Musculoskeletal Disorders

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Our virtual panels include over 3,000 genes selected based on the most up-to-date literature, gene reviews and variant databases. Our whole genome approach offers cost-effectiveness by reducing the need for multiple targeted tests, and maximises diagnostic yield by allowing you to combine panels, select individual genes, and surface variants across all regions of the genome.

Genetics in Musculoskeletal Disorders

The identification of at-risk family members enables the initiation of preventive measures and the provision of lifestyle recommendations. Simultaneously, it validates the need for regular check-ups under medical supervision. Genetic diagnosis also extends its utility to family planning considerations.

While genetic panel tests are highly valuable in diagnosing musculoskeletal disorders, it’s essential to interpret their results in the context of a patient’s clinical presentation and other diagnostic tests. We recommend working closely with genetic counselors and other specialists to ensure that genetic information is used effectively to diagnose, treat, and manage musculoskeletal conditions.

For further information on tailoring treatment plans to an individual’s genetic profile, leading to improved outcomes and reduced side effects, please visit our pharmacogenomics page.

Musculoskeletal Disorder Panels

Skeletal ciliopathies   
Acute rhabdomyolysis 
Amelogenesis imperfecta   
Choanal atresia   
Chondrodysplasia punctata   
Congenital myopathy
Distal myopathies
Multiple Epiphyseal Dysplasia   
Osteogenesis imperfecta   
Rare syndromic craniosynostosis or isolated multi suture synostosis  
Skeletal dysplasia    
Stickler syndrome    
Thoracic dystrophies 

How to order

For information about our registration process and prices, please don’t hesitate to get in touch. A member of our friendly team will get back to you shortly.