Pelizaeus-Merzbacher disease

PLP1-related disorders are X-linked hypomyelinating leukodystrophies with variable phenotype and age of onset. Genetic testing can confirm a diagnosis in affected males and help identify female carriers.


Quick Reference
Test Code: 4180 Test Name: PLP1 seq and del/dup TAT 2-4 weeks Gene: 1
Test Code: 4182 Test Name: PLP1 specific site analysis TAT 7-14 days Gene: 1

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Mutation Detection Rate

This test can detect >99.9% of described mutations in PLP1, when present (analytic sensitivity).

Test Description

Our PLP1-related disorders genetic testing includes next generation sequencing (NGS) and deletion/duplication analysis of the PLP1 gene. Genomic deoxyribonucleic acid (gDNA) is isolated from the patient’s specimen using a standardized kit and quantified. Sequence enrichment of the targeted coding exons and adjacent intronic nucleotides is carried out by a bait-capture methodology using long biotinylated oligonucleotide probes, followed by polymerase chain reaction (PCR) and NGS. 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.This assay targets all coding domains, and well into the flanking 5’ and 3’ ends of all the introns and untranslated regions. Gross deletion/duplication analysis is performed utilizing a 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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