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Ehlers-Danlos Syndrome, Classic Type via the COL5A1 Gene

Summary and Pricing

Test Method

Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
3217 COL5A1 81479 81479,81479 $990 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
3217COL5A181479 81479,81479 $990 Order Options and Pricing

Pricing Comments

This test is also offered via our exome backbone with CNV detection (click here). The exome-based test may be higher priced, but permits reflex to the entire exome or to any other set of clinically relevant genes.

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

Testing run on PG-Select capture probes does not include exome-wide CNV analysis. Reflex is available to PGxome or an exome-based panel, or you can use this gene list to create a custom panel (click here).

Click here for costs to reflex to whole PGxome.

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.

EMAIL CONTACTS

Genetic Counselors

Geneticist

  • Stela Berisha, PhD, FACMG

Clinical Features and Genetics

Clinical Features

Classic Ehlers-Danlos syndrome (EDS) is a heritable connective tissue disorder characterized by skin hyperextensibility, fragile and soft skin, delayed wound healing with formation of atrophic scars, easy bruising, and generalized joint hypermobility (Malfait et al. 2010). It includes two previously designated subtypes, EDS type I and EDS type II, which are now recognized to form a continuum of clinical findings and differ only in phenotypic severity.

Genetics

EDS, classic type is inherited in an autosomal dominant manner. It is estimated that approximately 50% of affected individuals have a de novo mutation. Mutations in the COL5A1 and the COL5A2 genes, encoding the α1 and the α2-chain of type V collagen respectively, are responsible for the majority of patients with classic EDS (Malfait et al. 2005). Type V collagen is a quantitatively minor fibrillar collagen that is widely distributed in a variety of tissues, and present mainly as [α1(V)]2 α2(V) heterotrimers in skin, bone, and tendon. It forms heterotypic fibrils with type I collagen and controls collagen fibril assembly in several tissues (Wenstrup et al. 2004). A recent study found mutations in 25 out of 28 clinical diagnosed classic EDS families. 21 of the reported mutations are found in COL5A1 and only 4 in COL5A2 (Ritelli et al. 2013). There are ~120 unique reported pathogenic COL5A1 mutations in the Human Gene mutation Database. They are: missense (37%), splicing (22%), small deletion/duplication (37%), and large deletion/duplication (3%) and one translocation (Human Gene Mutation Database).

Clinical Sensitivity - Sequencing with CNV PG-Select

COL5A1 or COL5A2 mutations have been identified in at least 50% of affected individuals with classic EDS (Malfait et al. 2011).

So far, only a few large deletions/duplications have been reported in COL5A1 (Symoens et al. 2012; Human Gene Mutation Database).

Testing Strategy

This test provides full coverage of all coding exons of the COL5A1 gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

Indications for Test

Candidates for this test are patients with clinical features consistent with EDS, classic type, and family members of patients who have known COL5A1 mutations.

Gene

Official Gene Symbol OMIM ID
COL5A1 120215
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Citations

  • Human Gene Mutation Database (Bio-base).
  • Malfait F, Paepe A de. 2005. Molecular genetics inclassic Ehlers-Danlos syndrome. American Journal of Medical Genetics Part C: Seminars in Medical Genetics 139C: 1723. PubMed ID: 16278879
  • Malfait F, Wenstrup R, Paepe A De. 2011. Ehlers-Danlos Syndrome, Classic Type. In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong C-T, Smith RJ, and Stephens K, editors. GeneReviews(), Seattle (WA): University of Washington, Seattle. PubMed ID: 20301422
  • Malfait F, Wenstrup RJ, Paepe A De. 2010. Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type. Genetics in Medicine 12: 597605. PubMed ID: 20847697
  • Ritelli M, Dordoni C, Venturini M, Chiarelli N, Quinzani S, Traversa M, Zoppi N, Vascellaro A, Wischmeijer A, Manfredini E, Garavelli L, Calzavara-Pinton P, et al. 2013. Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations. Orphanet J Rare Dis 8: 58. PubMed ID: 23587214
  • Symoens S, Syx D, Malfait F, Callewaert B, Backer J De, Vanakker O, Coucke P, Paepe A De. 2012. Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria. Hum. Mutat. 33: 14851493. PubMed ID: 22696272
  • Wenstrup RJ, Florer JB, Brunskill EW, Bell SM, Chervoneva I, Birk DE. 2004. Type V Collagen Controls the Initiation of Collagen Fibril Assembly. Journal of Biological Chemistry 279: 5333153337. PubMed ID: 15383546

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

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ORDER OPTIONS

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View Ordering Instructions

1) Select Test Method (Platform)


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.
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