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A B C D E F G H I J K L M N O P Q

Test Identifier Information

 
Registration CodeMUTA 22
Method

Exons 1 to 5 of the SOD1 gene are analysed by bidirectional automated DNA sequencing.

Diagnostic Use / Indications

Defects in SOD1 are the cause of amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]. ALS1 is a familial form of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper and lower motor neurons and resulting in fatal paralysis. Sensory abnormalities are absent. Death usually occurs within 2 to 5 years. The aetiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of cases leading to familial forms.The diagnosis of ALS is based on clinical features, EMG and exclusion of other health conditions with related symptoms. Once the diagnosis of ALS has been established in an individual testing of the SOD1 gene can be used in individuals with a positive or incomplete family history to establish a specific diagnosis. Such testing must be offered with the caveat that only 20% of individuals with familial ALS (and less with unknown family history) will have identifiable mutations, i.e. testing should be offered in the context of adequate genetic counselling.

Constituent TestsGenomic DNA Extraction ;
External Price$611.58(Exclusive of GST)
  

Specimen Collection

 
Patient Specimen4.0mL EDTA,
Paediatric Specimen0.5 mL - 1 mL EDTA blood
Sample Delivery to LabAmbient
  

CHLabs Laboratory

 
DepartmentBiochemistry - Molecular Pathology
Contact Details Email Email
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Contact Phone Number03 3640 548
Test Availability9am to 5pm, Monday to Friday
Turnaround TimeWithin 4 weeks
Uncertainty of Measurement

 Automated bidirectional DNA sequencing has an analytical sensitivity and specificity of >99%. Note that the lower limit of variant detection of sequencing analysis is ~10%, this is important to consider in the case of mosaicism, mitochondrial, and somatic variation that is not expected to be present at 50% or 100%.  This analysis will not detect variants located within intronic regions, except at the intron-exon boundaries.

Additional Information

If storing blood tube prior to delivery please refrigerate at 4 degrees (transport still at ambient temperature).

Delphic Number Test Number4583

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