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Test Code
1831
Test Name
Spondyloenchondrodysplasia With Immune Dysregulation
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
SPENCDI
Description

Spondyloenchondrodysplasia with immune dysregulation (SPENCDI; MIM 607944) is an autosomal recessive disorder characterized by short stature, progressive metaphyseal irregularities, most often involving the long bones at the wrists and knees, which eventually resemble enchondromas, platyspondyly with vertebral endplate irregularities, intracranial calcifications and spasticity.  These skeletal findings are frequently associated with various autoimmune disorders or findings including systemic lupus erythematosus, Sjögrens%u2019s syndrome, Raynaud%u2019s disease, vitiligo, cytopenias, hemolytic anemia, hypothyroidism, pneumonia, recurrent fevers, arthritis/arthralgia and positive ANAs. SPENCDI is caused by loss of function mutations in the phosphatase, acid, type 5, tartrate-resistance gene (ACP5 or TRAP).  ACP5 regulates the activity of osteopontin via dephosphorylation.  Osteopontin is a molecule involved with bone reabsorption and immune regulation.
Testing Schedule
Monday-Friday
Genes
ACP5
MIM
607944
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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