Number of Panel Genes:
4
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.
Tests Available
4 Panel Genes: CANT1, CSGALNACT1, IMPAD1, XYLT1
|
Next Generation Sequencing
$1,190
Test Code: 1854
|
Deletion / Duplication
$850
Test Code: 1855
|
NGS/Del Dup Comprehensive
$1,940
Test Code: 1856
|
Test Details
Technical Information
Panel Genes:
CANT1, CSGALNACT1, IMPAD1, XYLT1
Disease Groups:
Skeletal Dysplasias
MIM:
251450
614078
615777
Billing
Price:
$1,190
CPT Codes:
81479 x 4
Ordering
SKU:
1854 Turnaround Time:
Typically 3 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Non-Prenatal Specimens:
- Whole blood: purple-top (EDTA) tube, minimum of 3 ml
- Genomic DNA: minimum of 10 µg (at a concentration of at least 50 ng/µl)
- Fibroblasts: 4 confluent T-25 flasks
- Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens:
- Cultured cells: 4 confluent T-25 flasks derived from amnio or CVS samples
- Genomic DNA: minimum of 10 µg (at a concentration of at least 50 ng/µl)
Shipping:
Ship all specimen types at room temperature by overnight courier. Do not freeze.
Related Tests
| Disorder |
Gene |
|
|---|---|---|
| Desbuquois dysplasia 1 | CANT1 | |
| Desbuquois dysplasia 2 | XYLT1 |