INDICATION-SPECIFIC GENE PANEL TESTING
Osteogenesis Imperfecta (OI) Panel
- This panel includes both full sequencing andhigh 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:
- Short or average stature
- Bone deformity
- Bowing of the limbs
- Radiographic findings: wormian bones, thin cortices, under-mineralization, codfish vertebrae, beaded ribs
- Blue/grey sclera hue
- Brittle teeth (dentinogenesis imperfecta)
- Hearing loss
- Loose joints and muscle weakness
- Triangular face
- Family history of OI
OUR LABORATORY'S RECOMMENDED TESTING STRATEGY
Comprehensive Testing: Osteogenesis Imperfecta (OI)
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.
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(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: