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Institute of Metabolic Disease at Baylor Research Institute
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DNA Analysis for Familial Hypertrophic Cardiomyopathy/Wolff-Parkinson-White syndrome by PRKAG2 Gene Sequencing
Wolff-Parkinson-White syndrome is a characterized by abnormal electrical pathways in the heart that cause a disruption of the heart's normal rhythm (arrhythmia). It is an autosomal dominant pattern of inheritance. In most cases, a person with familial Wolff-Parkinson-White syndrome has inherited the condition from an affected parent. WPW syndrome affects 1 to 3 in 1,000 people worldwide. Mutations in the PRKAG2 gene (OMIM 602743) cause Wolff-Parkinson-White syndrome.
Genetic testing for WPW syndrome is performed by screening for mutations via direct DNA sequencing.
For unknown mutations, all of PRKAG2 gene exons are amplified from patient's genomic DNA by using specific intronic primers. The corresponding PCR product templates are purified.
Bi-directional sequencing of PCR products is performed on an ABI Prism 3100 DNA Sequencer (PE Applied Biosystems).
For known PRKAG2 mutations, only the appropriate exons will be sequenced.
This test can also be utilized for analysis of the PRKAG2 R302Q (905G>A) mutation at Exon 7; R302Q is one of the most common mutations for WPW syndrome.
Download Test Requisition
Department: Molecular Diagnostics
Methodology: Polymerase Chain Reaction (PCR) to amplify all of exons of gene and direct sequencing by Applied Biosystems sequencer 3100
Sample:
• Whole Blood (preferred): 6 mL of whole blood collected in an ETDA tube or an ACD solution A tube. Minimum sample volume - 3 mL
• Dried Blood Spot Card: Optimum is 5 completely filled, saturated spots. Minimum is 3 completely filled, saturated spots.
• Fibroblasts: 2 confluent T-25 flasks
Shipping and Handling:
Ship all sample types at room temperature using a guaranteed overnight courier.
Special Notes
Contact the Molecular Diagnostics Laboratory Director prior to submitting a sample.
FOR KNOWN MUTATION ANALYSIS- indicate the mutation(s) on the test requisition; additionally, submit supporting documentation of the characterization of the mutation.
Turnaround Time: 3 - 4 weeks
Cost: Sequencing: $1,450.00
Individual mutation(s): $200.00 per mutation
CPT code: 83890, 83891 x 16, 83892, 83894 x 16, 83898 x 16, 83904 x 16, 83909 x 16, 83912
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