NOG (exonic and intronic splice site consensus) sequences are amplfied using specific primers and bidirectionally sequenced using a fluorescent method.
Confirmation of a diagnosis of Proximal Symphalangism (SYM1, OMIM # 185800) or Multiple Synostoses Syndrome 1 (SYNS1, OMIM #186500). NOG mutation analysis is also useful in the diagnosis of Tarsal-Carpal Coalition Syndrome (OMIM #186570), Stapes Ankylosis with broad thumbs and toes and without Symphalangism (OMIM #184460), and Brachydactyly Type B2 (BDB2, OMIM #611377).
Interpretive report provided.
This assay will not detect large deletions in the NOG gene or intronic mutations outside the region sequenced in the NOG gene; in addition, mutations in the NOG gene (other than the common large deletions analyzed) or mutations in other genes associated with the disease will not be identified.
21 - 28 days
- NOGGIN Gene Sequencing (NOG)
- NOGGIN Gene Sequencing Shadow
- NOG Gene Sequencing
- Proximal Symphalangism
- Multiple Synostoses Syndrome 1
- Tarsal-Carpal Coalition Syndrome
- Stapes Ankylosis without Symphalangism
- Berachydactyly Type B2
- Tarsal Carpal Coalition Syndrome
Collect specimen in a lavender top tube. Send intact specimen within 24 hours if stored at room temperature or within 5 days if stored refrigerated. Include the patient's family history, pedigree, and ethnicity on the test requisition. Obtaining informed consent from the patient prior to genetic testing is strongly recommended. If desired, a UMHS Request and Consent for Genetic Testing form can be obtained from the MMGL Molecular Genetics Laboratory by contacting the MLabs Client Services Center at 800-862-7284 or online at https://mlabs.umich.edu/sites/default/files/2020-01/file/pci-mmgl_infor…
By ordering this test the clinician acknowledges that informed consent has been obtained from the patient as required by applicable state or federal laws and the ordering clinician has authorization from the patient permitting MLabs to report the test results to the ordering clinician. Test includes medical geneticist interpretation of results billed as a separate additional charge. This test is not available without interpretation.