Disorders

Nail-Patella Syndrome

Synonym(s): Fong Disease, Hereditary Osteo-Onychodysplasia

Gene	Locus	Protein
LMX1B	9q33.3	LIM homeobox transcription factor 1-beta

Laboratory	Test Method	Prenatal	Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
bio.logis Center for Human Genetics - Frankfurt, Germany
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany
Centogene AG, Rare Disease Company - Rostock, Germany
Cologne University, Institute of Human Genetics - Cologne, Germany
Connective Tissue Gene Tests - Allentown, PA, USA
GENETAQ, Molecular Genetics Centre - Malaga, Spain
GGA - Galil Genetic Analysis - Kazerin, Israel
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain
Liverpool Women's Hospital, Mersey Regional Molecular Genetics Laboratory - Liverpool, Great Britain	• Sequence analysis of select exons
PerkinElmer, Signature Genomic Laboratories - Spokane, WA, USA	• FISH-metaphase
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain

^* 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.