Thanatophoric Dysplasia (Type I & II)

Alternate test name

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. 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

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

Thanatophoric Dysplasia (Type I & II) - requisition

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