Neuromuscular Disorders: Sequencing Panel

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Condition Description

The neuromuscular disorders (NMD) are a group of conditions that affect the peripheral nervous system and muscles. Primarily, they affect the ability to perform voluntary movements. They range in onset from before a child is born to much later in life with the majority beginning during infancy, childhood, or the teenage years. With many of the neuromuscular disorders overlapping in their clinical and/or pathological phenotypes, molecular testing can be necessary to pinpoint the precise disorder a patient has.

The Neuromuscular Disorders Panel includes testing for nemaline myopathy, limb girdle muscular dystrophy, Emery-Dreifuss muscular dystrophy, congenital muscular dystrophy, Zellweger syndrome spectrum, and cardiomyopathies. Individual disorders included on this panel are myoadenylate deaminase deficiency, erythrocyte AMP deaminase deficiency, myofibrillar myopathy, Duchenne/Becker muscular dystrophy, congenital disorder of glycosylation type 1a, malignant hyperthermia susceptibility, myoclonus dystonia, Marinesco-Sjogren syndrome, and distal arthrogryposis.

Note: This test does not detect the retrotransposon insertion in the 3' UTR of the FKTN gene common in some Asian populations. For patients with suspected Fukuyama congenital muscular dystrophy, testing for the FKTN insertion is recommended. Analysis for the FKTN insertion is available as a separate assay.

Reference: 
  • Laing (2012). Crit Rev Cl Lab Sci, 49:33-48.

Genes (46)

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Indications

This test is indicated for:
  • Confirmation of a clinical diagnosis of neuromuscular disorders.

Methodology

Next Generation Sequencing: In-solution hybridization of all coding exons is performed on the patient's genomic DNA. Although some deep intronic regions may also be analyzed, this assay is not meant to interrogate most promoter regions, deep intronic regions, or other regulatory elements, and does not detect single or multi-exon deletions or duplications. Direct sequencing of the captured regions is performed using next generation sequencing. The patient's gene sequences are then compared to a standard reference sequence. Potentially causative variants and areas of low coverage are Sanger-sequenced. Sequence variations are classified as pathogenic, likely pathogenic, benign, likely benign, or variants of unknown significance. Variants of unknown significance may require further studies of the patient and/or family members.

Detection

Next Generation Sequencing: Clinical Sensitivity: Unknown. Mutations in the promoter region, some mutations in the introns and other regulatory element mutations cannot be detected by this analysis. Large deletions/duplications will not be detected by this analysis. Results of molecular analysis should be interpreted in the context of the patient's clinical/biochemical phenotype.

Analytical Sensitivity: ~99%.

Specimen Requirements

Submit only 1 of the following specimen types

Type: Whole Blood

Specimen Requirements:

In EDTA (purple top) tube:
Infants (<2 years): 2-3 ml
Children (>2 years): 3-5 ml
Older Children & Adults: 5-10 ml.

Specimen Collection and Shipping: Ship sample at room temperature with overnight delivery.

Type: Isolated DNA

Specimen Requirements:

In microtainer: 60 ug

Isolation using the QiagenTM Puregene kit for DNA extraction is recommended.

Specimen Collection and Shipping: Refrigerate until time of shipment in 100 ng/ul of TE buffer. Ship sample at room temperature with overnight delivery.

  • Single-gene testing is available for most genes on this panel.
  • Limb-Girdle Muscular Dystrophy: Sequencing Panel.
  • Congenital Muscular Dystrophy: Sequencing Panel.
  • Bethlem Myopathy/Ullrich Congenital Muscular Dystrophy Panel.
  • Expanded Neuromuscular: Sequencing Panel.
  • Neuromuscular Disorders: Deletion/Duplication Panel.

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