Craniosynostosis Molecular Analysis

Test Information

Title
Craniosynostosis Molecular Analysis
Lab
Category
Skeletal growth
Test Name (CMS Title)
Craniosynostosis
Gene/Platform/Region List
FGFR1, FGFR2, FGFR3, TWIST1
Test type
Samples Accepted
Blood, DNA, DNA (Not Accepted for MLPA)
Indications
Diagnosis
Test Methodology
Sequencing
Methodology Notes
Gene Sequencing (Sanger - Robot); Targeted Sanger Sequencing; MLPA of FGFR2, FGFR3, TWIST1
Disease/Condition
Non-syndromic Craniosynostosis, Muenke syndrome, Muenke Nonsyndromic Coronal Craniosynostosis, Pfeiffer Syndrome, Acrocephalosyndactyly, Type V, Noack syndrome, Saethre-Chotzen Syndrome, Acrocephalosyndactyly, Type III, Acrocephaly, skull asymmetry and mild syndactyly, Crouzon Syndrome, Craniofacial dysostosis, Type I, Apert Syndrome, Acrocephalosyndactyly, Type I

Last Updated: November 14, 2025

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