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Genetic testing for ataxia in North America.

N T Potter¹, M A Nance,

¹Neurogenetics Laboratory, Developmental and Genetic Center, The University of Tennessee Medical Center, Knoxville, TN, USA. npotter@mc.utmck.edu

Molecular Diagnosis : a Journal Devoted to the Understanding of Human Disease Through the Clinical Application of Molecular Biology

|November 7, 2000

Summary

Molecular testing for spinocerebellar ataxias (SCAs) shows high accuracy in allele sizing across North American labs. Further research is needed to correlate intermediate CAG repeat lengths with specific SCA phenotypes.

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Area of Science:

Genetics
Neurology
Molecular Diagnostics

Background:

Established the Ataxia Molecular Diagnostics Testing Group to assess molecular testing for autosomal dominant cerebellar ataxias.
Focused on spinocerebellar ataxia types 1-3, 6, 7, and dentatorubral-pallidoluysian atrophy in North America.

Purpose of the Study:

Generate quantitative proficiency and outcomes data for ataxia molecular diagnostic testing.
Evaluate the performance of North American laboratories in genetic testing for SCAs.

Main Methods:

Identified 24 North American laboratories offering ataxia gene testing.
18 laboratories participated, completing technical/clinical surveys and molecular proficiency tests.
Analyzed test volumes and proficiency testing results for allele sizing accuracy.

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Main Results:

10 of 18 labs reported test volumes, performing 2,240 tests with ~5% positive results for CAG repeat expansions.
100% of participating laboratories correctly genotyped all samples.
93% and 90% of labs accurately sized normal and expanded alleles, respectively.

Conclusions:

Proficiency testing revealed minimal inter-laboratory variation in allele sizing accuracy.
Further phenotype/genotype correlation studies are required for intermediate CAG repeat lengths in SCA-1, SCA-2, and SCA-7.