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Hypochondroplasia, FGFR3 single mutation (N540K)
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Description
Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints. Prevalence is estimated at around 1 in 33,000. The clinical manifestations generally become apparent during childhood. Bowlegs may also be present. An association with intellectual deficit has been reported. The disorder is caused by mutations in the fibroblast growth factor receptor-3 gene (FGFR3; 4p16.3).
External Information
Click here for more information about the Hypochondroplasia, FGFR3 single mutation (N540K) genetic test.Additional information
Samples | EDTA, LA, TB, VC |
---|---|
Method of testing | Sanger/NGS |
Turnaround Time (TAT) | 7-10 days |
Number of Genes | 1 |
Genes / Chromosomes / SNPs | FGFR3 [N540K (C1620A) – N540K (C1620G)] |
External Information | Click here for more information about the Hypochondroplasia, FGFR3 single mutation (N540K) genetic test. |