

 

 

References

 

Pain, pain genetics, and 'next-generation' pain genetics. Woods CG. Dev Med Child Neurol. 2011 Jun 1. Epub ahead of print.

 

A novel NGF mutation clarifies the molecular mechanism and extends the
phenotypic spectrum of the HSAN5 neuropathy. Carvalho OP, Thornton GK,
Hertecant J, Houlden H, Nicholas AK, Cox JJ, Rielly M, Al-Gazali L, Woods
CG.J Med Genet. 2011 Feb;48(2):131-5.

 

An SCN9A channelopathy causes congenital inability to experience pain. Cox JJ, Reimann F, Nicholas AK, Thornton G, Roberts E, Springell K, Karbani G, Jafri H, Mannan J, Raashid Y, Al-Gazali L, Hamamy H, Valente EM, Gorman S, Williams R, McHale DP, Wood JN, Gribble FM, Woods CG. Nature. 2006 Dec
14;444(7121):894-8.