Test Directory

Clear All
Test Code
2050
Test Name
Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, And Congenital Heart Defects
CPT Codes
81479
Expected Turnaround Time
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Clinical Utility
Genetic analysis to provide a molecular diagnosis of this disorder. Recommended for individuals with a personal and/or family history of this disorder to ensure appropriate treatment and establish recurrence risk for family members.
Specimen and Container Info

Non-Prenatal Specimens

Preferred/Alternate

Specimen Type

Containers

Volume

Preferred Specimen Type

Whole Blood

Lavender Top (EDTA)

3 mL

Alternate Specimen Type

Genomic DNA

1.5 mL Tube

3 µg (at a concentration of at least 30 ng/µl), preferably in TE solution.

Alternate Specimen Type

Fibroblasts

T-25 Flasks

2 confluent T-25 flasks, filled to capacity

Alternate Specimen Type

Saliva (Whole blood is recommended for CNV)

DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children

Follow kit instructions (www.dnagenotek.com)

Prenatal Specimens

Either specimen type below is acceptable.

Specimen Type

Containers

Volume

Cultured cells

T-25 Flasks

2 confluent T-25 flasks derived from amnio or CVS samples.

Genomic DNA

1.5 mL Tube

3 µg (at a concentration of at least 30 ng/µl), preferably in TE solution.

NOTE: For specimens from outside of North America, the preferred specimen type is Genomic DNA. HNL Genomics does not recommend shipping whole blood or cultured cells from any location other than the United States, Canada, or Mexico.
Transport Instructions
  • Transport at room temperature within 24 hours.
  • If the specimen cannot be transported to the lab within 24 hours, refrigerate for up to 72 hours.
  • Do not freeze or expose to extreme temperatures, refrigerate for up to 72 hours if cannot be transported to lab within 24 hours. 
Stability Requirements

Room Temperature

24 hours

Refrigerated

72 hours
Causes for Rejection
  • Improperly labeled specimen (minimum of two patient identifiers)
  • Inappropriate specimen type
  • Incomplete or incorrect test request form
  • Insufficient volume
  • Specimen has leaked in transit
  • Specimen without a test order
Methodology
Next Generation Sequencing and Copy Number Variation Analysis
Performing Location
Genomics - Snowdrift
Description

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. In addition to multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects patients with B3GAT3 mutations may also have elbow contractures, hyperextensible large joints, scoliosis, osteoporosis, chest asymmetry and clubfoot. The main cardiovascular findings include mitral valve prolapse, septal defects, bicuspid aortic valve, aortic root dilatation, and left ventricular hypertrophy.

Differential diagnosis includes Larsen syndrome (LRS; MIM 150250) and spondyloepiphyseal dysplasia with congenital joint dislocations (MIM 143095).
Testing Schedule
Monday-Friday
Genes
B3GAT3
MIM
245600
Disease Group
Cardiovascular Disorders, Craniosynostosis and Craniofacial Disorders, Skeletal Disorders
The American Medical Association (AMA) Current Procedural Terminology (CPT) codes published by HNL Lab Medicine are guidelines and are intended for informational purposes only. CPT coding is the exclusive responsibility of the billing entity. View the Terms.
© 2026 HNL Lab Medicine. All rights reserved.