Disorders


 

Hypophosphatemic Rickets, Autosomal Recessive 1


Synonym(s): ARHR1

 

OMIM

GeneLocusProtein
DMP14q21Dentin matrix acidic phosphoprotein 1

Laboratory Test Method Prenatal Carrier *
Amplexa Genetics A/S, Amplexa Genetics - Odense, Denmark• Sequence analysis of the entire coding region
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, 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
GeneDx - Gaithersburg, MD, USA• Sequence analysis of the entire coding region
GENETAQ, Molecular Genetics Centre - Malaga, Spain• Sequence analysis of the entire coding region
 
GGA - Galil Genetic Analysis - Kazerin, Israel• Sequence analysis of the entire coding region
 
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel• Sequence analysis of the entire coding region
Royal Devon and Exeter Hospital, Department of Molecular Genetics - Exeter, Great Britain• 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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