Short stature is the common term applied to a child whose height is 2 standard deviations or more below the mean for children of that sex and age. Although short stature can be a variant of normal growth, it can also be caused by a disease. Typically, 80% or more of the variation in height can be explained by genetic factors; however, environmental factors also play a pivotal role. The most common causes of short stature beyond the first two years of life are familial (genetic) short stature and constitutional short stature, which are normal non-pathologic variants of growth. In these cases, patients show normal results for endocrine screening tests, including those for growth hormone deficiency.
The Igenomix Short Stature Precision Panel can be used to make an accurate and directed diagnosis as well as a differential diagnosis of short stature, in order to tell this phenotype from other real and syndromic diseases and find a possible treatment if needed. It provides a comprehensive analysis of the genes involved in this condition using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.
The Igenomix Short Stature Precision Panel is indicated for those patients presenting a height below the 2.3rd percentile (2 standard deviations or more below the mean height from individuals of the same sex and age). It can be a useful tool to perform a differential diagnosis of idiopathic short stature and associated disorders, and dismiss possible syndromes.
The clinical utility of this panel is:
- The genetic and molecular confirmation for an accurate clinical diagnosis of a patient presenting short stature.
- Early initiation of multidisciplinary treatment including growth hormone supplying in case the patient proves to suffer a chronic GH deficiency. Occupational therapy might be needed in case short stature is a symptom of a specific syndrome. Either way, medical care depends on the etiology of the short stature.
- Risk assessment and genetic counselling of other family members according to the possible causes of this condition.
- Improvement of delineation of genotype-phenotype correlation.
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