Desbuquois dysplasia (DBQD) is a genetically, clinically and radiographically heterogeneous disorder.
It is characterized by dislocations of the large joints, severe prenatal and postnatal growth retardation, rhizomelic dwarfism, joint laxity, thoracic hypoplasia, progressive scoliosis, and a flat face with prominent eyes.  Typical radiological features include short long bones and a monkey wrench appearance to the proximal femur caused by an enlarged lesser trochanter. 

read more

Tests Available

By gene: CANT1
Next Generation Sequencing
Test Code: 1113
Deletion / Duplication
Test Code: 1114
NGS/Del Dup Comprehensive
Test Code: 1524

Test Details

Technical Information
Disease Groups: 
Skeletal Dysplasias
CPT Codes: 
81479 x 1
Turnaround Time: 
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Non-Prenatal Specimens: 
  1. Whole blood: purple-top (EDTA) tube, minimum of 3 ml
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
  3. Fibroblasts: 2 confluent T-25 flasks
  4. Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens: 
  1. Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Ship all specimen types at room temperature by overnight courier. Do not freeze.

Search Tests

TIP: enter a partial disorder name or gene to widen your search