Achondroplasia / Hypochondroplasia

Alternate test name

Skeletal dysplasia

Gene name / Alternate gene name

FGFR3

Protein

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

Canada

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: molecular.lab@sickkids.ca

Email Cytogenetics: cytogenetics.requests@sickkids.ca

Requisition

Achondroplasia / Hypochondroplasia - requisition

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