NEB-Related Nemaline Myopathy, 1 Variant
Also known as: NEB
Use
NEB-related nemaline myopathy typically presents with symptoms such as hypotonia, feeding difficulties, and muscle weakness within the first year of life. It mainly affects the face, neck, arms, and legs. Although muscle weakness can be static or progress slowly, this condition usually does not lead to a decreased lifespan. It is caused by pathogenic variants in the NEB gene, with an exon 55 deletion being a key variant tested, particularly in individuals of Ashkenazi Jewish descent. Carrier screening or diagnostic testing for this condition is significant for identifying risks and potential hereditary passage.
Special Instructions
Counseling and informed consent are recommended for genetic testing. Informed Consent for Genetic Testing is required for New York patients. The test is performed via PCR with fluorescence monitoring, designed and developed by ARUP Laboratories as a Laboratory Developed Test (LDT).
Limitations
This test only detects the exon 55 deletion (p.R2478_D2512del) in the NEB gene; other variants are not detected. Diagnostic errors may occur due to rare sequence variations, and analytical sensitivity and specificity of the test exceed 99%.
New York Approved
Methodology
PCR-based (PCR)
Biomarkers
Result Turnaround Time
5-10 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
1 mL
Container
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B)
Storage Instructions
Refrigerated
Causes for Rejection
Plasma or serum. Specimens collected in sodium heparin or lithium heparin tubes. Frozen specimens in glass collection tubes.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |
| Refrigerated | 1 week |
| Frozen | 1 month |