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Test Identifier Information

Registration CodeMUTA 09

Patient DNA is analysed using an Ampliseq-for-Illumina next generation sequencing (NGS) custom panel on an Illumina MiSeq instrument. The panel targets the following genes that have been implicated in hereditary periodic fever syndromes: MEFV (NM_000243.2), MVK (NM_000431.4), TNFRSF1A (NM_001065.3) and NLRP3 (NM_004895.4).

Diagnostic Use / Indications
Periodic fever syndromes refer to diseases that cause periodic (episodic) fever that do not have an infectious cause. In general, people with these syndromes are well between episodes. Many of these syndromes are hereditary and result from a genetic mutation. Familial Mediterranean fever (FMF) is the most common periodic fever syndrome. Patients suffer from recurrent episodes of fever, accompanied by abdominal, chest and joint pain, and swelling. The disease generally affects people of Mediterranean and Middle Eastern descent, typically Sephardic Jews, Turks, Arabs and Armenians. The responsible gene is called the MEFV gene which encodes a protein called pyrin, which plays a role in the natural control of inflammation. NLRP3 has also been implicated in FMF.
Other periodic fevers include: 
Hyperimmunoglobulin D syndrome (HIDS), also called Mevalonate Kinase Associated Periodic Fever Syndrome, which is an autosomal recessive disorder caused by mutations in the MVK gene. The disease starts early in infancy. The most severe form of this disease starts at birth and is called mevalonic aciduria.
Tumor Necrosis Factor Receptor Associated Periodic Syndrome (TRAPS) - a genetic disease with an autosomal dominant inheritance, caused by mutations in TNFRSF1A.
Constituent TestsGenomic DNA Extraction ;
External Price$659.75(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
Additional Information
  1. This genetic test needs nucleated cells. Please don’t centrifuge or freeze the EDTA blood tube.
  2. 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 Number4569

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