COL1A1 and COL1A2 gDNA Testing

Included Tests

COL1A1, COL1A2

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

Alternate Specimen

Blood is the Preferred Specimen
DNA:
Single Gene, +/- array (del/dup):15 µg DNA at a minimum concentration of ≥200 ng/µl
Gene panels, +/- array (del/dup): 35 µg DNA at a minimum concentration of ≥200 ng/µl
Single site (known familial mutation or variant): 5 µg DNA

SALIVA:
Oragene Saliva samples are accepted

PRENATAL:
Amniocytes or Cultured CVS Cells: Two confluent T-25 flasks of cultured amniocytes or CVS cells, well-labeled as Prenatal Sample. Please call ahead to notify the CDL that a prenatal sample will be coming.

TransportAndStorage

7 days Refrigerated before shipping

Collection Instructions

Minimum Volume

Neonatal Volumne

Reference Range:

Refer to Interpretive Results

Methodology:

• Next Generation Sequencing (NGS)

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.

CDM

00913334

CPT Coding

81408 x 2