Skeletal dysplasia (Achondroplasia): FGFR3 Targeted Sequencing

Diagnostic Use

The skeletal dysplasias are a group of more than 450 heritable disorders of bone. For improved clinical care it is important to determine a precise diagnosis to aid in management, familial recurrence and identify those disorders highly associated with mortality.

Achondroplasia is by far the most common form of non-lethal skeletal dysplasia. This group of disorders all result from heterozygosity for activation mutations in the gene that encodes Fibroblast Growth Factor Receptor 3 (FGFR3). This group of disorders includes thanatophoric dysplasia, achondroplasia, hypochondroplasia and the very rare severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN).


Genetics - Molecular Pathology

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Constituent Tests

Turnaround Time

4 weeks

Test Code