Item Details
Gene/Locus name COL1A1 What are gene names?
Long Namecollagen, type I, alpha 1
Edit date 12:22 PM, 05 Jan 2012
MBS listing There is no Medicare rebate for testing of this gene/locus.
Laboratories Australian and New Zealand laboratories providing this test can be found by clicking here.
Method Laboratories may use a variety of methods to identify genetic variants. The sensitivity and specificity of these methods can vary, and some pathogenic variants in the gene may not be identified. The failure to identify a pathogenic variant may not necessarily mean that the gene is normal. Requestors should seek further advice from the laboratory.
Reference sequence NM_000088
Application Variations in this gene/locus can be associated with following disorder/s:

Caffey disease, OMIM 114000
Ehlers-Danlos syndrome, type I, OMIM 130000
Ehlers-Danlos syndrome, type VIIA, OMIM 130060
OI type II, OMIM 166210
OI type III, OMIM 259420
OI type IV, OMIM 166220
{Osteoporosis}, OMIM 166710
[Bone mineral density variation QTL]

Requestors should be aware that testing for inherited genetic variants often raises significant medical, ethical, psychological, and legal issues. Testing should be done in accordance with national guidelines which address clinical issues NHMRC and laboratory requirements NPAAC. Consultation with the genetics laboratory, a specialist clinician, or a clinical genetics service may be warranted.
Interpretation / Comment Laboratory methods do not necessarily identify all of the clinically significant variants in a gene. The failure to identify a variant does not necessarily mean that the gene is normal. Variants in a gene may cause more than one disease, and the identification of a clinically significant variant does not necessarily indicate the specific disease that the patient or relatives may be at risk of developing. Conversely, the disease/s associated with a gene might also be caused by mutations in other genes, and the failure to identify a clinically significant variant in one gene does not necessarily alter the clinical diagnosis or risk for relatives.
Reference OMIM 120150