Disorders


 

Majeed Syndrome


 

GeneReviewOMIM

GeneLocusProtein
LPIN218pPhosphatidate phosphatase LPIN2

Laboratory Test Method Prenatal Carrier *
CHRU Montpellier, Laboratoire des maladies rares et Auto-Inflammatoires - Montpellier, France• Mutation scanning of the entire coding region
  
Shafallah Medical Genetics Center, SMGC Laboratory - Doha, Qatar• 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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