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Test Identifier Information

Registration CodeMUTA 15

The 5’ untranslated flanking region and exon 1 of ferritin L-chain DNA is amplified by PCR and sequenced by bi-directional automated fluorescent DNA sequencing. The remaining 3 exons and flanking intronic sequences can also be analysed if clinically appropriate.

Diagnostic Use / Indications

Hereditary hyperferritinaemia cataract syndrome is an autosomal dominant disorder caused by heterogeneous mutations on the iron-responsive element of ferritin L-chain subunit mRNA. The mutations abolish or reduce affinity with iron-regulatory-proteins and this determines a constitutive up-regulation of ferritin L-chain in serum and all tissues. The high accumulation of L-ferritin in serum and tissues has no effect on body iron but the aggregation of the protein in the lens is associated with early bilateral cataract onset. Sequencing the 5’ untranslated flanking region of ferritin L-chain DNA will be able to identify the mutation.

Constituent TestsGenomic DNA Extraction ;
External Price$0.00(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
  1.  This test requires nucleated cells. Please do not centrifuge or freeze blood samples.
  2. Genomic DNA must be extracted from the specimen prior to testing. This incurs an additional charge (see GDNA). Laboratories may prefer to submit DNA for testing. Please provide a minimum of 5 micrograms of DNA at 20 nanograms/microlitre.
  3. If storing blood tube prior to delivery please refrigerate at 4 degrees (transport still at ambient temperature).










Delphic Number Test Number7312

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