INDICATION-SPECIFIC GENE PANEL TESTING
- This panel includes both full sequencing and high resolution deletion/duplication analysis.
- Detection abilitiy is limited to the genes specified; it does not provide whole genome analysis.
- Gene panels are a more cost-effective approach than single gene testing to confirm or establish a diagnosis.
GENES COVERED: Gene List
DISORDERS INCLUDED IN THIS PANEL:
INDICATIONS FOR TESTING:
- Early-onset cardiomyopathy
- Clinical diagnosis of Hypertrophic cardiomyopathy (HCM)
- Clinical diagnosis of Dilated cardiomyopathy (DCM) and significant cardiac conduction disease and/or family history of premature sudden death
- Multiple generations affected with cardiomyopathy, arrhythmia, and/or sudden cardiac death
- Targeted mutation analysis for a known familial mutation
OUR LABORATORY'S RECOMMENDED TESTING STRATEGY
Comprehensive Testing: Cardiomyopathy
Next Generation Sequencing Panel with reflex to Deletion/Duplication Analysis
NOTE: Each of the tests recommended for comprehensive testing can be ordered individually if the comprehensive package is not desired. For questions regarding testing strategies for your patient, please call our laboratory at 402-559-5070 and ask to speak with a laboratory genetic counselor.
Chromosomal abnormalities, including microdeletions and microduplications, are found in at least 15% of children with craniosynostosis including some children with isolated or single-suture craniosynostosis*. High Density SNP Microarray can be ordered simultaneously or in a tiered fashion to assess for these copy number changes.
*Reference Source: ARTICLE: Genetic Causes of Craniosynostosis. Pediatrics 2010.
For questions regarding the usefulness of complementary testing for your patient, please call our laboratory at 402-559-5070 and ask to speak with a laboratory genetic counselor.
REQUIRED FORMS: Cardiology Test Request Form
This test can be ordered using the Postnatal Test Request Form, but we recommend using the Cardiology form which requires patient consent to include PSEN1 and PSEN2 gene analysis; two genes known to be linked to Alzheimer's disease.
OTHER FORMS: Request for Pre-Authorization for Genetic Testing (Postnatal Diagnoses on peripheral blood)
- Blood >3 mo of age: 3-5 ml in an EDTA tube (purple top)
- Blood (newborn minimum requirement): 1 ml in an EDTA tube (purple top)
- Buccal swab*: kits available upon request
- Extracted DNA: 5 μg
*Buccal swabs may not yield an adequate amount of DNA for next generation sequencing. Please contact our laboratory before sending buccal swabs for this testing methodology.
- Next Generation Sequencing: 81407(x2)
- Targeted Deletion/Duplication Testing: 81228
PRICING: Contact the laboratory billing staff for current costs.
TURN-AROUND-TIME: Results are typically available in 2-6 weeks.
LINKS and REFERENCES: