Craniosynostosis Panel

CRANIOSYNOSTOSIS- FULL PANEL: (FGFR1, 2, 3, and TWIST gene)

Several distinct syndromes, including Crouzon, Apert, Pfeiffer, Jackson-Weiss Syndrome, and nonsyndromic craniosynostosis may be caused by mutations within the Fibroblast Growth Factor Receptor gene family (FGFR 1, 2, and 3). Saethre-Chotzen syndrome is a craniosynostosis condition that is caused by mutations in the TWIST gene. These diseases represent the bulk of genetic conditions causing 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 Panel combines the individual tests for the FGFR 1, 2 and 3 craniosynostosis disorders along with examination of the TWIST gene. For further details of each condition, please refer to the individual tests.

REASONS FOR REFERRAL:

To determine whether one of these syndromes is responsible for abnormalities of the skull or eyes.
To discriminate between syndromes with overlapping clinical symptoms in an affected individual.
To establish whether 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.

TESTING METHODOLOGY:

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

SPECIMEN REQUIREMENTS:

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.

A Molecular Genetics Laboratory Test Requisition must accompany the specimen. Contact the Molecular Laboratory at 918-502-1721 to obtain further information.

TURNAROUND TIME: 15 working days

CPT CODES: