Molecular Test Listing

Molecular Requisition

Several distinct syndromes, including Crouzon, Apert, Pfeiffer, Jackson-Weiss and the nonsyndromic syndromes, may be caused by different mutations within the Fibroblast Growth Factor Receptor gene family (FGFR 1, 2, and 3). These diseases represent the bulk of genetic conditions resulting in cranial dysmorphologies which are a result of premature closure of the sutures between the bones of the skull. If not surgically corrected, the brain continues to grow within the small skull causing protruding eyeballs, an altered head shape and possible brain damage.

These syndromes may be either spontaneous or  inherited in an autosomal dominant manner. In the inherited form, the disease is considered fully penetrant. Each disorder has differences in clinical symptoms but the differences are often subtle and they generally overlap. 

In order to most efficiently and economically deal with the problems in diagnosis, the Craniodysmorphology Syndromes test combines the individual tests for the FGFR 1, 2 and 3 craniosynostosis disorders. For further details of each condition, please refer to the individual tests for FGFR1, FGFR2, and FGFR3. This testing may be combined with testing for Saethre-Chotzen syndrome in the Craniodysmorphology Panel. 

• To determine whether one of these syndromes is responsible for abnormalities in the skull or eyes.
• To discriminate between syndromes with overlapping clinical symptoms in an affected individual.
• To establish whether the symptoms are spontaneous or inherited within a family.
• To evaluate the risk of having a child with one of these syndromes.
• Individuals at risk who wish prenatal diagnosis.

• For ambiguous patients, this test is often included with testing for Saethre-Chotzen syndrome.

• PCR amplification and DNA sequencing of exon 7 and 9 (IIIa and IIIc) of the FGFR2 gene, and point mutation testing of the FGFR1 and FGFR3 genes.

• Blood EDTA (purple top) tubes:  

            Newborn: minimum 1-2 mL          

            Child/Adult: prefer 2 tubes of 3-5 mL

• Prenatal testing: Please contact the laboratory for instructions.