Genetic Test Details
Craniosynostosis Molecular Analysis
Test Information
- Titre
- Craniosynostosis Molecular Analysis
- Catégorie
- Skeletal\Growth
- Sub Category
- Craniosynostosis
- Gene/Platform/Region List
- FGFR1, FGFR2, FGFR3, TWIST1
- Test type
- Gene Panel
- Samples Accepted
- DNA , Blood , DNA (Not Accepted for MLPA)
- Indications
- Diagnosis , Prenatal
- Test Methodology
- Sequencing , CNV
- 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
Dernière Mise à Jour: 18 juin 2025