MelanomaNext

MelanomaNext is a next generation sequencing panel that simultaneously analyzes 8 genes associated with increased risk for melanoma and other cancers.

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Quick Reference
Test Code: 4702 Test Name: CDKN2A specific site analysis TAT 7-14 days Gene: 1
Test Code: 4708 Test Name: CDKN2A & CDK4 seq and del/dup TAT 14-21 days Genes: 2
Test Code: 6202 Test Name: CDK4 specific site analysis TAT 7-14 days Gene: 1
Test Code: 7314 Test Name: CDKN2A deletion/duplication TAT 7-14 days Gene: 1
Test Code: 8849 Test Name: MelanomaNext TAT 14-21 days Genes: 8
Test Code: 9036 Test Name: CDK4 seq and del/dup TAT 14-21 days Gene: 1

Ordering Options

Why Is This Important?

  1. Option to modify frequency and initial age of cancer screening, as appropriate
  2. Consideration of risk-reducing measures, as appropriate 
  3. Identify at-risk family members 

When To Consider Testing

  • Multiple primary melanomas
  • Multiple close relatives* with melanoma, with or without pancreatic cancer
  • Melanoma and kidney cancer (or mesothelioma) in the same person, or close relatives*
  • A family history of a mutation in a gene that predisposes to melanoma

      * On the same side of the family

Mutation Detection Rate

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

Test Description

MelanomaNext analyzes 8 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. In addition, sequencing of the promoter region is performed for PTEN (c.-1300 to c.-745). The BRCA2 Portuguese founder mutation, c.156_157insAlu (also known as 384insAlu) is detected by NGS and confirmed by PCR and agarose gel electrophoresis. For MITF, only the status of the c.952G>A (p.E318K) alteration is analyzed and 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. Reportable small insertions and deletions, potentially homozygous variants, variants in regions complicated by pseudogene interference, and single nucleotide variant calls not satisfying 100x depth of coverage and 40% het ratio thresholds are verified by Sanger sequencing.1 Gross deletion/duplication analysis is performed for the covered exons and untranslated regions of all 7 genes (excluding MITF) using read-depth from NGS data with confirmatory multiplex ligation-dependent probe amplification (MLPA) and/or targeted chromosomal microarray.

 

1. Mu W, et al. Sanger confirmation is required to achieve optimal sensitivity and specificity in next-generation sequencing panel testing.J Mol Diagn. 2016. 18(6):923-932.

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