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Stickler Syndrome Type III, Otospondylomegaepiphyseal Dysplasia, Weissenbacher-Zweymuller Syndrome, and Deafness, Autosomal Dominant 13 via the COL11A2 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
11189 COL11A2 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
11189COL11A281479 81479,81479 $890 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 backbone).

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

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

For Sanger Sequencing click here.

Turnaround Time

18 days on average for standard orders or 13 days 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.

EMAIL CONTACTS

Genetic Counselors

Geneticist

  • Juan Dong, PhD, FACMG

Clinical Features and Genetics

Clinical Features

Stickler syndrome is a multisystem connective tissue disorder that can 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). Stickler syndrome type III (STL3; OMIM#184840) is a rare form of STL; patients with this type usually have craniofacial and joint manifestations and hearing loss but have no ocular findings.

Otospondylomegaepiphyseal dysplasia (OSMED; OMIM#215150) is characterized by sensorineural hearing loss, enlarged epiphyses, disproportionate shortness of the limbs, and abnormalities in vertebral bodies (Melkoniemi et al. Am J Hum Genet 66:368–377, 2000).

Weissenbacher-Zweymuller syndrome (WES; OMIM# 277610) is a rare condition described as “combination of a Pierre Robin sequence with a fetal chondrodysplasia”. It has features that overlap the Kniest-Stickler-dysplasia group (Pihlajamaa et al. Am J Med Genet 80:115–120, 1998).

Autosomal dominant nonsyndromic hearing loss (DFNA13; OMIM#601868) is a postlingual form of non-progressive deafness that predominantly affects middle frequencies (McGuirt et al. Nat Genet 23:413-419, 1999).

Genetics

STL3, WES and DFNA13 are inherited in an autosomal dominant manner, while OSMED is inherited in an autosomal recessive manner. All four disorders can be caused by variant in the COL11A2 gene, which encodes the alpha 2 chain of type XI collagen. Type XI procollagen is a heterotrimeric protein assembled from the products of three genes: COL11A1, COL11A2, and COL2A1. Mature type XI collagen accounts for 3%–10% of the collagenous protein content of cartilage (Tompson et al. Am J Hum Genet 87:708-712, 2010). The majority of COL11A2 variants are truncating variants and missense variants mainly affecting conserved glycine residues in the triple-helical domain.

Clinical Sensitivity - Sequencing with CNV PGxome

This test is predicted to detect disease variants in virtually all individuals with a clinical diagnosis of OSMED (Melkoniemi et al., 2000). Sensitivity for STL3, WES, and DFNA13 is currently unknown.

Testing Strategy

This test provides full coverage of all coding exons of the COL11A2 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 STL3, OSMED, WES, or DFNA13 and family members of patients who have a known COL11A2 variant. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in COL11A2.

Gene

Official Gene Symbol OMIM ID
COL11A2 120290
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Citations

  • McGuirt, W. T., et.al. (1999). PubMed ID: 10581026
  • Melkoniemi, M., et.al. (2000). PubMed ID: 10677296
  • Pihlajamaa, T., et.al. (1998). PubMed ID: 9805126
  • Robin, Nathaniel H (2010).
  • Tompson, S. W., et.al. (2010). PubMed ID: 21035103

Ordering/Specimens

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


Specimen Types

Specimen Requirements and Shipping Details

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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ORDER OPTIONS

View Ordering Instructions

1) Select Test Method (Backbone)


1) Select Test Type


2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

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