Desbuquois dysplasia (DBQD) is an autosomal recessive chondrodysplasia 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.  A unique radiological feature of patients with DBQD is a monkey wrench appearance to the proximal femur caused by an enlarged lesser trochanter.  Three subtypes of DBQD have beenread more

Tests Available

By gene: XYLT1
Next Generation Sequencing
$990
Test Code: 1851
Deletion / Duplication
$680
Test Code: 1852
NGS/Del Dup Comprehensive
$1,570
Test Code: 1853

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Test Details

Technical Information
Genes: 
XYLT1
Disease Groups: 
Skeletal Dysplasias
MIM: 
615777
Billing
Price: 
$990
CPT Codes: 
81479 x 1
Ordering
SKU:
1851
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: 
  1. Whole blood: purple-top (EDTA) tube, minimum of 3 ml
  2. Genomic DNA: minimum of 10 µg (at a concentration of at least 50 ng/µl)
  3. Fibroblasts: 4 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: 4 confluent T-25 flasks derived from amnio or CVS samples
  2. 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.

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