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Test Code
1783
Test Name
Spondylocostal Dysostosis 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
SCDO
Description

The spondylocostal dysostoses (SCDO) are a genetically heterogeneous group of axial skeletal disorders defined by segmentation defects throughout the vertebral column in combination with rib abnormalities. The most common radiographic findings are multiple hemivertebrae, malalignment of the ribs, intercostal rib fusions, and reduced rib number. Clinical features include short trunk, short neck, and scoliosis. Pulmonary hypertension and other severe respiratory complications may occur in infancy due to reduced thorax size and consequent restriction of lung capacity. Males may have an increased risk for inguinal hernia.

The spondylocostal dysostosis NGS panel consists of six genes: DLL3, HES7, LFNG, MESP2, RIPPLY2 and TBX6.

Gene

Disorder

MIM

Inheritance

DLL3

Spondylocostal dysostosis 1, autosomal recessive

277300

AR

HES7

Spondylocostal dysostosis 4, autosomal recessive

613686

AR

LFNG

Spondylocostal dysostosis 3, autosomal recessive

609813

AR

MESP2

Spondylocostal dysostosis 2, autosomal recessive

608681

AR

RIPPLY2

Klippel-Feil syndrome, RIPPLY2 related

Spondylocostal dysostosis 6, autosomal recessive

616566

AR

AR

TBX6

Spondylocostal dysostosis 5

122600

AD / AR
Testing Schedule
Monday-Friday
Genes
DLL3, HES7, LFNG, MESP2, RIPPLY2, TBX6
MIM
122600, 277300, 608681, 609813, 613686
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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