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Paediatric Laboratory Medicine

Skeletal Dysplasias: Achondroplasia

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.

Test Name

Skeletal Dysplasias: Achondroplasia

Alternate Name/ Synonym

  • ACH
  • Achondroplastic dwarfism

Gene Name

  • FGFR3

Test Code

ACHON

Division

Molecular Genetics

Method

Targeted analysis of recurrent mutations

External Proficiency Testing

CAP

Turn Around Time

2 weeks (Prenatal samples), 2-3 weeks (Pregnancy/Urgent samples), 4-6 weeks (Routine)

Protein

Fibroblast growth factor receptor 3

Disease/Condition

Skeletal Dysplasias: Achondroplasia

Specimen Type

Blood; gDNA. 

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

Minimum Specimen Requirements

5-10 mL EDTA or ACD 0.5 mL EDTA (neonate); minimum 10 ug in 100 uL low TE (pH8.0)

Storage/Transportation

Room Temperature

Special Requirements

Special Instructions for Genome Diagnostics Samples

If sample shipment >48 hours, ship on ice.

Approval is not required

CPT Codes

81401

Shipping and Contact Information

The Hospital for Sick Children
Rapid Response Laboratory
170 Elizabeth Street, Room 3642
Toronto, ON
M5G 2G3
Canada
Phone: 416-813-7200
Phone: 1-855-381-3212

Interpretation

Interpretation is provided in report