Osteogenesis Imperfecta and Low Bone Density Panel, Sequencing
Ordering Recommendation
Use to confirm a clinical diagnosis of osteogenesis imperfect (OI) or monogenic cause of low bone density. Do not order to confirm a diagnosis of hypophosphatemic rickets or osteopetrosis.
Methodology
Massively Parallel Sequencing
Performed
Varies
Reported
10-15 days
New York DOH Approval Status
Specimen Required
Lavender (EDTA) or yellow (ACD solution A or B).
Transport 3 mL whole blood. (Min: 1.5 mL)
Refrigerated.
Serum or plasma, grossly hemolyzed or frozen specimens
Ambient: 72 hours; Refrigerated: 2 weeks; Frozen: Unacceptable
Reference Interval
By report
Interpretive Data
Refer to report.
This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the U.S. Food and Drug Administration. This test was performed in a CLIA-certified laboratory and is intended for clinical purposes.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
Laboratory Developed Test (LDT)
Note
ALPL, ANO5, BMP1, CASR, CLCN5, COL1A1, COL1A2, CREB3L1, CRTAP, CYP27B1, FKBP10, GORAB, IFITM5, LRP5*, P3H1, P4HB, PLOD2, PLS3, PPIB, SEC24D, SERPINF1, SERPINH1, SLC34A3, SP7, SPARC, TMEM38B, WNT1
* One or more exons are not covered by sequencing for the indicated gene; see Additional Technical Information.
Hotline History
CPT Codes
81405; 81406; 81408; 81479
Components
Component Test Code* | Component Chart Name | LOINC |
---|---|---|
3001608 | Osteogenesis Imperfecta Interp | 41103-3 |
3001683 | Osteogenesis Imperfecta Specimen | 31208-2 |
Aliases
- Bruck syndrome
- Caffey Disease
- Cole-Carpenter Syndrome
- Endosteal Hyperostosis
- Gnathodiaphyseal dysplasia
- OI
- Osteogenesis Imperfecta
- Osteoporosis
- Van Buchem Disease