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:
- 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.