Disorders


 

Acromesomelic Dysplasia, Maroteaux Type


Synonym(s): St. Helena Dysplasia

 

OMIM

GeneLocusProtein
NPR29p21-p12Atrial natriuretic peptide receptor B

Laboratory Test Method Prenatal Carrier *
bio.logis Center for Human Genetics - Frankfurt, Germany• Sequence analysis of the entire coding region
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany• Sequence analysis of the entire coding region
Connective Tissue Gene Tests - Allentown, PA, 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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