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Test Code OI UM COL1A1/2 Genomic Sequencing

Important Note

This test is under utilization management. All requests for molecular genetic testing for osteogenesis imperfecta will be limited to patients who have been evaluated by the Skeletal Dysplasia Clinic staff in the outpatient clinic. 

Clinical System Name

COL1A1/2 Genomic Sequencing


Osteogenesis Imperfecta


COL1A1/2-related osteogenesis imperfecta (OI) is characterized by fractures with minimal or absent trauma, variable dentinogenesis imperfecta (DI), and, in adult years, hearing loss. The clinical features of COL1A1/2-related OI represent a continuum ranging from perinatal lethality to individuals with severe skeletal deformities, mobility impairments, and very short stature to nearly asymptomatic individuals with a mild predisposition to fractures, normal dentition, normal stature, and normal life span.


Best Practice Recommendations Osteogenesis Imperfecta (OI)

Sample Requirements

Blood is preferred


Specimen: Whole Blood

Container(s): Lavender Top/EDTA

Preferred Vol: 7 mL

Minimum Vol: 2 mL


Specimen: DNA

Container(s): Sterile plastic tube

Preferred Vol: 5ug at a concentration of at least 200ng/μl

Minimum Vol:  200 ng/µl


Specimen: Saliva

Container(s): Oragene Saliva kit- follow manufacturer's instructions

Processing Instructions

Reject due to:

Spin: N

Aliquot: N

Temp: 2-8 C

Storage location:


Off-site collection: Send whole blood refrigerated.


Specimen Type Temperature Time
Whole blood Room temp 3 d
Whole blood Refrigerated 3-5 d
Whole blood Frozen N
Extracted DNA Room temp 3-4 d
Extracted DNA Refrigerated 1 y
Extracted DNA Frozen Indefinitely



N 4-6 w


Performing Laboratory

University of Washington

Department of Laboratory Medicine

UW Collagen Diagnostic Laboratory
1959 NE Pacific St, NW220
Seattle, WA 98195

Phone Number: (206) 520-4600


Department: Send Outs


Phone Number: (206) 987-2563

Reference Range

Interpretive report is provided.


Method: Next Generation Sequencing is performed to identify nucleotide variants in the coding portion of the genome. All nucleotides in the coding exons and their flanking splice junctions are sequenced to a read coverage of greater than 20X.

Analytical Volume:


Clinical Utility

Molecular testing is diagnostic for COL1A1/2-related osteogenesis imperfecta. Sequence analysis identifies >95% of pathogenic mutations in COL1A1 and COL1A2. Deletion/duplication analysis of these two genes identifies another 1-2% of disease-causing mutations.


GeneReviews: COL1A1/2-Related Osteogenesis Imperfecta

Send Out Instructions

Reference Test Name: COL1A1/COL1A2 gDNA Testing
Reference Test Number: None specified.

Ship sample overnight (M - Th) to:

Peter H. Byers, MD
Department of Pathology
Rm. D-518, Health Science Bldg.
1959 NE Pacific Street
University of Washington
Seattle, WA 98195-7470


Whole blood may be stored up to 5-7 days in the refrigerator before shipping. Do NOT send specimens for weekend or U.S. holiday delivery.