Disorders

Absence of Ulna and Fibula with Severe Limb Deficiency

Synonym(s): Al-Awadi/Raas-Rothschild Syndrome, Limb/Pelvis-Hypoplasia/Aplasia Syndrome, Schinzel Phocomelia Syndrome

OMIM

Gene	Locus	Protein
WNT7A	3p25	Protein Wnt-7a

Laboratory	Test Method	Prenatal	Carrier *
Center for Human Genetics Freiburg, Kohlhase Laboratory - Freiburg, Germany	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Centogene AG, Rare Disease Company - Rostock, Germany	• Sequence analysis of the entire coding region
GENESIS Center for Medical Genetics, Laboratory of Molecular Genetics - Poznan, Poland	• Sequence analysis of the entire coding region
Medgene, MedGene - Bratislava, Slovakia	• Sequence analysis of the entire coding region
University of Lausanne, Division of Molecular Pediatrics - Lausanne, Switzerland	• 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.