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Achondroplasia / Hypochondroplasia

Alternate test name
Skeletal dysplasia
Gene name / Alternate gene name
  • FGFR3
Fibroblast growth factor receptor 3
Lab area
Genome Diagnostics - Molecular Genetics
Method and equipment
Targeted analysis of recurrent mutations
Expected turn-around time
Prenatal samples: 2 weeks Pregnancy/STAT: 2-3 weeks Routine: 4-6 weeks
Specimen type

Blood; gDNA. 

For details about specimen requirements, please refer to: Specimen Type & Requirements (PDF).

Specimen requirements
  • Blood: 5-10 mL in EDTA, 0.5 mL in EDTA (neonate);
  • DNA-minimum 10 ug in 100 uL low TE (pH8.0)
Storage and transportation

Room Temperature

Special requirements

Special Instructions for Genome Diagnostics Samples

If sample shipment >48 hours, ship on ice.

Shipping information
The Hospital for Sick Children
Division of Genome Diagnostics
555 University Avenue, Black Wing, Room 3416
Toronto, ON
M5G 1X8
Phone: 416-813-7200 ext. 2
Hours: Monday to Friday, 8 a.m. to 4:30 p.m.
Off hours: Please send to Rapid Response Laboratory, 555 University Avenue, Room 3642
Email Molecular Lab:
Email Cytogenetics:
Background and clinical significance

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

Disease condition

Skeletal Dysplasias: Achondroplasia

Skeletal Dysplasias: Hypochondroplasia

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