Disorders


 

Martsolf Syndrome


 

OMIM

GeneLocusProtein
RAB3GAP21p36.13-p35.3Rab3 GTPase-activating protein non-catalytic subunit

Laboratory Test Method Prenatal Carrier *
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands• Sequence analysis of the entire coding region
University Clinic Freiburg, Institute for Human Genetics - Freiburg, Germany• 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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