Hypochondroplasia is a developmental disorder that results in a disproportionately short stature, small and imperfectly developed limbs and a head that appears large in comparison with the underdeveloped portions of the body. It is a form of short-limbed dwarfism.
It is caused by an autosomal dominant genetic defect in FGFR3 gene. 70-80% of affected individuals have a pathogenic variant of either c.1620CtoA or c.1620CtoG and a targeted analysis for these variants is a good first step in the diagnosis of hypochondroplasia.
2 mL EDTA Blood
Turnaround Time (days)
FGFR3 - c.1620CtoA & c.1620CtoG
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- Inherited in an Autosomal Dominant manner, meaning only one mutated copy of the gene is required for the condition to occur.