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Test Identifier Information

 
Registration CodeMPST
Method

Exons 1-8 of the SDHB gene, exons 1-6 of the SDHC gene and exons 1-4 of the SDHD gene are amplified using PCR and analysed by DNA sequencing.

Diagnostic Use / Indications

SDHB, SDHC and SDHD, the three nuclear genes responsible for the hereditary PGL/PCC syndromes, encode 3 of the 4 subunits of the mitochondrial enzyme succinate dehydrogenase (SDH). The hereditary PGL/PCC syndromes caused by mutations in SDHB, SDHC and SDHD are inherited in an autosomal dominant manner. Approximately 70% of familial cases of head/neck paraganglioma are believed to be caused by germline mutations in one of these three genes. Mutations in SDHD demonstrate parent-of-origin effects and generally cause disease only when the mutation is inherited from the father. In patients with an SDHB mutation, the tumours tend to be larger, more frequently extra-adrenal, and malignant.

Constituent TestsGenomic DNA Extraction ;
External Price$0.00(Exclusive of GST)
  

Specimen Collection

 
Specimen Collection Protocols

A minimum of 0.5 mL EDTA (purple top) blood (paediatric) or 5.0 mL EDTA blood (adults).

Patient Specimen4.0mL EDTA,
Paediatric Specimen0.5 mL - 1 mL EDTA blood
Sample Delivery to LabSame day or overnight courier, ambient temperature.
  

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. For deletion/duplication analysis of this gene refer to MLPA Testing
Delphic Number Test Number7302

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