Comprehensive Muscular Dystrophy/Myopathy (NGS Panel and Copy Number Analysis + mtDNA)

Room Temp whole blood, oral swab, extracted DNA (from blood, oral swab, or muscle only) OR frozen muscle tissue

Whole blood: 4 ml
Oral swab: 3 swabs
Muscle:  75 milligrams
Extracted DNA: Contact MNG Genetic Services 844-664-8378 (844-MNGTEST)

Whole blood: 2 ml
Oral swab: 1 swab
Muscle:  50 milligrams
Extracted DNA: Contact MNG Genetic Services 844-664-8378 (844-MNGTEST)

Whole blood: Lavender-top (EDTA) 
Oral swab: OCD-100 DNA Genotek
Muscle:  Sterile screw capped vial
Extracted DNA: Contact MNG Genetic Services 844-664-8378 (844-MNGTEST)

Whole blood: standard phlebotomy. 
Oral swab: follow kit instructions
Muscle:  Snap freeze in liquid nitrogen and maintain at -80°C
Extracted DNA: Contact MNG Genetic Services 844-664-8378 (844-MNGTEST)

Maintain whole blood and oral swab specimens at room temperature or refrigerate at 4°C. Do not freeze.  Muscle specimen: maintain frozen and ship on dry ice.

• Room temperature: Whole blood: 14 days; Swab: 60 days; Muscle:  0 days
• Refrigerated: Whole blood: 30 days; Swab: 60 days; Muscle: 0 days
• Frozen: Muscle: 15 years

Hemolyzed, quantity not sufficient for analysis, improper container, improper storage temperature

Congenital myopathies and congenital muscular dystrophies (CMDs) are a clinically and genetically heterogeneous group of disorders, characterized by hypotonia and poor reflexes at birth or in the first years of life. They were traditionally classified by clinical phenotypes, histopathology, and creatine kinase levels. Currently molecular diagnosis is used to distinguish the subtypes. Variable age of onset and disease severity is observed between the congenital myopathies and CMDs. The congenital myopathies are clinically defined by stable or slowly progressive muscle weakness and hypotonia that typically occurs within the first year after birth, that may be accompanied by delayed motor milestones and breathing difficulties. Variable underlying histologic features have been noted for the congenital myopathies, but histopathology is likely to include structural changes without the dystrophic features seen in muscular dystrophies. The CMDs are subdivided into categories by protein function or gene: merosin deficiency (LAMA2), Ullrich congenital muscular dystrophy (COL6A1/2/3), rigid spine syndrome (SEPN1), LMNA-related CMD, and alpha-dystroglycanopathy (FKTN, FKRP). The CMDs with normal intellectual development are often caused by genetic defects of the extracellular matrix proteins (LAMA2, COL6A1/2/3) or the endoplasmic reticulum (SEPN1). Most congenital muscular dystrophies are inherited in an autosomal recessive manner but some subtypes are inherited in an autosomal dominant manner. Congenital myopathies are inherited in autosomal recessive and autosomal dominant manners. Many of the genes involved encode proteins that are critical components of the extracellular matrix, nuclear envelope, or endoplasmic reticulum. Several others are involved in the processes of glycosylation or ubiquitin-mediated degradation. Current evaluation and distinction between these disorders relies primarily on molecular testing to identify a specific subtype that can further guide management and treatment.

This assay will not consistently detect mosaicism or rule out the presence of large chromosomal aberrations, including rearrangements and inversions that do not change copy number of genomic regions. This NGS assay does not detect repeat expansions. False positive or false negative results may occur for reasons that include insufficient information available about rare genetic variants, sex chromosome abnormalities, pseudogene interference, homologous regions, blood transfusions, bone marrow transplantation, somatic or tissue-specific mosaicism/heteroplasmy, mislabeled samples, or erroneous representation of family relationships. For panels with mitochondrial DNA assessment, low levels of heteroplasmy may not be reliably detected. Interpretation of the clinical significance of gene variations is limited by information about the variant that is available at the time of reporting, and by the quality and quantity of clinical information provided with the sample. The interpretation of the clinical significance of variants may change.

This test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the Food and Drug Administration.

Next generation sequencing to identify single nucleotide variants (SNVs), insertions, deletions, and copy number variants (CNVs).  For the mitochondrial genome, next generation sequencing of long range PCR products. 

SINGLE Blood Genetic Testing, Buccal Swab Genetic Testing