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Prior Authorization Required*
*If prior authorization is not submitted, test may be delayed.
Test Overview
Test Methodology

NOG (exonic and intronic splice site consensus) sequences are amplfied using specific primers and bidirectionally sequenced using a fluorescent method.

Test Usage

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).

Reference Range *

Interpretive report provided.

* Reference ranges may change over time. Please refer to the original patient report when evaluating results.

Test Limitations

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.

Test Details
Days Set Up
Monday - Friday
Analytic Time

21 - 28 days

Soft Order Code
MiChart Code
NOGGIN Gene Sequencing
  • NOGS
  • 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
MMGL Molecular Genetics
Specimen Requirements
Collection Instructions

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

Normal Volume
5 - 10 mL EDTA whole blood
Minimum Volume
2 mL EDTA whole blood
Additional Information

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.

CPT Code
Fee Code
Pro Fee CPT