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Stickler Syndrome Type II, Marshall Syndrome, and Fibrochondrogenesis via the COL11A1 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
11187 COL11A1 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
11187COL11A181479 81479(x2) $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). About 10-20% of individuals with Stickler syndrome have type II “beaded” congenital vitreous anomaly and significant hearing loss (STL2, OMIM#604841). Marshall syndrome (OMIM#154780) shares many manifestations in common with STL, but patients more often have short stature, deafness, and abnormalities in cranial ossification as well as more-pronounced dysmorphic features (Annunen et al. Am J Hum Genet 65:974-983, 1999). Fibrochondrogenesis (OMIM#228520) is a severe short-limbed skeletal dysplasia, characterized by a flat mid-face, significant shortening of all limb segments but relatively normal hands and feet, and a small bell-shaped thorax with a protuberant abdomen (Tompson et al. Am J Hum Genet 87:708-712, 2010).

Genetics

STL2 and Marshall syndrome are inherited in an autosomal dominant manner. Fibrochondrogenesis is inherited in an autosomal recessive manner. All three disorders are caused by variant in the COL11A1 gene, which encodes the alpha 1 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. 2010). The majority of COL11A1 variants are missense variants (mainly affecting conserved glycine residues) in the triple-helical domain, splice site alternations, and truncating variants. Gross gene deletions have also been reported (Martin et al. Eur J Hum Genet 7:807-814, 1999) but are very rare. Genotype-phenotype correlation remains to be established.

Clinical Sensitivity - Sequencing with CNV PGxome

This test is predicted to detect disease variants in ~10-20% of individuals with a clinical diagnosis of STL2 (Robin et al. GeneReview, 2010) and 23-68% of individuals with Marshall syndrome or overlapping Marshall-Stickler phenotype (Annunen et al., 1999; Majava et al. Am J Med Genet 143A:258–264, 2007). Sensitivity for fibrochondrogenesis is currently unknown.

Testing Strategy

This test provides full coverage of all coding exons of the COL11A1 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 STL2/Marshall syndrome or fibrochondrogenesis, and family members of patients who have a known COL11A1 variant. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in COL11A1.

Gene

Official Gene Symbol OMIM ID
COL11A1 120280
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Citations

  • Annunen, S., et.al. (1999). PubMed ID: 10486316
  • Majava, M., et.al. (2007). PubMed ID: 17236192
  • Martin, S., et.al. (1999). PubMed ID: 10573014
  • 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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