Craniosynostosis Comprehensive Testing
Craniosynostosis is the process of premature fusion of one or more cranial sutures that results in abnormal head shape in infants and toddlers with a frequence of 3.4 per 10,000. The impact of craniosynostosis on the skull shape depend on which cranial sutures are involved. Craniosynostosis can be isolated or part of a genetic syndrome. Many of the known craniosynostosis syndromes have overlapping physical findings, making the clinical classification of these related disorders challenging. Molecular testing of specific genes can often confirm a genetic diagnosis and may provide further assistance in distinguishing between the various craniosynostosis syndromes.
Reasons for Referral
Confirmation of the clinical diagnosis.
Identification of at-risk family members.
Testing Methods
Craniosynostosis Comprehensive Panel (FGFR1, FGFR2, FGFR3, and TWIST1)
Targeted Mutation Analysis for FGFR1 c.755C>G (p.Pro252Arg) mutation.
Targeted Mutation Analysis for FGFR3 c.749C>G (p.Pro250Arg) mutation.
Sequence analysis of FGFR2 exons 3, 5, 8, 10, 11, 14, 15, 16, and 17.
Sequence analysis of FGFR3 exon 10.
Sequence analysis of TWIST1 (entire coding region).
Apert Syndrome
Sequence analysis of FGFR2 exon 8.
Crouzon Syndrome
Sequence analysis of FGFR2 exons 3, 5, 8, 10, 11, 14, 15, 16, and 17.
Crouzon Syndrome with Acanthosis Nigricans
Sequence analysis of FGFR2 exons 3, 5, 8, 10, 11, 14, 15, 16, and 17.
Sequencing of FGFR3 exon 10.
FGFR1 Molecular Analysis
Targeted Mutation Analysis for FGFR1 c. 755C>G (p.Pro252Arg) mutation.
FGFR2 Molecular Analysis
Sequencing of FGFR2 exons 3, 5, 8, 10, 11, 14, 15, 16, and 17.
FGFR3 Molecular Analysis
Targeted Mutation Analysis for FGFR3 c.749C>G (p.Pro250Arg) mutation.
Sequence analysis of FGFR3 exon 10.
Muenke Syndrome
Targeted Mutation Analysis for FGFR3 c.749C>G (p.Pro250Arg) mutation.
Non-Syndromic Craniosynostosis
Targeted Mutation Analysis for FGFR3 c.749C>G (p.Pro250Arg) mutation.
Sequencing of FGFR2 exons 3, 5, 8, 10, 11, 14, 15, 16, and 17.
Pfeiffer Syndrome
Targeted Mutation Analysis for FGFR1 c.755C>G (p.Pro252Arg) mutation.
Sequencing of FGFR2 exons 3, 5, 8, 10, 11, 14, 15, 16, and 17.
Saethre-Chotzen Syndrome
Sequence analysis of TWIST (entire coding region)
Testing for a Known Familial Mutation in FGFR1, FGFR2, FGFR3 or TWIST genes
Please provide the known familial mutation.
Turn Around Time
Targeted Mutation Analysis: 5 days or fewer
Sequence Analysis: 10 days or fewer
Specimen Requirements and Shipping/Handling
Blood:
A single tube with 1-5 mL whole blood in EDTA (lavender top).
Shipping:
Store blood at 4°C until shipment. Ship at ambient temperature in an insulated container via overnight delivery within 96 hours of collection.
Send Specimen(s) to:
211. S Main Street
Suite AA
Orange, CA 92868
Tel: (714)288-3500
Required Forms
Test Limitations
Targeted Mutation Analysis tests only for the specified mutations. Gene Sequencing Analysis is unable to detect mutations in regions of the gene not examined, which may include promoter regions, introns, and additional exons unless otherwise specified. Sequencing may be unable to detect large deletions and/or insertions and chromosomal rearrangements. It is possible that some patients may carry a rare mutation of this nature not detected by this assay. This assay may detect polymorphisms of unknown clinical significance, which may require further studies.
CPT Codes
Please contact the laboratory for further details.