Berries Health Musculoskeletal Disorders (Muscular) Panel

The Musculoskeletal Disorders (Muscular) Panel examines genetic variations associated with various musculoskeletal disorders. This panel covers conditions such as limb-girdle muscular dystrophy, other types of muscular dystrophy, myopathies, rickets, chondrodysplasia, Ehlers-Danlos syndrome, Bethlem myopathy, Nemaline myopathy, osteogenesis imperfecta, and arthropathy. 

Methodology:

The test identifies inherited genetic variations (germline mutations) associated with musculoskeletal diseases. Genes serve as instructions, encoded in DNA, for producing proteins. Different individuals can possess various versions of the same gene, some of which may impact health, specifically in relation to musculoskeletal disorders. 

Several genes linked to musculoskeletal diseases have been identified. Testing for harmful (pathogenic) variants in these genes can confirm if a condition is indeed the result of an inherited syndrome. The Muscular genetic test panel analyzes a curated list of genes for potential genetic changes compared to human reference variants associated with musculoskeletal conditions. 

The Berries Health Musculoskeletal Disorders (Muscular) Panel is a Laboratory Developed Test (LDT) validated at BH lab patner, utilizing Twist Exome 2.0 and the Illumina NovaSeq6000 NGS Platform. This test has not been cleared or approved by the FDA. 

Interpreting Genetic Test Results:

• Positive Result: A positive result indicates the identification of a pathogenic variant linked to musculoskeletal diseases or related conditions. Some of these disorders are recessive—such as limb-girdle muscular dystrophy—meaning both copies of the defective gene must be present for the disease to manifest. An individual with a heterozygous pathogenic variant may be a carrier and might not show symptoms but could experience muscle weakness with intense physical activity. This insight helps patients and healthcare providers in understanding and managing treatment plans.

• Variation of Uncertain Significance (VUS): If genetic testing uncovers a change not previously associated with musculoskeletal diseases, it may be deemed a VUS. This classification indicates uncertainty and typically does not guide healthcare decisions. With ongoing research, some VUS may later be classified as benign or linked to specific disease phenotypes. Staying in contact with healthcare providers for updates on variants is essential.

• Negative Result: A negative result signifies that the laboratory did not detect any specific disease-linked variants on the list of genes tested. Therefore, the patient does not have a genetic variation associated with musculoskeletal disorders among the genes analyzed by the panel.

Muscular Disease Categories Covered by This Test (Number of Genes):

• Congenital Myopathy (61 genes)

• Muscular Dystrophies (42 genes)

• Nemaline Myopathy (8 genes)

• Connective Tissue Disorders (63 genes)

• Limb-Girdle Muscular Dystrophy (21 genes)

• Myofibrillar Myopathy (8 genes)

• Osteogenesis Imperfecta and Decreased Bone Density (59 genes)

• Ehlers-Danlos Syndrome (22 genes)

• Multiple Epiphyseal Dysplasia (8 genes)

• Myopathy-Rhabdomyolysis (30 genes)

• Non-dystrophic Myotonia (10 genes)

• Abnormal Mineralization (31 genes)

Limitations of Testing 

This test is designed to identify germline pathogenic variants, including single nucleotide polymorphisms (SNPs) and small insertions and deletions (indels) of up to 1 kilobase pair (kbp). It also analyzes mutations within coding regions and the exon-intron boundaries, specifically within 50 base pairs. Any deletions or duplications larger than 1 kbp that are reportable will be confirmed using orthogonal methods before being included in the final report.

Musculoskeletal Disorders (Muscular) Panel