Achondroplasia / Hypochondroplasia
For details about specimen requirements, please refer to: Specimen Type & Requirements (PDF).
- Blood: 5-10 mL in EDTA, 0.5 mL in EDTA (neonate);
- DNA-minimum 10 ug in 100 uL low TE (pH8.0)
Special Instructions for Genome Diagnostics Samples
If sample shipment >48 hours, ship on ice.
Achondroplasia (ACH) is characterized by abnormal bone growth that results in short stature with disproportionately short arms and legs, a large head, and characteristic facial features. Intelligence and life span are usually unaffected, although compression of the spinal cord and/or upper airway obstruction during infancy may result in medical complications.
Hypochondroplasia (HCH) is also characterized by short stature with disproportionately short arms and legs. The skeletal features are very similar to Achondroplasia but usually tend to be milder. Medical problems common to Achondroplasia occur less frequently in Hypochondroplasia, however deficits in mental capacity may be more common.
See related information sheet Achondroplasia/Hypochondroplasia
Skeletal Dysplasias: Achondroplasia
Skeletal Dysplasias: Hypochondroplasia
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