faster CMT1A Definitive Testing - Australian research

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Abstract fromG enet Test. 2003 Summer;7(2):135-8.

A Rapid and Definitive Test for Charcot-Marie-Tooth 1A and Hereditary

Neuropathy with Liability to Pressure Palsies Using Multiplexed

Real-Time PCR.

Lorentzos P, Kaiser T, Kennerson ML, Nicholson GA.

Molecular Medicine Laboratory, Clinical Sciences Building, Concord

Hospital, Concord, New South Wales, 2139, Australia.

Alterations in gene copy number have been shown to cause disease in

humans. Two of the most common inherited peripheral neuropathies,

Charcot-Marie-Tooth 1A (CMT1A) and hereditary neuropathy with liability

to pressure palsies (HNPP), are two such diseases resulting from

alteration in gene copy number of the dosage sensitive peripheral myelin

protein 22 (PMP22) gene. Many complicated and laborious diagnostic tests

exist for the diagnosis of these diseases. The aim of our study was to

develop the first quantitative multiplex real-time PCR assay for the

diagnosis of CMT1A and HNPP. A total of 160 individuals who were known

to have CMT1A, HNPP, or were normal from previous testing were assayed

by our multiplex real-time PCR method. The results

confirmed the previously determined gene copy number of all patient and

control individuals tested. The range of ratio values between the

disease and control groups were easily defined. The assay is accurate,

simple,and cost effective and can detect a 50% change in gene copy

number. This represents an ideal assay for any small diagnostic

laboratory.