Fibroblast Growth Factor Receptor 2 (FGFR2)-related Craniosynostosis
Beare-Stevenson syndrome with cutis gyrata
|Clinical info||Craniosynostosis is a common feature among these disorders.
Pfeiffer syndrome may also include broad and deviated great toes and thumbs and partial syndactyly.
Apert syndrome may involve syndactyly, hearing loss, hyperhidrosis and occasionally varying degrees of intellectual disability.
Crouzon syndrome includes normal intellect with dental problems and possible hearing loss.
Jackson-Weiss syndrome includes short, wide deviated great toes and foot syndactyly with normal hards and intellect.
Beare Stevenson with cutis gyrata patients will have delayed development, acanthosis nigricans of the hands, feet and genital areas along with the cutis gyrata.
|Indications||Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutation within a family to allow for prenatal diagnosis.|
|Detection||A mutation in FGFR2 will be indentified in approximately 67% of patients with Pfeiffer syndrome, >98% of patients with Apert syndrome, and >50% of patients with Crouzon syndrome.|
|Associated Tests||While most cases of Pfeiffer syndrome are caused by an FGFR2 mutation, approximately 5% of those with Pfeiffer syndrome will have a specific mutation (p.P252R) within the FGFR1 gene. If Pfeiffer syndrome is the suspected clinical diagnosis, FGFR1 testing can be performed if the FGFR2 test shows no mutation. Be sure to mark Pfeiffer syndrome on the requisition form if you want both tests to be performed.|
|Specimen Requirements||5 to 10 ml of peripheral blood collected in an EDTA (lavender top) Vacutainer tube is preferred. The minimal blood needed for reliable DNA isolation is 3 ml|
|Transport||The specimen should be kept at room temperature and delivered via overnight shipping. FedEx is preferred. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.|
|Turnaround time||2 weeks|
|Prenatal testing||Prenatal diagnosis is available if the familial mutation is known. Prenatal diagnosis can also be requested for ultrasound findings suggestive of FGFR2-related disorder. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.|
Molecular Diagnostic Lab
The Molecular Diagnostic Lab offers DNA analysis for many genetic disorders via gene sequencing, targeted mutation analysis, MLPA deletion/duplication testing, trinucleotide repeat analysis and next generation sequencing panels.