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Test Identifier Information

 
Registration CodeMPST
Method

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 paraganglioma-pheochromocytoma syndrome: EGLN1, FH, KIF1B, MAX, MEN1, NF1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL.

Diagnostic Use / Indications

Indicated for cases with an established diagnosis to guide malignant potential and risk of recurrence.

Normally requested by a specialist endocrinologist.

Note for initial screening purposes, plasma (or urine) metanephrines preferred.

Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are characterized by paragangliomas (tumors that arise from neuroendocrine tissues distributed along the paravertebral axis from the base of the skull to the pelvis) and pheochromocytomas (paragangliomas that are confined to the adrenal medulla).
See the following link for detailed information regarding the genetics of PGL/PCC syndromes:
https://www.ncbi.nlm.nih.gov/books/NBK1548/
Constituent TestsGenomic DNA Extraction ;
External PriceContact Canterbury Health Laboratories on +64 3 364 0484 or email Labinfo.
  

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
Additional Information
  1. This test requires nucleated cells. Please do not centrifuge or freeze blood samples.
  2. 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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