Disorders


 

Carpenter Syndrome 1


Synonym(s): ACPS 2, ACPS II, ACPS2, ACPSII, Acrocephalopolysyndactyly Type II, CRPT1

 

OMIM

GeneLocusProtein
RAB236p12.1Ras-related protein Rab-23

Laboratory Test Method Prenatal Carrier *
Mount Sinai School of Medicine, Mount Sinai Genetic Testing Laboratory - New York, NY, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 

* 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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