Disorders


 

Leukodystrophy, Adult-Onset, Autosomal Dominant


Synonym(s): ADLD, Multiple Sclerosis-Like Disorder, Pelizaeus-Merzbacher Disease, Autosomal Dominant or Late-Onset Type

 

OMIM

GeneLocusProtein
LMNB15q23.2Lamin-B1

Laboratory Test Method Prenatal Carrier *
Alfred I. duPont Hospital for Children, Molecular Diagnostics Lab - Wilmington, DE, USA• Deletion/duplication analysis
 
CeGaT GmbH - Tuebingen, Germany• Sequence analysis of the entire coding region
 
Centogene AG, Rare Disease Company - Rostock, Germany• Deletion/duplication analysis
 
PerkinElmer, Signature Genomic Laboratories - Spokane, WA, USA• FISH-metaphase
• FISH-interphase
 
Synlab MVZ Humane Genetik Mnchen, Labor fr Humangenetik - München, Germany• Deletion/duplication analysis
 

* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.

Loading...