Item Details
Gene/Locus name Mitochondrial_DNA What are gene names?
Long Nameno HGNC name
Edit date 12:48 PM, 04 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 No Reference Sequence for this gene.
Application Variations in this gene/locus can be associated with following disorder/s:

KEARNS-SAYRE SYNDROME, OMIM 530000
OPHTHALMOPLEGIA, PIGMENTARY DEGENERATION OF RETINA, AND CARDIOMYOPATHY, OMIM 530000
OCULOCRANIOSOMATIC SYNDROME, OMIM 530000
OPHTHALMOPLEGIA-PLUS SYNDROME, OMIM 530000
MITOCHONDRIAL CYTOPATHY, OMIM 530000
OPHTHALMOPLEGIA, PROGRESSIVE EXTERNAL, WITH RAGGED-RED FIBERS, OMIM 530000
CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MYOPATHY, OMIM 530000
CPEO WITH MYOPATHY, OMIM 530000
CPEO WITH RAGGED-RED FIBERS, OMIM 530000
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 1, OMIM 157640
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT, 1, OMIM 157640
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH HYPOGONADISM, INCLUDED, OMIM 157640
OCULAR MYOPATHY WITH HYPOGONADISM, INCLUDED, OMIM 157640
MYOPATHY, CATARACT, HYPOGONADISM SYNDROME, INCLUDED, OMIM 157640
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 3, OMIM 609286
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT, 3, OMIM 609286
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 4, OMIM 610131
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT, 4, OMIM 610131
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE, OMIM 258450
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE, OMIM 258450
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 2, OMIM 609283
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT, 2, OMIM 609283

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