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Test Code
5126
Test Name
Desbuquois Dysplasia And Related Disorders NGS Panel
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
Alternate Names
DBQD
Description

Desbuquois dysplasia and related disorders are characterized by skeletal dysplasia, short stature and congenital joint dislocations.

Desbuquois dysplasia and related disorders NGS panel consists of eleven genes: B3GALT6, B3GAL3, CANT1, CHST3, CSGALNACT1, FLNB, GZF1, IMPAD1, KIF22, SLC26A2, XYLT1.

 

Gene

Disorder

MIM

Inheritance

B3GALT6      

Spondyloepimetaphyseal dysplasia with joint laxity, type 1,

with or without fractures (SEMDJL1)

271640         

AR             

B3GAT3

Multiple joint dislocations, short stature, craniofacial dysmorphism,

with or without congenital heart defects (JDSCD)

245600

AR

CANT1

Desbuquois dysplasia 1 (DBQD1)

251450

AR

CHST3

Spondyloepiphyseal dysplasia with congenital joint dislocations (SEDCJD)

143095

AR

CSGALNACT1

Desbuquois dysplasia, CSGALNACT1 related

-

AR

FLNB

Larsen syndrome (LRS)

150250

AD

GZF1

Joint laxity, short stature, and myopia (JLSM)

617662

AR

IMPAD1

Chondrodysplasia with joint dislocations, GPAPP type

614078

AR

KIF22

Spondyloepimetaphyseal dysplasia with joint laxity, type 2 (SEMDJ2)

603546

AD

SLC26A2

Diastrophic dysplasia (DTD)

222600

AR

XYLT1

Desbuquois dysplasia 2 (DBQD2)

615777

AR
Testing Schedule
Monday-Friday
Genes
B3GALT6, B3GAT3, CANT1, CHST3, CSGALNACT1, FLNB, GZF1, IMPAD1, KIF22, SLC26A2, XYLT1
MIM
143095, 150250, 222600, 245600, 251450, 271640, 603546, 614078, 615777
Disease Group
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.
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