Ordering Recommendation

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




Polymerase Chain Reaction/Fluorescence Monitoring


Tue, Fri


5-10 days

New York DOH Approval Status

This test is New York DOH approved.

Specimen Required

Patient Preparation

Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).

Specimen Preparation

Transport 3 mL whole blood. (Min: 1 mL)

Storage/Transport Temperature


Unacceptable Conditions

Plasma or serum. Specimens collected in sodium heparin or lithium heparin tubes. Frozen specimens in glass collection tubes.


Ambient: 72 hours; Refrigerated: 1 week; 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 Category

Laboratory Developed Test (LDT)


Hotline History


CPT Codes



Component Test Code* Component Chart Name LOINC
2013746 NEB-Related Nemaline Myopathy, Specimen
2013747 NEB-Related Nemaline Myopathy, Allele 1
2013748 NEB-Related Nemaline Myopathy, Allele 2
2013749 NEB-Related Nemaline Myopathy, Interp
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.


NEB-Related Nemaline Myopathy, 1 Variant