Nemaline Myopathy

CPT: 81400
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Test Details

Synonyms

  • Rod Myopathy

Use

Detect nemaline myopathy

Methodology

DNA analysis

Additional Information

Nemaline myopathy occurs at increased frequency in individuals of Ashkenazi Jewish descent, with a carrier frequency of 1 in 149. Nemaline myopathy is a disorder characterized by weakness and poor muscle tone. Muscle weakness is usually most severe in the face, neck flexors, and the proximal limb muscles. In the most severe form, death often occurs in the first few years of life due to respiratory failure. Couples who are planning a pregnancy or who are already pregnant may decide to have testing to find out whether they are carriers and at risk of having a baby with nemaline myopathy. Nemaline myopathy mutation analysis tests for one mutation for a 99% carrier detection rate in the Ashkenazi Jewish population.

Specimen Requirements

Specimen

Whole blood, amniotic fluid, chorionic villus sample (CVS) (Submission of maternal blood is required for fetal testing.), or LabCorp buccal swab kit (Buccal swab collection kit contains instructions for use of a buccal swab.)

Volume

7 mL whole blood, 10 mL amniotic fluid, 20 mg CVS, or LabCorp buccal swab kit

Minimum Volume

3 mL whole blood, 5 mL amniotic fluid, 10 mg CVS, or two buccal swabs

Container

Lavender-top (EDTA) tube, yellow-top (ACD) tube, sterile plastic conical tube or two confluent T-25 flasks for fetal testing, or LabCorp buccal swab kit

Storage Instructions

Maintain specimen at room temperature.

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
450040 Nemaline Myopathy 451375 Nemaline Myopathy 51969-4
450040 Nemaline Myopathy 511956 PDF Pending
450040 Nemaline Myopathy 511005 Jewish Heritage Putaway N/A

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