Diagnostic Test Directory

Molecular Genetics Laboratory

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Familial Pheochromocytoma Sequence Analysis (TMEM127)

  • Synonyms: Hereditary Pheochromocytoma
  • LIS Mnemonic: MBTMEM127SEQ

    Collect

    Collect whole blood in a purple top (EDTA) tube (preferred)

    Volume Required

    5 ml whole blood or 1 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 are catecholamine-secreting tumors that usually arise within the adrenal medulla. Approximately 10% arise in extraadrenal sympathetic ganglia, and are referred to as 'paragangliomas.' susceptibility to the development of isolated pheochromocytoma can be caused by germline mutation in several genes, including VHL, RET, SDHD, and SDHB.

Molecular Genetics:

In 2010, germline mutations in the TMEM127 gene were found in about 30% of familial cases and 3% of sporadic cases (Qin et al. 2010). Missense, truncating, splice-site and indels in the TMEM127 genes have been reported in individuals with pheochromoscyotma.

Test Methods:

We offer DNA sequence analysis of the entire coding region of the TMEM127 gene. PCR amplification and sequence analysis 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. Mutations in promoters, deep intronic regions and other regulatory regions will not be identified with this assay.

Detection Rate:

Although data regarding the frequency of mutations in the TMEM127 gene is limited, germline mutations in the TMEM127 gene were found in about 30% of familial cases and 3% of sporadic cases.

Results:

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

Utility:

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

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215-590-5221