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.

Mnemonic

OI NGS

Methodology

Massively Parallel Sequencing

Performed

Varies

Reported

3-6 weeks

New York DOH Approval Status

Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.

Specimen Required

Patient Preparation
Collect

Lavender (EDTA) or Yellow (ACD Solution A or B).

Specimen Preparation

Transport 3 mL whole blood. (Min: 1.5 mL)

Storage/Transport Temperature

Refrigerated.

Unacceptable Conditions

Serum or plasma; grossly hemolyzed or frozen specimens

Remarks
Stability

Ambient: 72 hours; Refrigerated: 1 week; 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 US 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.

Compliance Category

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

N/A

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
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.

Aliases

  • Bruck syndrome
  • Caffey Disease
  • Cole-Carpenter Syndrome
  • Endosteal Hyperostosis
  • Gnathodiaphyseal dysplasia
  • OI
  • Osteogenesis Imperfecta
  • Osteoporosis
  • Van Buchem Disease
Osteogenesis Imperfecta and Low Bone Density Panel, Sequencing