Key result
An array-based resequencing assay detected the underlying point mutation in 23 of 24 reference samples, demonstrating ≥99.9% comparability to conventional capillary sequencing.
Why the study?
Does an array-based resequencing assay accurately detect mutations in HCM-associated genes compared to conventional capillary sequencing?
Does an array-based resequencing assay accurately detect mutations in HCM-associated genes compared to conventional capillary sequencing?
An array-based resequencing assay provides a highly accurate and potentially more efficient alternative to conventional capillary sequencing for genetic testing in hypertrophic cardiomyopathy.
Answers are grounded in this paper and cite their sources.
Warrants no change in HCM genetic testing protocols; leaves open utility of array-based resequencing pending larger validation.
BACKGROUND: Dissecting the complex genetic basis of hypertrophic cardiomyopathy (HCM) may be key to both better understanding and optimally managing this most prevalent genetic cardiovascular disease. An array-based resequencing (ABR) assay was developed to facilitate genetic testing in HCM. METHODS: An Affymetrix resequencing array and a single long-range PCR protocol were developed to cover the 3 most commonly affected genes in HCM, MYH7 (myosin, heavy chain 7, cardiac muscle, beta), MYBPC3 (myosin binding protein C, cardiac), and TNNT2 [troponin T type 2 (cardiac)]. RESULTS: The assay detected the underlying point mutation in 23 of 24 reference samples and provided pointers toward identifying a G insertion and a 3-bp deletion. The comparability of array-based assay results to conventional capillary sequencing was > or =99.9%. Both techniques detected 1 heterozygous variant that was missed by the other method. CONCLUSIONS: The data provide evidence that ABR can substantially reduce the high workload previously associated with a genetic test for HCM. Therefore, the HCM array could facilitate large-scale studies aimed at broadening the understanding of the genetic and phenotypic diversity of HCM and related cardiomyopathies.
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Waldmüller et al. (2008) studied Hypertrophic cardiomyopathy (n=24). Array-based resequencing (ABR) assay vs. Conventional capillary sequencing was evaluated on Detection of underlying point mutations and comparability to conventional capillary sequencing (≥99.9% comparability). An array-based resequencing assay detected the underlying point mutation in 23 of 24 reference samples, demonstrating ≥99.9% comparability to conventional capillary sequencing.
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