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Thanatophoric Dysplasia (Type I & II)

Alternate test name

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.  If sending a prenatal sample, please contact the laboratory prior to sending sample to discuss sample requirements. 

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

For details about specimen requirements, please refer to: Specimen Type and Requirements

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

Thanatophoric dysplasia (TD) is one of the most common lethal skeletal dysplasias. TD is characterized by extremely short ribs, narrow thorax, tubular bones, hypotonia, brachydactyly, distinctive facial features, macrocephaly, a small chest which crowds the respiratory system, and compression of the brain due to deformations of the skull. Two types of TD exist: Type I based on the ab-sence of cloverleaf skull and a curved femur, and Type II based on the presence of a cloverleaf skull and a straight femur.

See related information sheet: Thanatophoric dysplasia

Disease condition

Skeletal Dysplasias: Thanatophoric Dysplasia

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