Testing for Osteogenesis Imperfecta


Diagnosis for Osteogenesis imperfecta (OI) is primarily a clinical process. Because of this testing is usually done in conjunction with a clinical exam and a complete medical history conducted by a geneticist or an OI expert. Because there are different types of OI and differing degrees of severity, it cannot always be diagnosed at birth or during early infancy.

Over 800 different mutations have been identified so far as causes for OI. Gathering information about mutations is an important avenue for learning not only about causes, but also for identifying potential cures. A mutation database is maintained by the OI Database Consortium. Ideally all mutations, regardless of which lab identifies them will be reported to the database. Consumers are urged to request that the testing results be reported to the mutation database.

The OI Foundation believes that genetic counseling should always be part of the process when genetic testing for OI is done. Testing reports are often complex and results are not always clear. Counseling can come from either the laboratory that is doing the testing, or from a geneticist or genetic counselor who is familiar with OI. Families need to understand how the tests are done, what the results mean, what the tests do not indicate and what this may mean for their future.

All of these tests can miss a small percentage of unusual mutations, but should detect the most common types of collagen mutations causing OI.

Collagen Biochemical Test. This test, sometimes referred to as a “skin biopsy,” examines collagen proteins made by skin cells (fibroblasts) and requires a dermal punch biopsy sample (a small circle of skin, usually removed after application of a topical anesthetic.)

Collagen Molecular Testing. This type of test sometimes referred to as “DNA analysis” looks directly for the mutation in collagen by sequencing at the gene level. It requires either a blood sample or a skin sample.

Testing for Recessive OI. These tests look for defects in the genes controlling CRTAP or P3H1 and require a skin biopsy.

Prenatal Testing/Diagnosis. Undergoing prenatal diagnosis does not obligate parents to elect pregnancy termination, and the information obtained may be useful in managing pregnancy and delivery.
o Ultrasound identifies the more severe forms of OI such as Type II or Type III. Even with experience it can be difficult to identify the type before birth.
o Chorionic villus samping (CVS) examines placental cells. It is used to test for recurrence of OI in a family with an identified mutation.
o Amniocentesis examines fetal cells shed into the amniotic fluid. It is used to test for recurrence of OI in a family with an identified mutation.

Laboratory Information
The following laboratories currently offer testing for dominant and/or recessive forms of osteogenesis imperfecta. All of these laboratories are CLIA certified. CLIA stands for Clinical Laboratory Improvement Amendments. This law was passed in 1988 to set standards for all laboratory tests and testing facilities. See the web sites for details about services and costs.

University of Washington, Seattle, WA

Test:  Collagen testing from a skin punch biopsy
DNA sequencing for collagen
         Recessive OI Testing

Contact: Collagen Diagnostic Laboratory      
              Department of Pathology
              University of Washington     
              Room D518 Health Science Building     
              1959 NE Pacific
              Seattle, WA 98195
              Web site:

             Contact Person:  Barbara Kovacich, Patient Services Coordinator               
             Phone:  206-543-0459    
             Fax:  206-616-1899            
Estimated Costs:
             Skin biopsy $800-$1700, 6-8 week for results
             DNA    $2300, 6 months for results
             Recessive Call for information

Features: Genomic testing for children and adults
                Academic laboratory
                Provides Genetic information and support
                Explains tests and test results to patients and physicians 
                Contributes mutation information to research data base
National Institutes of Health, Bethesda, MD

Test:       Collagen testing from a skin punch biopsy 
              DNA sequencing for collagen
              Recessive OI Testing

Contact: National Institute of Child Health and Development (NICHD)
              Bone and Extracellular Matrix Branch (BEMB)
              National Institutes of Health
              Bethesda, Maryland 20892
              Web site:
              Contact Person: Mona Abukhaled, MSN, CRNP, Senior Research Assistant
              Phone: 301-496-0741
              Fax: 301-480-3188
oiprogram@mail.nih.gov or bemb@mail.mih.gov

Estimated Costs: 
               No Charge for any test 
               Skin biopsy 4 weeks for results
               DNA  3-6 months for results
               Recessive 4 weeks for results
Features:Genomic testing for children and adults
               Research laboratory
               Provides Genetic information and support
               Explains tests and test results to patients and physicians
               Contributes mutation information to research data base

Special Circumstances:

This lab accepts 2-3 cases per month on a research basis. It is especially interested in cases involving unusual genetic patterns, or involving children with severe OI. Patients are not required to participate in NIH clinical protocols to be eligible. Call for eligibility information.

Tulane University, New Orleans, LA

Test:      DNA sequencing for collagen

Contact: Matrix DNA Diagnostics Laboratory
              Tulane University Health Sciences Center
              Center for Gene Therapy
              Tidewater Building Room 2140
              1430 Tulane Avenue, TB28    
              New Orleans, LA 70112-2899     
Contact Person: Charlene Crain, MBA, BSMT, (ASCP), Laboratory Supervisor  
              Phone: 504-988-7706
              Fax: 504-988-7704
Estimated Costs:
              DNA $1800, 2-4 weeks for results  

Features:   Genomic testing for children and adults
              Academic laboratory
              Explains tests and test results to patients and physicians
              Contributes mutation information to research data base

Baylor College of Medicine, Houston, Texas

Test:       Recessive OI

Contact: Baylor Medical Genetics Laboratories
              Telephone: 1-800-411-4363
              Fax: 713-798-6584
             Web site: www.bcm.edu/geneticlabs

Features:Genomic Testing
               Academic Laboratory

Athena Diagnostics

Test:        DNA sequencing for collagen

Contact:  Athena Diagnostics, Inc.
               Four Biotech Park
               377 Plantation Street
               Worcester, MA 01605
               Web site:

               Phone: 1-800-394-4493 (option 2) or 508-756-2886
               Fax:  508-753-5601
Estimated Cost:  
              DNA  $2,765 - $4715, 3-6 weeks for results
              Some patients qualify for Patient Protection Plan which reduces the cost. See web site for details.
Features:Genomic testing for children and adults
               Commercial lab

(updated 11/29/2007)

Note: Distribution of this information by the OI Foundation does not imply endorsement of any of the laboratories mentioned. The OI Foundation does not guarantee efficacy, advisability or satisfaction with any medical services you may receive.

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