Disorders


 

ISPD-Related Muscle Diseases


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

 

OMIM

GeneLocusProtein
ISPD7p21.22-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein

Laboratory Test Method Prenatal Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
  
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
  
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands• Sequence analysis of the entire coding region
University of Iowa Hospitals and Clinics, Department of Pathology - Iowa City, IA, 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.

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