Collagen, Type I, Alpha 1/2 Panel by Massively Parallel Sequencing

Clinical Use

Use

COL1A1/COL1A2 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 represent a continuum from perinatal lethality to nearly asymptomatic individuals. Fractures can occur in any bone, but are most common in the extremities. OI can be classified into four types providing information on prognosis and management. The condition can also arise from other genes rather than just COL1A1 and COL1A2. Ehlers-Danlos syndrome, particularly the arthrochalasia type, is closely related and shares causative variants in these genes, leading to various symptoms including skin hyperextensibility and generalized joint hypermobility.

Special Instructions

Testing is recommended for individuals with a clinical or suspected diagnosis of osteogenesis imperfecta or related connective tissue disorders, particularly those with family histories of such conditions. The test provides valuable insights into the inheritance patterns, which can assist in determining the risk for first-degree relatives of affected individuals.

Limitations

This test sequence analysis will not detect large genomic structural rearrangements, mutations within the promoter, or deep intronic regions. Variants detected through NGS will be confirmed via Sanger sequencing. Testing may not capture all potential variants depending on coverage and variant type. Variants outside the predefined coding regions may go unreported. Testing conditions and limitations should be thoroughly understood prior to ordering the panel, and discussion with a genetic counselor is recommended for interpretive insights.

Test Details