NEB-Related Nemaline Myopathy, 1 Variant

2013745
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Additional Technical Information
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.
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: For human genetic inheritable conditions and mutations. This test was developed and its performance characteristics determined by ARUP Laboratories. The U. S. Food and Drug Administration has not approved or cleared this test; however, FDA clearance or approval is not currently required for clinical use. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Note
Hotline History
N/A
CPT Codes

81400

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Components
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.
Aliases
NEB-Related Nemaline Myopathy, 1 Variant