Ehlers-Danlos Syndrome, Classic Type via the COL5A2 Gene
Summary and Pricing 
Test Method
Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes
| Test Code | Test Copy Genes | Test CPT Code | Gene CPT Codes Copy CPT Code | Base Price | |
|---|---|---|---|---|---|
| 3167 | COL5A2 | 81479 | 81479,81479 | $990 | Order Options and Pricing |
Pricing Comments
Testing run on PG-select capture probes includes CNV analysis for the gene(s) on the panel but does not permit the optional add on of exome-wide CNV analysis. Any of the NGS platforms allow reflex to other clinically relevant genes, up to whole exome or whole genome sequencing depending upon the base platform selected for the initial test.
An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.
This test is also offered via a custom panel (click here) on our exome or genome backbone which permits the optional add on of exome-wide CNV or genome-wide SV analysis.
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.
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 ~20 unique pathogenic variants found in in COL5A2. They are: missense mutations (33%, all affect a Glycine residue), splicing (48%), and small deletion (19%) (Human Gene Mutation Database).
Clinical Sensitivity - Sequencing with CNV PG-Select
Combining COL5A1 and COL5A2, this test is predicted to detect disease mutations in at least 50% of affected individuals with classic EDS (Malfait et al. GeneReviews 2011).
No large deletions/duplications have been reported in COL5A2 (Human Gene Mutation Database).
Testing Strategy
This test provides full coverage of all coding exons of the COL5A2 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 COL5A2 mutations.
Candidates for this test are patients with clinical features consistent with EDS, classic type, and family members of patients who have known COL5A2 mutations.
Gene
| Official Gene Symbol | OMIM ID |
|---|---|
| COL5A2 | 120190 |
| Inheritance | Abbreviation |
|---|---|
| Autosomal Dominant | AD |
| Autosomal Recessive | AR |
| X-Linked | XL |
| Mitochondrial | MT |
Diseases
| Name | Inheritance | OMIM ID |
|---|---|---|
| Ehlers-Danlos Syndrome, Type 1 | AD | 130000 |
| Ehlers-Danlos Syndrome, Type 2 | AD | 130010 |
Related Test
| Name |
|---|
| Comprehensive Cardiology Panel |
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: 17–23. 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: 597–605. 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
- 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: 53331–53337. 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
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
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ORDER OPTIONS
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2) Select Additional Test Options
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