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Multiple Epiphyseal Dysplasia and Stickler Syndrome, Autosomal Recessive via the COL9A1 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
COL9A1 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
11203COL9A181479 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

Multiple epiphyseal dysplasia (MED) is a clinically and genetically heterogeneous chondrodysplasia with either autosomal dominant or recessive inheritance. Dominant MED presents early in childhood, usually with pain in the hips or knees after exercise. Adult height is either in the lower range of normal or mildly shortened (Briggs et al. GeneReviews 2011). Stickler syndrome (STL) is a multisystem connective tissue disorder that may include ocular findings of myopia, cataract, and retinal detachment; hearing loss that is both conductive and sensorineural; midfacial underdevelopment and cleft palate (either alone or as part of the Robin sequence); and mild spondyloepiphyseal dysplasia or precocious arthritis (Robin et al. GeneReviews, 2010). At least three types of autosomal dominant and one type of autosomal recessive Stickler syndrome have been described. The autosomal recessive form of STL is very rare (Van Camp et al. Am J Hum Genet 79: 449-457, 2006).


Rare cases of dominant MED and autosomal recessive STL are caused by variants in the COL9A1 gene. COL9A1 encodes the alpha 1 chain of type IX collagen, a quantitatively minor component of cartilaginous tissues. Homozygous or compound heterozygous COL9A1 variants result in loss of function of collagen alpha-1(IX) chain. The STL-associated COL9A1 variant is a nonsense variant in the reported case (Van Camp et al. Am J Hum Genet 79:449-457, 2006), while the MED-associated variant is a splice site variant (Czarny-Ratajczak et al. Am J Hum Genet 69:969-980, 2001).

Clinical Sensitivity - Sequencing with CNV PGxome

The clinical sensitivity for COL9A1-related Stickler syndrome or MED is currently unknown.

Testing Strategy

This test provides full coverage of all coding exons of the COL9A1 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 features consistent with Stickler syndrome but who show autosomal recessive inheritance. Patients with features consistent with dominant MED but who tested negative for other more commonly mutated MED genes are also candidates. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in COL9A1.


Official Gene Symbol OMIM ID
COL9A1 120210
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


  • Briggs, Michael DPhD (2011). "Multiple Epiphyseal Dysplasia, Dominant."
  • Czarny-Ratajczak, M., et.al. (2001). "A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity." Am J Hum Genet 69(5): 969-80. PubMed ID: 11565064
  • Robin, Nathaniel H (2010). "Stickler Syndrome."
  • Van Camp, G., et.al. (2006). "A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene." Am J Hum Genet 79(3): 449-57. PubMed ID: 16909383


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

1) Select Test Method (Platform)

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2) Select Additional Test Options

No Additional Test Options are available for this test.

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