21 - 28 days
NOGGIN Gene Sequencing (NOG)
NOGGIN Gene Sequencing Shadow
NOG Gene Sequencing
Multiple Synostoses Syndrome 1
Tarsal-Carpal Coalition Syndrome
Stapes Ankylosis without Symphalangism
Berachydactyly Type B2
Tarsal Carpal Coalition Syndrome
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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.
* Reference ranges may change over time. Please refer to the original patient report when evaluating results.
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…