Disorders


 

Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like


Synonym(s): SCD-EDS

 

OMIM

GeneLocusProtein
SLC39A1311p11.2Zinc transporter ZIP13

Laboratory Test Method Prenatal Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Connective Tissue Gene Tests - Allentown, PA, USA• Sequence analysis of the entire coding region
 
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, 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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