Disorders


 

Sengers Syndrome


Synonym(s): Cardiomyopathy and Cataract, Mitochondrial DNA Depletion Syndrome 10 (Cardiomyopathic Type), MTDPS10

 

OMIM

GeneLocusProtein
AGK7q34Acylglycerol kinase, mitochondrial

Laboratory Test Method Prenatal Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
  
MGZ München, Medizinisch Genetisches Zentrum Mnchen - München, Germany• Sequence analysis of the entire coding region
  
Oregon Health and Science University, Casey Eye Institute Molecular Diagnostic Laboratory - Portland, OR, 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.

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