Disorders

Primary Ciliary Dyskinesia 3: DNAH5-Related Primary Ciliary Dyskinesia

Gene	Locus	Protein
DNAH5	5p15.2

Laboratory	Test Method	Prenatal	Carrier *
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany	• Linkage analysis
diagenos - Osnabrueck, Germany	• Sequence analysis of select exons
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany	• Sequence analysis of select exons
GENETAQ, Molecular Genetics Centre - Malaga, Spain	• Mutation scanning of the entire coding region
GGA - Galil Genetic Analysis - Kazerin, Israel
Hpital Trousseau - Assistance Publique des Hpitaux de Paris, U.F. de Gntique Molculaire - Paris, France	• Linkage analysis
InVitae Corporation - San Francisco, CA, USA
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain	• Sequence analysis of select exons
University Hospitals of Geneva - Genetic Medicine, Genetic Oncology - DiagMol - Geneva, Switzerland	• Sequence analysis of select exons
University of North Carolina Hospitals, Molecular Genetics - Chapel Hill, NC, USA	• Sequence analysis of select exons

^* 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.