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:
Genetics - Molecular Pathology
Same day or overnight courier, ambient temperature.
This test requires nucleated cells. Please do not centrifuge or freeze blood samples.
Ambient (8 - 24 degrees Celsius)
Please do not centrifuge or freeze blood samples.
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.
Laboratories may prefer to submit DNA for testing. Please provide a minimum of 5 micrograms of DNA at 20 nanograms/microlitre.
For deletion/duplication analysis of this gene refer to MLPA Testing