Table 1.

Molecular Genetic Testing Used in Multiple Endocrine Neoplasia Type 4

Gene 1MethodProportion of Probands with a Pathogenic Variant 2 Detectable by Method
CDKN1B Sequence analysis 3~95% 4
Gene-targeted deletion/duplication analysis 52 individuals 6
1.
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.

Data derived from the subscription-based professional view of Human Gene Mutation Database [Stenson et al 2020]

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.

6.

Grey et al [2013]; Authors, unpublished data

From: Multiple Endocrine Neoplasia Type 4

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