Disorders


 

Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome


Synonym(s): ICF Syndrome

 

OMIM

GeneLocusProtein
DNMT3B20q11.2DNA (cytosine-5)-methyltransferase 3B

Laboratory Test Method Prenatal Carrier *
Mission Hospital, Fullerton Genetics Center - Asheville, NC, 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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