Diagnostic Test Directory

Molecular Genetics Laboratory

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Testing for the Noonan spectrum of disorders is now available at the Molecular Genetics Laboratory. Learn more about Noonan spectrum testing »

Hereditary Pheochromocytoma (MAX)

    Collect

    Collect whole blood in a purple top (EDTA) tube (preferred). Extracted DNA is also acceptable.

    Volume Required

    5 ml whole blood or 3 ug extracted DNA

    Minimum Required

    3 ml whole blood

    Transport

    Refrigerate sample until shipment. Send the sample at room temperature with overnight delivery for receipt Monday through Friday within 24 hours of collection.

    Stability

    Whole blood can be refrigerated until shipment.

    Unacceptable conditions

    Heparinized specimens, severely hemolyzed specimens, frozen, clotted or possibly commingled specimens, blood in non-sterile or leaky containers, mislabeled or inappropriately labeled specimens.

    Specimen Handling

    Do not heat, freeze or centrifuge blood before shipment. Refrigerate sample until shipment.

Days Performed

Mon - Fri 9:00am to 4:00pm

Reported

4-6 weeks

CPT

81479

Disease Information

Clinical Features:

Pheochromocytomas (PCC) are catecholamine-secreting tumors that usually arise within the adrenal medulla. Approximately 10% arise in extraadrenal sympathetic ganglia, and are referred to as 'paragangliomas’ (PGL). Nine known susceptibility genes for PGL and PCC have been identified (VHL, NF1, RET, SDHA, SDHB, SDHC, SDHD, TMEM127, SDHAF2)

Test Methods:

We offer DNA sequence analysis of the entire coding region. PCR amplification and sequencing is performed on all coding exons including splice junctions. The patient’s gene sequence is then compared to a reference sequence. Sequence variants are classified as mutations, variants of unknown significance or benign variants unrelated to disease. Variants of unknown significance may warrant further studies in the patient and other family members.

Detection Rate:

In 2011, germline mutations in the MAX gene were identified in several cases with pheochromocytoma and paraganglioma (Comino-Mendez et al., Nature Genet. 2011; 43: 663-667 and Burnichon et al., Clin Cancer Res. 2012; 18: 2828-2837). Missense, nonsense, splice site and indels in the MAX gene have been reported in 8% of of patients with no germline mutations in the known PCC genes, bilateral adrenal pheochromoctytoma, early age of presentation and/or a positive family history (Comino-Mendez et al. 2011). Another study in 2012 identified mutations in 1.12% of PCC and PGL patients without evidence of other known mutations (Burnichon et al., 2012).

Related Tests:

Von Hippel-Lindau (Sequence and MLPA) - VHL Multiple Endocrine Neoplasia MEN2 (Sequence) - RET Hereditary Paraganglioma/Pheochromocytoma Panel (Sequence and MLPA) - SDHB, SDHC, and SDHD Hereditary Paraganglioma/Pheochromocytoma (Sequence) - TMEM127 Hereditary Paraganglioma/Pheochromocytoma (Sequence) - SDHAF2

Results:

Test results with interpretation will be mailed and/or faxed to the referring physician or send out lab following completion of the test. Additional reports will be provided as requested.

Utility:

The clinical utility of the assay is to support a clinical diagnosis of the disease, facilitate genetic counseling, and assess the risk to other first degree relatives and to facilitate testing of at - risk family members.

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215-590-5221