Disorders

ISPD-Related Muscle Diseases

Synonym(s): MDDGA7, Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A7

Gene	Locus	Protein
ISPD	7p21.2	Isoprenoid synthase domain-containing protein

Laboratory	Test Method	Prenatal	Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands
University of Iowa Hospitals and Clinics, Department of Pathology - Iowa City, IA, USA

^* 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.