Table 1.

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

Gene 1MethodProportion of Probands with a Pathogenic Variant 2 Detectable by Method
LMNB1 Gene-targeted
deletion/
duplication
analysis 3, 4
1.
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.
6.

From: LMNB1-Related Autosomal Dominant Leukodystrophy

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