INDICATION-SPECIFIC GENE PANEL TESTING
- This panel includes both full sequencing and high resolution deletion/duplication analysis.
- Detection ability 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.
DISORDERS INCLUDED IN THIS PANEL:
INDICATIONS FOR TESTING:
- Facial features such as proptosis (bulging eyes), ptosis, widely spaced eyes, flattened midface, temporal bossing
- Syndactyly, clinodactyly, broad toes, broad thumbs
- Short stature or shortened long bones
- Palatal abnormalities (cleft or high palate)
- Bone fusions, especially carpal, tarsal, and radioulnar synostosis
- Developmental delay, hearing loss, or vision concerns in a person suspected to have craniosynostosis or skeletal dysplasia
OUR LABORATORY'S RECOMMENDED TESTING STRATEGY
Comprehensive Testing: Connective Tissue Disorders
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: Chromosomal Disorders in 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: Postnatal Test Request Form
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
- 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: