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NEB-Related Nemaline Myopathy, 1 Variant
2013745
Ordering Recommendation

Carrier screening or diagnostic testing for NEB-related nemaline myopathy for individuals of Ashkenazi Jewish descent.

Mnemonic
NEB
Methodology
Polymerase Chain Reaction/Fluorescence Monitoring
Performed
Tue, Fri
Reported
5-10 days
New York DOH Approval Status
This test is New York DOH approved.
Submit With Order
ARUP Consult®
Disease Topics
Specimen Required
Patient Preparation
 
Collect
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B). 
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL) 
Storage/Transport Temperature
Refrigerated. 
Unacceptable Conditions
Plasma or serum. Specimens collected in sodium heparin or lithium heparin tubes. 
Remarks
 
Stability
Ambient: 72 hours; Refrigerated: 2 weeks; Frozen: 1 month 
Reference Interval
By report
Interpretive Data
Background Information for NEB-Related Nemaline Myopathy, 1 Variant:
Characteristics:NEB-related nemaline myopathy typically presents within the first year of life with hypotonia, feeding difficulties and muscle weakness of the face, neck, arms and legs. Muscle weakness is static or progresses very slowly, but lifespan is not usually decreased.
Incidence: 1 in 47,000 in Ashkenazi Jewish individuals.
Inheritance: Autosomal recessive.
Cause:NEB pathogenic variants.
Variant Tested: Exon 55 del (p.R2478_D2512del).
Clinical Sensitivity: 99 percent in Ashkenazi Jewish individuals; unknown in other ethnicities.
Methodology: Polymerase chain reaction (PCR) and fluorescence monitoring.
Analytical Sensitivity and Specificity: Greater than 99 percent.
Limitations: Variants other than exon 55 del will not be detected. Diagnostic errors can occur due to rare sequence variations.

Compliance Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test. However, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing. Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Components
Component Test Code*Component Chart NameLOINC
2013746NEB-Related Nemaline Myopathy, Specimen
2013747NEB-Related Nemaline Myopathy, Allele 1
2013748NEB-Related Nemaline Myopathy, Allele 2
2013749NEB-Related Nemaline Myopathy, Interp
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Aliases