Disorders


 

Porencephaly 2


Synonym(s): POREN2

 

OMIM

GeneLocusProtein
COL4A213q34Collagen alpha-2(IV) chain

Laboratory Test Method Prenatal Carrier *
Sheffield Children's NHS Foundation Trust, Sheffield Diagnostic Genetics Service - Sheffield, Great Britain• 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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