Thanatophoric Dysplasia (Type I & II)
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).
- Blood: 5-10 mL in EDTA, 0.5 mL in EDTA (neonate);
- DNA-minimum 10 ug in 100 uL low TE (pH8.0)
For details about specimen requirements, please refer to: Specimen Type and Requirements
Special Instructions for Genome Diagnostics Samples
If sample shipment >48 hours, ship on ice.
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
Skeletal Dysplasias: Thanatophoric Dysplasia
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