Disorders


 

Borjeson-Forssman-Lehmann Syndrome


Synonym(s): BFLS

 

OMIM

GeneLocusProtein
PHF6Xq26PHD finger protein 6

Laboratory Test Method Prenatal Carrier *
Asper Biotech Ltd., Asper Biotech - Tartu, Estonia• Targeted mutation analysis
CeGaT GmbH - Tuebingen, Germany• Sequence analysis of the entire coding region
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany• Sequence analysis of the entire coding region
Center for Human Genetics, Inc - Cambridge, MA, USA• Sequence analysis of the entire coding region
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
 
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Greenwood Genetic Center, Molecular Diagnostic Laboratory - Greenwood, SC, USA• Sequence analysis of the entire coding region
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands• 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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