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Test Code
C5129
Test Name
Stickler Syndrome 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 Stickler syndrome. Stickler syndrome is characterized by high myopia, retinal detachment, vitreoretinal degeneration and cataracts. Some patients may have hearing loss, epiphyseal dysplasia and early-onset osteoarthritis. In addition, cleft palate and Robin sequence (cleft palate, small chin and glossoptosis) are seen in about 30% of the patients. Recommended for individuals with a personal and/or family history of Stickler syndrome 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

Gene

Disorder

MIM

Inheritance

COL2A1

Stickler syndrome, type I (STL1)

Stickler syndrome, type I, nonsyndromic ocular

108300

609508

AD

COL11A1

Stickler syndrome, type II (STL2)

Marshall syndrome (MRSHS)

604841

154780

AD

AD

COL11A2

Stickler syndrome, type III (STL3)

184840

AD

COL9A1

Stickler syndrome, type IV (STL4)

614134

AR

COL9A2

Stickler syndrome, type V (STL5)

614284

AR

COL9A3

Stickler syndrome, COL9A3 related

-

AR

LOXL3

Stickler syndrome, LOXL3 related

-

AR

VCAN

Wagner vitreoretinopathy (WGVRP)

143200

AR

 

 

 
Testing Schedule
Monday-Friday
Genes
COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, LOXL3, VCAN
MIM
108300, 143200, 154780, 184840, 604841, 609508, 614134, 614284
Disease Group
Craniosynostosis And Craniofacial Disorders, Hearing Disorders, Ophthalmology
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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