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
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Next Generation Sequencing
$900
Test Code: 2048
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Deletion / Duplication
$900
Test Code: 2049
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NGS/Del Dup Comprehensive
$1,100
Test Code: 2050
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Test Details
Technical Information
Genes:
B3GAT3
Disease Groups:
Cardiovascular Disorders
Craniosynostosis and Craniofacial Disorders
Skeletal Dysplasias
MIM:
245600
Billing
CPT Codes:
81479 x 1
Ordering
SKU:
2048 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:
- Whole blood: purple-top (EDTA) tube, minimum of 3 ml
- Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
- Fibroblasts: 2 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: 2 confluent T-25 flasks derived from amnio or CVS samples
- Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Shipping:
Ship all specimen types at room temperature by overnight courier. Do not freeze.