Disorders


 

Hypomyelination and Congenital Cataract


Synonym(s): HCC, Hypomyelinating Leukodystrophy 5

 

GeneReviewOMIM

GeneLocusProtein
FAM126A7p15.3Hyccin

Laboratory Test Method Prenatal Carrier *
Alfred I. duPont Hospital for Children, Molecular Diagnostics Lab - Wilmington, DE, USA• Sequence analysis of the entire coding region
MGZ München, Medizinisch Genetisches Zentrum Mnchen - München, Germany• 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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