COL1A1 and COL1A2 gDNA Testing

Last Modified: 7/13/2016 4:11:34 PM

Client Notes:

Clinical information outlining the indication for the requested tests and pertinent medical history and family history is a necessary component of testing. Please include a clinic note when available.

Disease Osteogenesis Imperfecta Orders Must include the pecific Genes looking for (See Washington Lab Website for more information)

Specimen Requirements: 5.0 mL Whole Blood in two (2)  Lavender Top Tubes - EDTA 

Adults: 5-10cc
Children: 3-5cc
Infants: 2-3cc
Minimum Volume:
Transport & Storage: Temperature/Stability: 7 days Refrigerated before shipping
Reference Range: Refer to Interpretive Results
Methodology: Next Generation Sequencing
Documentation: Next generation DNA 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.  The sequence data are assembled and compared to the published genomic reference sequence.  Sanger sequencing is performed if necessary to ensure complete nucleotide coverage of the target sequence and to confirm all reported variants.  Human Genome Variation Society (HGVS) recommendations are followed for variant nomenclature and ACMGG/AMP variant interpretation guidelines are followed to assess variant pathogenicity, unless otherwise indicated.  The following online databases and in silico analysis tools are routinely used for variant investigation: ClinVar, NHLBI Exome Sequencing Project, 1000 Genomes, dbSNP, Exome Aggregation Consortium (ExAC), available loci specific variant databases, PolyPhen-2, SIFT, Provean, Mutation Taster and Human Splicing Finder.
Custom Panel: No


Turn Around Time: 3 to 4 weeks
Days Performed: Monday, Tuesday, Wednesday, Thursday
Sites Performed: University of Washington
Other Testing Facility: Collagen Diagnostic Lab of the Univ. of Washington
PHL Test Code: MSOT
EPIC Test Code:
Send Out Test Code: COL1A1 and COL1A2 Genes
Alternate Test Names: COL1A1 and COL1A2 ; COL1A1 and COL1A2 Genomic Sequencing testing for O; Disease Osteogenesis Imperfecta Orders Must have a; OI
Included Tests: COL1A1, COL1A2
CPT Coding: 81408 x 2

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