Microcephaly is generally defined as a small head size, typically greater than two standard deviations below normal, as measured via occipital frontal circumference, using a measuring tape. Microcephaly is a clinical sign and not a disease. It is the result of a premature fusion of the skull sutures that leads to an abnormal shape and a growth limitation of the head circumference that can later result in long term neurological sequelae. The cause of microcephaly can be divided in two groups: premature fusion of cranial sutures, also known as craniosynostosis or poor brain growth. Genetic conditions are one of the etiologies of microcephaly and include: Trisomy 21, 13, 18, Cri Du Chat syndrome, Williams syndrome etc. Also, inborn errors of metabolism, disruptive injuries and maternal deprivation problems can lead to microcephaly. Primary microcephaly is usually inherited in an autosomal recessive pattern.
The Igenomix Primary Microcephaly Precision Panel can be as a diagnostic tool to reveal underlying genetic conditions ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved, and their high or intermediate penetrance.
The clinical utility of this panel is:
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