Table 1. [Molecular Genetic Testing Used in Feingold Syndrome 1 (FS1)]. - GeneReviews® - NCBI Bookshelf

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Table 1.

Molecular Genetic Testing Used in Feingold Syndrome 1 (FS1)

Gene ¹	Method	Proportion of Probands with a Pathogenic Variant ² Detectable by Method
MYCN	Sequence analysis ³	59% ⁴
	Gene-targeted deletion/duplication analysis ⁵	9% ⁶
	Chromosomal microarray (CMA) ⁷	See footnote 8.

1.: See Table A. Genes and Databases for chromosome locus and protein.
2.: See Molecular Genetics for information on variants detected in this gene.
3.: Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.
4.: van Bokhoven et al [2005], Blaumeiser et al [2008], Marcelis et al [2008], Cognet et al [2011]
5.: Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include a range of techniques such as quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene-targeted microarray designed to detect single-exon deletions or duplications. Gene-targeted deletion/duplication testing will detect deletions ranging from a single exon to the whole gene; however, breakpoints of large deletions and/or deletion of adjacent genes (e.g., those described by van Bokhoven et al [2005], Blaumeiser et al [2008], Marcelis et al [2008], and Cognet et al [2011]) may not be detected by these methods.
6.: van Bokhoven et al [2005], Marcelis et al [2008], Cognet et al [2011]
7.: Chromosomal microarray analysis (CMA) uses oligonucleotide or SNP arrays to detect genome-wide large deletions/duplications (including MYCN) that cannot be detected by sequence analysis. The ability to determine the size of the deletion/duplication depends on the type of microarray used and the density of probes in the 2p24.3 region. CMA designs in current clinical use target the 2p24.3 region. Deletions reported in van Bokhoven et al [2005], Blaumeiser et al [2008], Marcelis et al [2008], and Cognet et al [2011] would be detected by CMA.
8.: Larger deletions of MYCN and adjacent genes detected by CMA associated with features of FS1 with additional clinical findings are not included in this table (see Genetically Related Disorders).

From: Feingold Syndrome 1

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