Diagnosis and Testing

Despite sometimes obvious symptoms, like the malformation of the big toe, FOP is extremely difficult to diagnose properly.

 

Due to the rarity and the lack of knowledge of FOP, 80% of FOP patients are misdiagnosed!

 

FOP is commonly misdiagnosed with...

 

1. Cancer - doctors mistake benign tumors with malignant tumors.

2. Aggressive juvenile fibromatosis - doctors mistake the appearance of benign soft tissue tumors with bone tumors.

And although rare...
 

3. Fibrous dysplasia - doctors mistake the swelling of bone tissue causes by small bone cells weakening the bone structure with benign tumors.

FOP is most often diagnosed before the age of 10. 

 

For more information regarding misdiagnosis, visit http://www.ifopa.org/what-is-fop/misdiagnosis.html.

 

Or watch this documentary about a real-life FOP diagnosis...

 

 

 

 

 

 

Testing

 

Sequence analysis of entire coding region: Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders.
Weisswasser, Sachsen, Germany

Deletion/duplication analysis: Clinical DNA Testing and DNA Banking Prevention Genetics.

Marshfield, WI, United States

 

Targeted mutation analysis: Medical Genetics Unit Genomic Systems.
Paterna, Comunidad Valenciana, Spain

 

Targeted variant analysis: Genetic Diagnostic Laboratory.
Philadelphia, Pennsylvania, United States

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The International FOP Association donates most of its funds to this laboratory.