Tests Performed in Panel: Apert, Crouzon, Pfeiffer, Muenke, and Saethre-Chotzen Syndromes
TURNAROUND TIME: 15 days
TESTING METHODOLOGY: PCR amplification and DNA sequencing of exons 8 and 10 (7/IIIa and 9/IIIc) of the FGFR2 gene; DNA sequencing of the TWIST gene; detection of the P252R Pfeiffer mutation in FGFR1 and the P250R Muenke mutation in FGFR3 by PCR and restriction enzyme digestion.
- Collect: Prefer two 5ml whole blood EDTA (lavender top) tube.
- Min. Collection: 0.7 ml whole blood EDTA.
- Transport: blood EDTA at Room Temp shipped regular next day air (No Saturday delivery; store specimen at 4°C and ship Monday).
- Stability: Ambient: up to 7 days; Refrigerated: 2 weeks. Frozen: unacceptable
- Unacceptable Conditions: Serum. Frozen or severely hemolyzed blood. Clotted blood.
- Prenatal testing: Direct: 5ml direct unspun amniotic fluid or 15mg CVS tissue with a backup flask growing. Culture: confluent T25 flask. Maternal blood sample is required for maternal cell contamination studies.
Counseling and informed consent are recommended for genetic testing. A consent form
is available as a resource but not required.
Inheritance: Spontaneous or inherited in an autosomal dominant manner. In the inherited form, the disease is considered fully penetrant.
Disease Characteristics: Premature closure of the sutures between the bones of the skull, causing unicoronal or bicoronal craniosynostosis or cloverleaf skull. These clinical findings can usually be confirmed by skull radiograph or head CT examination. Also present are distinctive facial features and variable abnormalities of the hands and feet.
Clinical Sensitivity: please see individual test information pages for additional information
Test Limitations: Deletions of the entire gene or mutations outside the tested regions of the genes will not be detected. Rare diagnostic errors can occur due to primer / probe site mutations or rare polymorphisms.
INDICATIONS FOR USE:
- To determine the genetic basis for craniodysmorphology in an affected individual.
- The panel is designed to help discriminate between syndromes with overlapping clinical symptoms.
- Individuals at risk- (due to family history or ultrasound findings) who wish prenatal diagnosis.