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Gene panels for Clinical Areas

Clinical AreaOrthopaedics

Associated diseases

Notes on the clinical area

Here you will find the disease-related gene panels available for the clinical area specified above.

If you cannot find the disease you are looking for, please use a known synonym in the search (also in English).


Molecular genetic diagnostics are also used in orthopaedics to clarify the hereditary causes of many of the genetically determined diseases. The aim here is to identify deviations from the reference genome ("wild type") and then, if necessary, to distinguish between neutral variants and pathogenic mutations that are important for the physiological development and undisturbed function of bones, joints and soft tissues. The inheritance patterns of genetically determined diseases are the basis of genetic counselling for patients, persons at risk and affected families. Over the past 30 years, hundreds of genes that cause hereditary diseases or contribute to the development of genetic disorders have been successively characterised. Current results of genetic research have a direct impact on the diagnostic procedure in the laboratory and in genetic counselling. For example, mutations in independent genes on different chromosomes can cause clinically indistinguishable syndromes (genetic heterogeneity in the various forms of skeletal dysplasia with >300 different mutated genes). On the other hand, different mutations in one and the same gene lead to clinically clearly separated disease entities (mutated COL1A1 genes lead to four different osteogenesis imperfecta types and/or to Ehlers-Danlos syndrome [Arthrochalasia type 1]).

Formal genetics and etiology

Formal genetically and etiologically, the following groups of genetic diseases can be distinguished:

  • monogenic diseases (autosomal or X-chromosomal inheritance)
  • mitochondrial diseases (maternal or autosomal inheritance)
  • multifactorial diseases (interaction of several to many genes plus environmental factors)

Congenital malformations

Congenital malformations of bones and joints often appear sporadically - is there a genetic (co-)cause? Many inherited orthopaedic conditions have been proven to be based on genetic changes and lead to disorders in the proteins that build bone and soft tissue. DNA diagnostics therefore often involves a step-by-step procedure in which the most frequent mutations are first tested before the very rare genetic causes are also identified in parallel approaches using comprehensive and more cost-intensive panel procedures. Mutations found or all variants with unclear significance (VUS) are verified by DNA sequence analysis using Sanger technology.

Ehlers-Danlos syndrome

The differential diagnosis of Ehlers-Danlos syndrome (as well as the clinically sometimes difficult to discern Loeys-Dietz syndrome) also includes Marfan syndrome, a rare congenital disease caused by mutation of the FBN1 gene, among other instances. The formation of fibrillin or microfibrillin is disturbed, which is responsible for the stability, strength and elasticity of connective tissue. Cracks and stretch marks appear in the skin in addition to myopia and lens opacity. The consequences in the further developments in Marfan syndrome concern the affected heart and blood vessels, possibly with aortic rupture as the most frequent cause of death.


The terms arthrogryposis and arthrogryposis multiplex congenital (AMC) do not describe a uniform diagnosis in a heterogeneous group of rare syndromal diseases. The common feature is a lack of fetal motility in utero. More than 300 specific diseases with arthrogryposis features have been described and include neuromuscular diseases, skeletal dysplasias, multiple syndromes with congenital anomalies. The exact differential diagnosis is ultimately often based on molecular genetic findings only. Causes of arthrogryposis are genetic and environmental factors. Genetic causes include individual genetic defects (autosomal dominant, recessive, X-linked and mitochondrial mutations). More than 35 specific genetic disorders have been identified associated with AMC.