Osteogenesis Imperfecta Panel

INDICATION-SPECIFIC GENE PANEL TESTING

OI_panel

 

Osteogenesis Imperfecta (OI) Panel

 

 

 

 

DETECTION ABILITIES:

  • 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: 

  • Osteogenesis imperfect subtypes I – XV
  • Osteogenesis imperfecta with congenital joint contractures (Bruck syndrome 2)
  • Hypophosphatasia

INDICATIONS FOR TESTING:

  • Fractures
  • 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

Next Generation Sequencing

  • Next generation sequencing (NGS) analyzes multiple genes at once, making this a cost-effective method of testing genes known to be associated with these indications rather than Sanger sequencing one gene at a time.

Targeted Deletion/Duplication Testing

  • If gene sequencing is normal, Deletion/Duplication Analysis is performed to identify partial or whole gene deletions and duplications, another potential cause of developmental disabilities, autism, or congenital anomalies.

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)


SPECIMEN COLLECTION & SHIPPING

SPECIMEN REQUIREMENTS:  

  • 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.


CPT CODES:

  • 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: 


v14.1

CAP Accredited
CAP Graphic

CLIA Accredited
CMS Centers for Medicare & Medicaid Services Logo

contact us
Phone:  402-559-5070 
1-800-656-3937 x95070
Fax:  402-559-7248
humangenetics@unmc.edu

;