Table 1. [Molecular Genetic Testing Used in LMNB1-Related Autosomal Dominant Leukodystrophy (ADLD)]. - GeneReviews® - NCBI Bookshelf

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Table 1.

Molecular Genetic Testing Used in LMNB1-Related Autosomal Dominant Leukodystrophy (ADLD)

Gene ¹	Method	Proportion of Probands with a Pathogenic Variant ² Detectable by Method
LMNB1	Gene-targeted deletion/ duplication analysis ^3, 4	LMNB1 duplication in 28/33 published families ⁵ A heterozygous deletion upstream of the LMNB1 promoter in 5/33 published families ⁶

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.: Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene-targeted microarray designed to detect single-exon deletions or duplications.
4.: To include analysis upstream of the LMNB1 promoter
5.: Padiath et al [2006], Giorgio et al [2013], Potic et al [2013], Dai et al [2017], Mezaki et al [2018], Zhang et al [2019]
6.: Giorgio et al [2015], Mezaki et al [2018], Nmezi et al [2019]

From: LMNB1-Related Autosomal Dominant Leukodystrophy

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Raininko R, Gosky M, Padiath QS. LMNB1-Related Autosomal Dominant Leukodystrophy. 2016 Jan 7 [Updated 2021 Jul 15]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Table 1. [Molecular Genetic Testing Used in LMNB1-Related Autosomal Dominant Leukodystrophy (ADLD)].
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