Disorders


 

CHRND-Related Multiple Pterygium Syndrome, Lethal Type


 

OMIM

GeneLocusProtein
CHRND2q37.1Acetylcholine receptor subunit delta

Laboratory Test Method Prenatal Carrier *
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, 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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