OSTEOGENESIS IMPERFECTA TESTING ON NEW YORK STATE PATIENTS
To order osteogenesis imperfecta testing on New York state patients, a Patient Consent Form must be completed and submitted to HNL Genomics (CTGT) with the patient specimen.
Additionally, HNL Genomics' (CTGT) standard Test Requisition Form should be completed and submitted with the patient specimen.
The following panels are approved for New York State patients:
- Osteogenesis imperfecta COL1A1 & COL1A2 NGS panel
- Osteogenesis imperfecta core NGS panel
- Osteogenesis imperfecta Dominant NGS panel
- Osteogenesis imperfecta Recessive NGS panel
- Osteogenesis imperfecta Dominant & Recessive NGS panel
Additionally, the following osteogenesis imperfecta related genes are approved for single gene testing and targeted variant/known familial mutation testing:
ALPL, ANO5, BMP1, COL1A1, COL1A2, CREB3L1, CRTAP, FKBP10, IFITM5, LRP5, P3H1 (LEPRE1), P4HB, PLOD2, PLS3, PPIB, SEC24D, SERPINF1, SERPINH1, SP7, SPARC, TAPT1, TMEM38B, and WNT1
TESTING FOR ALL OTHER DISORDERS ON NEW YORK STATE PATIENTS
To perform any other test on a New York State patient, a Non-Permitted Laboratory Test Request Approval Form must be completed and submitted to the New York State Department of Health. If the request is approved, HNL Genomics (CTGT) can perform the test for that patient. Please submit a copy of the approval letter and the HNL Genomics (CTGT) standard Test Requisition Form with the patient specimen. For further information on the approval process, please see the NYS Instructions and NYS Non-Permitted Laboratory Test Request Approval Form.
NYS Instructions NYS Non-Permitted Laboratory Test Request Approval Form