Single gene testing is recommended when the affected individual is from a geographic or ethnic population known to have a "founder" mutation in one of the recessive genes. These populations include West Africans, Vietnamese, Burmese, Samoan and First Nation Canadians. For guidelines on the correct test to order, go to Test Guide.
For recessive forms of OI, the CDL offers both an 8 gene testing panel as well as testing for the recessive genes CRTAP, LEPRE1, PPIB, FKBP10, SERPINH1, PLOD2, SERPINF1, and SP7 on an individual basis. Individual gene prices and CPT codes are listed below.
Specimen Requirements: 5 cc of blood drawn in EDTA (lavender top tube) or DNA
| CRTAP gDNA Testing |
| CPT CODE | DESCRIPTION |
|---|
| 83898 | PCR amplification CRTAP (x7) |
| 83904 | Mutation identification by sequencing CRTAP (x8) |
| 83912 | Interpretation and Report |
| TOTAL | $433.00 |
| LEPRE1 gDNA Testing |
| CPT CODE | DESCRIPTION |
|---|
| 83898 | PCR amplification LEPRE (x9) |
| 83904 | Mutation identification by sequencing LEPRE (x16) |
| 83912 | Interpretation and Report |
| TOTAL | $639.00 |
| PPIB gDNA Testing |
| CPT CODE | DESCRIPTION |
|---|
| 83898 | PCR amplification PPIB (x5) |
| 83904 | Mutation identification by sequencing PPIB (x5) |
| 83912 | Interpretation and Report |
| TOTAL | $327.00 |
| FKBP10 gDNA testing |
| CPT CODE | DESCRIPTION |
|---|
| 83898 | PCR amplification FKBP10 (x8) |
| 83904 | Mutation identification by sequencing FKBP10 (x8) |
| 83912 | Interpretation and report, complex |
| TOTAL | $456.00 |
| SERPINH1 gDNA testing |
| CPT CODE | DESCRIPTION |
|---|
| 83898 | PCR amplification SERPINH1 (x3) |
| 83904 | Mutation identification by sequencing SERPINH1 (x3) |
| 83912 | Interpretation and report, complex |
| TOTAL | $241.00 |
| PLOD2 gDNA testing |
| CPT CODE | DESCRIPTION |
|---|
| 83898 | PCR amplification PLOD2 (x16) |
| 83904 | Mutation identification by sequencing PLOD2 (x19) |
| 83912 | Interpretation and report, complex |
| TOTAL | $860.00 |
| SERPINF1 gDNA Testing |
| CPT CODE | DESCRIPTION |
|---|
| 83898 | PCR amplification SERPINF1 (x8) |
| 83904 | Mutation identification by sequencing SERPINF1 (x8) |
| 83912 | Interpretation and Report |
| TOTAL | $296.00 |
| SP7 gDNA Testing |
| CPT CODE | DESCRIPTION |
|---|
| 83898 | PCR amplification SP7 (x4) |
| 83904 | Mutation identification by sequencing SP7 (x8) |
| 83912 | Interpretation and Report |
| TOTAL | $252.00 |
| DNA Extraction from Blood Sample |
| CPT CODE | DESCRIPTION |
|---|
| 83891 | Extraction of highly purified DNA |
| TOTAL | $50.00 |
