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COL2A1-Related Disorders via the COL2A1 Gene

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
COL2A1 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
11191COL2A181479 81479,81479 $990 Order Options and Pricing

Pricing Comments

Our favored testing approach is exome based NextGen sequencing with CNV analysis. This will allow cost effective reflexing to PGxome or other exome based tests. However, if full gene Sanger sequencing is desired for STAT turnaround time, insurance, or other reasons, please see link below for Test Code, pricing, and turnaround time information. If the Sanger option is selected, CNV detection may be ordered through Test #600.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

Click here for costs to reflex to whole PGxome (if original test is on PGxome Sequencing platform).

Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing platform).

The Sanger Sequencing method for this test is NY State approved.

For Sanger Sequencing click here.

Turnaround Time

3 weeks on average for standard orders or 2 weeks on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.


Genetic Counselors


  • Juan Dong, PhD, FACMG

Clinical Features and Genetics

Clinical Features

Stickler syndrome (STL) is a multisystem disorder characterized by ocular, skeletal, orofacial and auditory defects. Ocular defects include myopia, cataract, and retinal detachment. Hearing loss can be both conductive and sensorineural. Other features include midfacial underdevelopment and cleft palate and mild spondyloepiphyseal dysplasia and/or precocious arthritis (Robin et al. 2017). Pathogenic variants in COL2A1, COL11A1, COL11A2, COL9A1, COL9A2 and COL9A3 are responsible for type I, Type II, Type III, Type IV, Type V and type VI Stickler syndrome, respectively (Robin et al. 2017; Van Camp et al. 2006; Baker et al. 2011; Nikopoulos et al. 2011; Vijzelaar et al. 2013). Stickler syndrome Type I (STL1) is characterized by “membranous” congenital vitreous anomaly; Stickler syndrome Type II (STL2) is characterized by “beaded” congenital vitreous anomaly, Stickler syndrome (STL3) has craniofacial and joint abnormalities and hearing loss, but no ocular findings. Stickler syndrome Type IV and Type V have moderate-to-severe sensorineural hearing loss, moderate-to-high myopia with vitreoretinopathy (Baker et al. 2011). Stickler syndrome Type VI features moderate-to-severe sensorineural hearing loss, moderate-to-high myopia, and midface retrusion (Faletra et al. 2014). One study suggested that hearing loss (mostly mild to moderate) was found in ~60% of Stickler patients. Hearing loss was seen in patients with COL11A1 (~80%), COL11A2 (~94%) and COL2A1 (~52%) pathogenic variants (Acke et al. 2012). Stickler syndrome was also found in 39 out of 141 newborns who were diagnosed with Pierre-Robin sequence (Thouvenin et al. 2013).


Pathogenic variants in COL2A1 mainly cause autosomal dominant Stickler syndrome, as well as autosomal dominant Achondrogenesis type II/Hypochondrogenesis, Spondyloepiphyseal dysplasia congenital, Spondyloepimetaphyseal dysplasia, Strudwick type, Spondyloperipheral dysplasia, Kniest dysplasia, Osteoarthritis with mild chondrodysplasia, Platyspondylic lethal skeletal dysplasia, Torrance type and Multiple Epiphyseal Dysplasia (Jackson 2012). Pathogenic variants in the COL2A1 gene were also reported to be associated with autosomal recessive Otospondylomegaepiphyseal dysplasia (Tham et al. 2015). COL2A1 encodes the alpha 1 chain of type II collagen, a major structural component of cartilaginous tissues. More than 500 pathogenic variants have been reported: missense (~47%), nonsense (~8%), splicing (~18%), small deletions/insertions (~26%), and a few large deletions/complex rearrangements (~1%) (Human Gene Mutation Database). Glycine substitution in the collagen triple helix repeat domain of the COL2A1 protein accounts for almost 34% of all deleterious variants identified in the COL2A1 gene (Barat-Houari et al. 2016).

Clinical Sensitivity - Sequencing with CNV PGxome

In one study, pathogenic variants in the COL2A1 gene were found in 100 of 188 probands with clinically diagnosed Stickler syndrome (Hoornaert et al. 2010).

Testing Strategy

This test provides full coverage of all coding exons of the COL2A1 gene plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define full coverage as >20X NGS reads or Sanger sequencing. PGnome panels typically provide slightly increased coverage over the PGxome equivalent. PGnome sequencing panels have the added benefit of additional analysis and reporting of deep intronic regions (where applicable).

Dependent on the sequencing backbone selected for this testing, discounted reflex testing to any other similar backbone-based test is available (i.e., PGxome panel to whole PGxome; PGnome panel to whole PGnome).

Indications for Test

Candidates for this test are patients with clinical and radiologic features consistent with Stickler syndrome and related disorders. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in COL2A1.


Official Gene Symbol OMIM ID
COL2A1 120140
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


  • Acke F.R. et al. 2012. Orphanet Journal of Rare Diseases. 7: 84. PubMed ID: 23110709
  • Baker S. et al. 2011. American Journal of Medical Genetics. Part A. 155A: 1668-72. PubMed ID: 21671392
  • Barat-Houari M. et al. 2016. Human Mutation. 37: 7-15. PubMed ID: 26443184
  • Faletra F. et al. 2014. American Journal of Medical Genetics. Part A. 164A: 42-7. PubMed ID: 24273071
  • Hoornaert K.P. et al. 2010. European Journal of Human Genetics : Ejhg. 18: 872-80. PubMed ID: 20179744
  • Human Gene Mutation Database (Bio-base).
  • Jackson G.C. et al. 2012. Human Mutation. 33: 144-57. PubMed ID: 21922596
  • Nikopoulos K. et al. 2011. Investigative Ophthalmology & Visual Science. 52: 4774-9. PubMed ID: 21421862
  • Robin N.H. et al. 2017. Stickler Syndrome. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong C-T, and Stephens K, editors. GeneReviews™, Seattle (WA): University of Washington, Seattle. PubMed ID: 20301479
  • Tham E. et al. 2015. Clinical Genetics. 87:496-8. PubMed ID: 25060605
  • Thouvenin B. et al. 2013. American Journal of Medical Genetics. Part A. 161A: 312-9. PubMed ID: 23303695
  • Van Camp G. et al. 2006. American Journal of Human Genetics. 79: 449-57. PubMed ID: 16909383
  • Van Der Hout et al. 2002. PubMed ID: 12204008
  • Vijzelaar R. et al. 2013. Bmc Medical Genetics. 14: 48. PubMed ID: 23621912


Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page

If ordering a Duo or Trio test, the proband and all comparator samples are required to initiate testing. If we do not receive all required samples for the test ordered within 21 days, we will convert the order to the most effective testing strategy with the samples available. Prior authorization and/or billing in place may be impacted by a change in test code.

Specimen Types

Specimen Requirements and Shipping Details

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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View Ordering Instructions

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2) Select Additional Test Options

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Note: acceptable specimen types are whole blood and DNA from whole blood only.
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