Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects (MIM 245600) is an autosomal recessive disorder caused by mutations in the B3GAT3 gene.  B3GAT3 codes for galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3 and it catalyzes an initial step in the synthesis of glycosaminoglycan side chains of proteoglycans.read more

Tests Available

By gene: B3GAT3
Sanger Sequencing
$670
Test Code: 2048
Deletion / Duplication
$680
Test Code: 2049
Sanger/Del Dup Comprehensive
$1,250
Test Code: 2050

Test Details

Technical Information
Genes: 
B3GAT3
Disease Groups: 
Cardiovascular Disorders
Craniosynostosis and Craniofacial Disorders
Skeletal Dysplasias
MIM: 
245600
Billing
Price: 
$670
CPT Codes: 
81479 x 1
Ordering
SKU:
2048
Turnaround Time: 
Typically 1 to 2 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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