Nemaline Myopathy via the NEB Gene, Exons 82-105 (Triplicate Repeat Region)
Use
This test is designed for individuals who exhibit clinical or suspected symptoms of nemaline myopathy. It is particularly suited for those who have already identified a single variant in the NEB gene through whole exome sequencing or NGS panel testing and have a strong suspicions of nemaline myopathy. Additionally, it is applicable for reproductive partners of individuals carrying a known pathogenic NEB variant. The test provides vital insights that can guide diagnosis and further genetic counseling.
Special Instructions
Ensure that specimens such as blood, buccal swab, saliva, or tissue are collected as per the standard collection procedures. Refer to the order form for specific instructions regarding specimen handling and shipping. For those utilizing STAT testing options, remember that this service incurs an additional surcharge. Sign in for information on standard institutional pricing and further order options such as targeted family testing.
Limitations
This test is limited to analyzing the triplicate repeat region of the NEB gene, specifically exons 82-105. False negatives may occur if variants lie outside these regions, are undetectable by Sanger Sequencing, or arise from rare mutations not known to science. No FDA approval has been granted, though regulatory standards by CLIA and CAP are adhered to. Due to the specificity of this test, complementary testing may be required for comprehensive analysis.
New York Approved
Methodology
Sanger
Biomarkers
Result Turnaround Time
12-19 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided