Collect whole blood in a purple top (EDTA) tube.
Refrigerate sample until shipment. Send the sample at room temperature with overnight delivery for receipt Monday through Friday within 24 hours of collection.
Whole blood can be refrigerated until shipment.
Heparinized specimens, severely hemolyzed specimens, frozen, clotted or possibly commingled specimens, blood in non-sterile or leaky containers, mislabeled or inappropriately labeled specimens.
Do not heat, freeze or centrifuge blood before shipment. Refrigerate sample until shipment.
Mon - Fri 9:00am to 4:00pm
Neuroblastoma is a cancer of early childhood that arises from the developing autonomic nervous system and accounts for 15% of childhood cancer mortality. Neuroblastoma usually occurs sporadically but a subset of neuroblastoma cases are inherited in an autosomal dominant manner. Heritable mutations in the anaplastic lymphoma kinase (ALK) oncogene have been shown to be the main cause of familial neuroblastoma.
ALK maps to chromosome 2p23 and is a tyrosine kinase transmembrane receptor with homology to neutrophin receptors and the MET proto-oncogene. Germline missense mutations have been identified mostly in the tyrosine kinase domain of the ALK gene in hereditary neuroblastomas. These missense variants are predicted to be activating mutations that result in constitutive phosphorylation of the kinase domain. Somatically acquired missense mutations in the kinase domain of the ALK gene have also been identified.
Sequence analysis of the mutation previously identified in a family member will be performed.
The analytical sensitivity is close to 100% for germline point mutations by DNA sequencing.
Prenatal testing (for germline mutations) is available to individuals who are confirmed carriers of a mutation. Please contact the laboratory director to discuss appropriateness of testing prior to collecting a prenatal specimen.
Test results with interpretation will be mailed and/or faxed to the referring physician following completion of the test. Additional reports will be provided as requested.
The clinical utility of the assay is in assessing the risk to other first degree relatives by genotyping at risk family members for already identified mutations, and establishing the need for continued clinical surveillance of the patient for the purpose of early detection of tumors.
Whole blood in EDTA purple top tubes is the preferred sample. High molecular weight genomic DNA, cheek epithelial cells, or other samples containing DNA may be acceptable. Contact the laboratory for specific instructions regarding such samples before sending the sample.
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