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Test Code LAB1826 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 Endocrinology Metabolic Bone Clinic and/or Clinical Genetics.

Clinical System Name

COL1A1/2 Genomic Sequencing

Synonyms

Osteogenesis Imperfecta

Description

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.

 

Molecular Genetic Testing for Osteogenesis Imperfecta (OI)

Sample Requirements

Preferred Specimen: Whole Blood

Container(s): Lavender Top/EDTA

Preferred Vol: 5.0 - 10.0 mL

Minimum Vol: 3.0 mL, 2.0 mL (infants)

 

Alternative Specimen: DNA

Container(s): Sterile plastic tube

Preferred Vol: 5 µg DNA at a minimum concentration of ≥200 ng/µl

 

Alternative Specimen (e.g. salvia or buccal): Alternate Specimen Collection Kits for Genetic Testing

Processing Instructions

Reject due to:

Spin: N

Aliquot: N

Temp: 2 - 4 C

Storage location:

 

Off-site collection: Send whole blood refrigerated.

Stability

Specimen Type Temperature Time
Whole Blood Room temp 3 d
Whole Blood Refrigerated 5 - 7 d
Whole Blood Frozen Unacceptable
Extracted DNA Room Temp 3 - 4 d
Extracted DNA Refrigerated 1 y
Extracted DNA Frozen Indefinitely

Availability

STAT TAT
N 4 - 6 w

Performing Laboratory

Collagen Diagnostic Laboratory (CDL)/Center For Precision Diagnostics (CPDx)

1959 NE Pacific St., HSC H-561
Seattle, WA 98195
 

Main Phone Number: (206) 543-0459

Genetic Counselor: (206) 543-5464

Fax: (206) 616-1899

Department

Department: Send Outs/Genetic

Phone Number: (206) 987-2563

Reference Range

Interpretive report is provided.

Methodology

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.

Special Instructions

Links to:

UW Collagen Diagnostic Laboratory

Molecular Genetic Testing for Osteogenesis Imperfecta (OI)

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.

Send Out Instructions

Reference Test Name: COL1A1 and COL1A2 gDNA Testing
Reference Test Number: None specified
Instructions:

Ship sample overnight M - Th.

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.