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HelpTest ID: OIBFG Osteogenesis Imperfecta and Bone Fragility Gene Panel, Varies
Ordering Guidance
Customization of this panel and single gene analysis for any gene present on this panel are available. For more information see CGPH/ Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies.
Targeted testing for familial variants (also called site-specific or known mutations testing) is available for the genes on this panel. See FMTT / Familial Variant, Targeted Testing, Varies. To obtain more information about this testing option, call 800-533-1710.
Additional Testing Requirements
All prenatal specimens must be accompanied by a maternal blood specimen; order MATCC / Maternal Cell Contamination, Molecular Analysis, Varies on the maternal specimen as this must be a different order number than the prenatal specimen.
Shipping Instructions
Specimen preferred to arrive within 96 hours of collection.
Necessary Information
Prior Authorization is available, but not required, for this test. If proceeding with the prior authorization process, submit the required form with the specimen.
Specimen Required
Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. For instructions for testing patients who have received a bone marrow transplant, call 800-533-1710.
Submit only 1 of the following specimens:
Specimen Type: Whole blood
Container/Tube:
Preferred: Lavender top (EDTA) or yellow top (ACD)
Acceptable: Any anticoagulant
Specimen Volume: 3 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send whole blood specimen in original tube. Do not aliquot.
Specimen Stability Information: Ambient (preferred)/Refrigerated
Prenatal Specimens
Due to its complexity, consultation with the laboratory is required for all prenatal testing; call 800-533-1710 to speak to a genetic counselor.
Specimen Type: Amniotic fluid
Container/Tube: Amniotic fluid container
Specimen Volume: 20 mL
Specimen Stability Information: Refrigerated (preferred)/Ambient
Additional information:
1. A separate culture charge will be assessed under CULAF / Culture for Genetic Testing, Amniotic Fluid.
2. All prenatal specimens must be accompanied by a maternal blood specimen; order MATCC / Maternal Cell Contamination, Molecular Analysis, Varies on the maternal specimen.
Specimen Type: Chorionic villi
Container/Tube: 15-mL tube containing 15 mL of transport media
Specimen Volume: 20 mg
Specimen Stability Information: Refrigerated
Additional Information:
1. A separate culture charge will be assessed under CULFB / Fibroblast Culture for Molecular Testing, Chorionic Villi/Products of Conception.
2. All prenatal specimens must be accompanied by a maternal blood specimen; order MATCC / Maternal Cell Contamination, Molecular Analysis, Varies on the maternal specimen.
Acceptable:
Specimen Type: Confluent cultured cells
Container/Tube: T-25 flask
Specimen Volume: 2 Flasks
Collection Instructions: Submit confluent cultured cells from another laboratory.
Specimen Stability Information: Ambient (preferred)/Refrigerated
Additional Information: All prenatal specimens must be accompanied by a maternal blood specimen; order MATCC / Maternal Cell Contamination, Molecular Analysis, Varies on the maternal specimen.
Forms
1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing (Spanish) (T826)
2. Connective Tissue/Cerebrovascular Disease Genetic Testing Patient Information
4. If not ordering electronically, complete, print, and send a Cardiovascular Test Request (T724) with the specimen.
Useful For
Providing a genetic evaluation for patients with a personal or family history suggestive osteogenesis imperfecta and other hereditary conditions associated with bone fragility
Genetics Test Information
This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 25 genes associated with osteogenesis imperfecta (OI) and other hereditary conditions associated with bone fragility: ALPL, ANO5, BMP1, COL1A1, COL1A2, CREB3L1, CRTAP, FKBP10, IFITM5, LRP5, MBTPS2, P3H1, P4HB, PLOD2, PLS3, PPIB, SEC24D, SERPINF1, SERPINH1, SP7, SPARC, TAPT1, TMEM38B, WNT1, and XYLT2. See Targeted Genes and Methodology Details for Osteogenesis Imperfecta and Bone Fragility Gene Panel and Method Description for additional details.
Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for OI and other hereditary conditions associated with bone fragility.
Prior Authorization is available for this assay.
Reflex Tests
| Test ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| CULFB | Fibroblast Culture for Genetic Test | Yes | No |
| CULAF | Amniotic Fluid Culture/Genetic Test | Yes | No |
| MATCC | Maternal Cell Contamination, B | Yes | No |
Testing Algorithm
For prenatal specimens only:
-If amniotic fluid (nonconfluent cultured cells) is received, amniotic fluid culture will be added at an additional charge.
-If chorionic villus specimen (nonconfluent cultured cells) is received, fibroblast culture will be added at an additional charge.
