PGLNext is a next generation sequencing panel that simultaneously analyzes 14 genes associated with an increased risk of developing paragangliomas (PGLs) and/or pheochromocytomas (PCCs).
Quick Reference
Test Code 5504
Turnaround Time (TAT) 14-21 days
Number of Genes 14


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We offer family variant testing at no additional cost

We offer family variant testing for all blood relatives of patients who undergo full single gene sequencing, multigene panel testing or exome sequencing at Ambry Genetics and are found to have a pathogenic or likely pathogenic variant. Testing must be completed within 90 days of the original report date. Whenever possible, more closely related relatives should be tested before more distant relatives. If you or a family member are interested in learning more about our family testing program or when family testing may be clinically indicated, please contact us or your provider for additional information. Note that Ambry can only provide such family testing services to patients receiving medical care in the U.S or US territories.

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When To Consider Testing

  • PGL/PCC at any age
  • Presence of PGL/PCC with a personal or family history* of kidney, thyroid, or breast cancer
  • Presence of PGL/PCC with a personal or family history* of neurofibromas, kidney, or gastrointestinal stromal tumors (GIST)

   * On the same side of the family

Mutation Detection Rate

PGLNext can detect >99.9% of described mutations in the included genes, when present (analytic sensitivity).

Test Description

PGLNext analyzes 14 genes (listed above). All genes are evaluated by next generation sequencing (NGS) or Sanger sequencing of all coding domains, and well into the flanking 5’ and 3’ ends of all the introns and untranslated regions. For EGLN1, only missense variants in the catalytic domain (codons 188-418) are routinely reported. Clinically significant intronic findings beyond 5 base pairs are always reported. Intronic variants of unknown or unlikely clinical significance are not reported beyond 5 base pairs from the splice junction. Additional Sanger sequencing is performed for any regions missing or with insufficient read depth coverage for reliable heterozygous variant detection. Potentially homozygous variants, variants in regions complicated by pseudogene interference, and variant calls not satisfying depth of coverage and variant allele frequency quality thresholds are verified by Sanger sequencing. Gross deletion/duplication analysis is performed for the covered exons and untranslated regions of all sequenced genes (excluding EGLN1) using read-depth from NGS data with confirmatory multiplex ligation-dependent probe amplification (MLPA) and/or targeted chromosomal microarray. 

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