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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, SCAN Team, and/or Clinical Genetics.

Clinical System Name

COL1A1/2 Genomic Sequencing

Synonyms

Osteogenesis Imperfecta

Description

Sequencing and deletion/duplication analysis of VOL1A1 and COL1A2 to analyze genetic causes of osteogenesis imperfecta at University of Washington Collagen Diagnostics Laboratory (UW CDL). 

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

University of Washington Collagen Diagnostic Laboratory (UW CDL)

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

Methodology

Next-generation sequencing of exons for COL1A1 and COL1A2.

Reference Range

Interpretive report is provided.

Clinical Utility

A genetic diagnosis may have implications for treatment, management, recurrence risk, and family member testing.

Resources

Reference Lab Test Page

Molecular Genetic Testing for Osteogenesis Imperfecta (OI)

GeneReviews

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.