Craniosynostosis Molecular Analysis
| Test Information | |
|---|---|
| Test Name | Craniosynostosis Molecular Analysis |
| Lab (Location) | The Hospital for Sick Children |
| Category | Skeletal/growth |
| Subcategory | Craniosynostosis |
| Gene/Platform/Region List | FGFR1, FGFR2, FGFR3, TWIST1 |
| Test type | Gene Panel |
| Samples Accepted | Blood, DNA, DNA (Not Accepted for MLPA) |
| Indications Diagnosis | Diagnosis, Prenatal |
| Test Methodology | CNV, Sequencing |
| Methodology Notes | Gene Sequencing (Sanger - Robot); Targeted Sanger Sequencing; MLPA of FGFR2, FGFR3, TWIST1 |
| Diseases/Conditions | 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 |
| Notes | DNA not accepted for MLPA |