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
- Blood, DNA, DNA (Not Accepted for MLPA)
- Indications
- Diagnostics, Prenatal
- Test Methodology
- CNV, 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
Dernière Mise à Jour: 06 janvier 2026
