Disorders


 

Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome


Synonym(s): IFAP Syndrome

 

OMIM

GeneLocusProtein
MBTPS2Xp22.12-p22.11Membrane-bound transcription factor site-2 protease

Laboratory Test Method Prenatal Carrier *
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
GeneDx - Gaithersburg, MD, USA• Sequence analysis of the entire coding region
Health Care Center GENOMED, Laboratory of Human Genetics - Warsaw, Poland• Sequence analysis of the entire coding region
MEDGEN, Genetic Diagnostics Laboratory - Warsaw, Poland• 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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