Gene panel: (includes 2 genes)
ALK and PHOX2B
Basic characteristics of the clinical phenotype
The majority of pediatric cancers are sporadic; however, 5%-10% are thought to be due to a hereditary predisposition. The disorders presented in this panel are usually de novo or inherited in an autosomal dominant manner, with the exception of the mosaic variegated aneuploidy syndrome (autosomal recessive).
This test examines the genes ALK and PHOX2B, which are associated with familial neuroblastoma. This condition leads to an increased risk of developing malignant or benign tumors that originate from neuroblasts. Such tumors most often develop in the adrenal gland, abdomen, chest, neck and pelvis.
Genetic testing of these genes can confirm the diagnosis and help guide treatment decisions. Identification of a disease-causing variant would also guide testing and diagnosis of at-risk relatives. This test is specifically designed for inherited germline mutations and is not suitable for detecting somatic mutations in tumor tissue.
Indications for Referral/ Clinical Significance:
Candidates for this test are all patients with multifocal, recurrent, and early-onset (before the age of 50) colorectal tumors or with a family history of colorectal carcinoma, but without evidence of the presence of relatives with FAP. Germline mutations in genes associated with Lynch syndrome are also associated with ovarian carcinoma.
This test is specifically intended for the analysis of inherited germline mutations and is not suitable for the study of somatic mutations in tumor tissue.
Method: Next-generation sequencing.
The method involves bi-directional DNA sequencing of all coding exons and intron-exon boundaries of the target genes. The laboratory offers Sanger sequencing of a single exon or a pair of exons in the patient's relatives to determine the carrier status in cases where the mutation is known (Test #182).
Sensitivity of the method: depends on GC and AT content, as well as the presence of segmentally duplicated genes.
What does the test involve?
· DNA isolation and sample storage.
· Parallel sequencing including bidirectional DNA sequencing of all coding exons and intron-exon boundaries of target genes
· Bioinformatic analysis of sequencing data. For each patient, only data for the gene(s) of interest were analyzed.
· Forming a written result of the genetic test.
· Diagnostic interpretation of results and genetic counseling.
Biological material: Venous blood or DNA
For more information, please read the "Biological material requirements and shipping information" carefully.