Causative mutations have been identified in eight genes associated with autosomal recessive forms of Osteogenesis Imperfecta: FKBP10, CRTAP, LEPRE1, PPIB, SERPINH1, SP7/OSX, SERPINF1, and PLOD2. The CDL offers a testing panel that sequences these 8 genes simultaneously; this panel is recommended for those individuals with a clear clinical diagnosis of OI who have had normal COL1A1 and COL1A2 gene sequencing studies. Please consult our Test Guide for more information on the correct test to order.
When considering recessive forms of OI, consultation with the laboratory genetic counselors or laboratory director is recommended as clinical and family history and x-ray review may be needed.
Specimen Requirements: 5 cc of blood drawn in EDTA (lavender top tube) or DNA
| Recessive OI Panel | |
| CPT CODE | DESCRIPTION |
|---|---|
| 83898 | PCR amplification CRTAP (x7) |
| 83904 | Mutation identification by sequencing CRTAP (x8) |
| 83898 | PCR amplification LEPRE (x9) |
| 83904 | Mutation identification by sequencing LEPRE (x16) |
| 83898 | PCR amplification PPIB (x5) |
| 83904 | Mutation identification by sequencing PPIB (x5) |
| 83912 | Interpretation & Report CRTAP, LEPRE, PPIB |
| 83898 | PCR amplification FKBP10 (x8) |
| 83904 | Mutation identification by sequencing FKBP10 (x8) |
| 83912 | Interpretation & Report FKBP10 |
| 83898 | PCR amplification SERPINH1 (x3) |
| 83904 | Mutation identification by sequencing SERPINH1 (x3) |
| 83912 | Interpretation & Report SERPINH1 |
| 83898 | PCR amplification PLOD2 (x16) |
| 83904 | Mutation identification by sequencing PLOD2 (x19) |
| 83912 | Interpretation & Report PLOD2 |
| 83898 | PCR amplification SERPINF1 (x8) |
| 83904 | Mutation identification by sequencing SERPINF1 (x8) |
| 83912 | Interpretation & Report SERPINF1 |
| 83898 | PCR amplification SP7/OSX (x4) |
| 83904 | Mutation identification by sequencing SP7/OSX (x8) |
| 83912 | Interpretation & Report SP7/OSX |
| TOTAL | $2332.00 |
| DNA Extraction from Blood Sample | |
| CPT CODE | DESCRIPTION |
|---|---|
| 83891 | Extraction of highly purified DNA |
| TOTAL | $50.00 |