For any prenatal specimen that is received, maternal cell contamination testing will be performed at an additional charge.
Method Name
Sequence Capture and Targeted Next-Generation Sequencing followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing
Reporting Name
OI and Bone Fragility Gene PanelSpecimen Type
VariesSpecimen Minimum Volume
Blood: 1 mL; Other specimen types: See Specimen Required
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Varies | ||
Clinical Information
Osteogenesis imperfecta (OI) is a hereditary skeletal dysplasia syndrome characterized primarily by bone fragility and skeletal deformities, with other possible features including dental abnormalities, hearing loss, and blue/gray sclera.(1,2) Historically, OI was classified into  subtypes based on clinical presentation only: nondeforming with persistently blue sclera (OI type I), perinatal lethal (OI type II), progressively deforming (OI type III), moderate (OI type IV), and with calcification of the interosseous membranes and/or hypertrophic callus (OI type V). While these clinical classifications are still commonly used, it is recommended that OI subtypes are classified by genetic etiology.(3) Currently, there are approximately 20 different genetic subtypes of OI with variable modes of inheritance and pathophysiology.(1-3)
The most common genetic etiology of OI is disease-causing variants in the COL1A1 and COL1A2 genes encoding the pro alpha 1(I) and pro alpha 2(I) chains of type I procollagen, respectively. It is estimated that up to 25% of cases of OI are caused by disease-causing variants in either COL1A1 or COL1A2.(1-3) Disease-causing variants in these genes result in the inability to properly synthesize the pro alpha 1/2 molecules ultimately leading to abnormal or absent collagen I, a critical molecule for the structural integrity of bone. COL1A1/2-associated OI is inherited in an autosomal dominant manner and can result in a spectrum of disease severity, classified into OI types I-IV.(3)
Other genetic etiologies of OI are associated with genes involved in bone mineralization, collagen modification, collagen processing, collagen cross-linking, and osteoblast differentiation and function.(3) The majority of these less common genetic OI subtypes are inherited in an autosomal recessive manner, with the exception of autosomal dominant IFITM5-associated OI (also known as OI type V), and X-linked recessive MBTPS2-associated OI (also known as OI type XVII).
Several genetic conditions leading to bone fragility have significant overlap with OI. Additional conditions covered by this panel include ALPL-associated hypophosphatasia, ANO5-associated gnathodiaphyseal dysplasia, FKBP10-associated Bruck syndrome, LRP5-associated osteoporosis, P4HB-associated Cole-Carpenter syndrome, PLOD2-associated Bruck syndrome, PLS3-associated X-linked osteoporosis, TAPT1-associated osteochondrodysplasia, and XYLT2-associated spondyloocular syndrome with bone fragility, cataracts and hearing defects.
Reference Values
An interpretive report will be provided.
Interpretation
All detected variants are evaluated according to American College of Medical Genetics and Genomics recommendations.(4) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.
Clinical Reference
1. Marom R, Rabenhorst BM, Morello R: Osteogenesis imperfecta: an update on clinical features and therapies. Eur J Endocrinol. 2020 Oct;183(4):R95-R106. doi:10.1530/EJE-20-0299
2. Steiner RD, Basel D: COL1A1/2 osteogenesis imperfecta. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 2005. Updated May 6, 2021. Accessed August 1, 2022. Available at www.ncbi.nlm.nih.gov/books/NBK1295/
3. Marini JC, Forlino A, Bachinger HP, et al: Osteogenesis imperfecta. Nat Rev Dis Primers. 2017 Aug 18;3:17052. doi: 10.1038/nrdp.2017.52
4. Richards S, Aziz N, Bale S, et al: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015 May;17(5):405-424
Day(s) Performed
Varies
Report Available
28 to 42 daysTest Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.CPT Code Information
81406 x2
81408 x2
81479
81479 (if appropriate for government payers)
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| OIBFG | OI and Bone Fragility Gene Panel | 51966-0 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 617408 | Test Description | 62364-5 |
| 617409 | Specimen | 31208-2 |
| 617410 | Source | 31208-2 |
| 617411 | Result Summary | 50397-9 |
| 617412 | Result | 82939-0 |
| 617413 | Interpretation | 69047-9 |
| 617414 | Additional Results | 82939-0 |
| 617415 | Resources | 99622-3 |
| 617416 | Additional Information | 48767-8 |
| 617417 | Method | 85069-3 |
| 617418 | Genes Analyzed | 48018-6 |
| 617419 | Disclaimer | 62364-5 |
| 617420 | Released By | 18771-6 |
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