Disorders

VLDLR-Associated Cerebellar Hypoplasia

Synonym(s): Dysequilibrium Syndrome-VLDLR, Hutterite Ataxia, CAMRQ1, Cerebellar Ataxia, Mental Retardation and Dysequilibrium Syndrome 1

GeneReview OMIM

Gene	Locus	Protein
VLDLR	9p24	Very low-density lipoprotein receptor

Laboratory	Test Method	Prenatal	Carrier *
Alberta Children's Hospital, Molecular Diagnostic Laboratory - Calgary, Canada	• Sequence analysis of the entire coding region • Targeted mutation analysis
University Clinic Freiburg, Institute for Human Genetics - Freiburg, Germany	• Sequence analysis of the entire coding region
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA	• Sequence analysis of the entire coding region • 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.