| DNA Diagnostic Laboratory at Johns Hopkins | |
Guide to Test Panels for FGFR-Related Craniosynostosis Syndromes
Click on any syndrome name to see the fee, CPT codes and other test information.
| Syndrome |
Test
Panel [Gene; exon(s)] |
Test Sensitivity | Reference |
|
Apert Syndrome |
FGFR2; exon 7 | 99% | Wilkie et al. (1995) Nat Genet 9:101. |
| Crouzon Syndrome |
FGFR2;
exons 7 & 8 FGFR3; exon 7 |
90% | Lewanda & Jabs (2002) Craniosynostosis, In Principles and Practices of Medical Genetics, 4th edition. |
| Jackson-Weiss Syndrome |
FGFR2;
exons 7 & 8 FGFR3; exon 7 |
90% | Lewanda & Jabs (2002) Craniosynostosis, In Principles and Practices of Medical Genetics, 4th edition. |
| Pfeiffer Syndrome |
FGFR2;
exons 7 & 8 FGFR3; exon 7 FGFR1; exon 7 |
85% | Lewanda & Jabs (2002) Craniosynostosis, In Principles and Practices of Medical Genetics, 4th edition. |
| Non-Syndromic Coronal Synostosis |
FGFR2;
exons 7 & 8 FGFR3; exon 7 |
Familial: 74% | Lajeunie et al (1999) J Med Genet. 36:9. |
| Sporadic: 15% | Renier et al (2000) J Neurosurg. 92:631. | ||
| Saethre-Chotzen Syndrome |
FGFR2; exon 7 FGFR3; exon 7 TWIST; exon 1* TWIST1 deletion by MLPA |
68%
(point mutation) 7% (deletion) |
Paznekas et al (1998) Am J Hum Genet 62: 1370. |
Crouzon Syndrome with Acanthosis Nigricans |
FGFR3; exon 10 | 99% | Wilkes et al (1996) J Med Genet. 33:744. |
* There is only one coding exon in the TWIST1
gene.