Item Details
Gene/Locus name NKX2-5 (also called cardiac-specific homeo box, CSX, NK2 transcription factor related, locus 5 (Drosophila), NKX2E, CSX1, NKX2.5, NKX4-1, tinman paralog (Drosophila) ) What are gene names?
Long NameNK2 homeobox 5
Edit date 01:33 PM, 11 Oct 2016
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_004387
Application Variations in this gene/locus can be associated with following disorder/s:

Atrial septal defect 7, with or without AV conduction defect, OMIM 108900
Conotruncal heart malformations, variable, OMIM 217095
Hypoplastic left heart syndrome 2, OMIM 614435
Hypothyroidism, congenital nongoitrous, 5, OMIM 225250
Tetrology of Fallot, OMIM 187500
Ventricular septal defect 3, OMIM 614432

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 600584