Disorders

PLEKHM1-Related Autosomal Recessive Osteopetrosis

Synonym(s): OPTB6, Osteopetrosis, Autosomal Recessive 6, Osteopetrosis, Autosomal Recessive, Intermediate Form

Gene	Locus	Protein
PLEKHM1	17q21.31	Pleckstrin homology domain-containing family M member 1

Laboratory	Test Method	Prenatal	Carrier *
Connective Tissue Gene Tests - Allentown, PA, USA	• Sequence analysis of the entire coding region

^* 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.