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Dystrophic Epidermolysis Bullosa (DEB) via the COL7A1 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
COL7A1 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
7609COL7A181479 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.


Genetic Counselors


  • Stela Berisha, PhD, FACMG

Clinical Features and Genetics

Clinical Features

Dystrophic Epidermolysis Bullosa (DEB) is a clinically heterogeneous skin separation disorder caused by mutations in the COL7A1 gene. DEB is characterized by blister formation induced by mild trauma. Autosomal recessive DEB (RDEB; OMIM#226600) can be further divided into severe generalized RDEB (also called Hallopeau-Siemens type) and generalized, not severe RDEB (also called non-Hallopeau-Siemens type). Severe generalized RDEB is the most severe form of DEB, where blisters may develop in the neonatal period and affect the whole body. Erosions and fusions can lead to restrictions in oral, corneal, esophageal, and lung tissue. Pseudosyndactly caused by extensive blistering and erosion can be a hallmark of severe generalized RDEB. Autosomal dominant DEB (DDEB; OMIM#131750) is the second most common subtype of epidermolysis bullosa, where the dystrophic nails may be the only manifestation in some of the DDEB patients, and blisters tend to be mild and localized to hands, knees and elbows. DEB patients are at high risk to develop squamous cell carcinoma (Fine et al. J Am Acad Dermatol 58: 931- 950, 2008; Pfendner et al. GeneReview, 2010; Intong et al. Clinics in Dermatology 30:70-77, 2012). In addition to DEB, mutations in COL7A1 also cause other DEB-related disorders including epidermolysis bullosa, BART type (OMIM#132000), epidermolysis bullosa pruriginosa (OMIM#604129), epidermolysis bullosa, pretibial (OMIM#131850), toenail dystrophy, isolated (OMIN#607523) and transient bullous of the newborn (OMIM#131705).


Collagen VII, a homotrimer of three α1 (VII) chains, is the major component of anchoring fibrils in the basal membrane zone of skin and cornea. It contains a central collagenous triple helical domain which is flanked by a large amino terminus (NC1) and a small carboxyl terminus (NC2) noncollagenous domain. Through the NC1 domain, Collagen VII interacts with various adhesive proteins including fibronectin, laminin 5 and type I and type IV collagens to bridge the dermo-epidermal connection (Keene et al. J of Cell Biology 104:611-621, 1987; Chen et al., J Bio Chem 272:14516-14522, 1997). The penetrance of DEB is less than 100% (Hilal et al. Nat Genet 5: 287-293, 1993; Christiano et al. Nat Genet 4: 62, 1993; Pulkkinen and Uitto. Matrix Biology 18:29-42, 1999; Varki et al. J Med Genet 44:181–192, 2007 and Pfendner et al. GeneReview, 2010). To date, more than 600 distinct mutations have been documented in (Human Gene Mutation Database). Causative mutations include missense, nonsense, splicing mutations and small insertions/deletions. Only 10 large genome rearrangements involving COL7A1 were reported. In addition, one DEB case with maternal COL7A1 UPD was reported (Fassihi et al. J Invest Dermatol 126, 2039–2043, 2006). Approximately 75% of the DDEB mutations occur in exons 73–75; while RDEB are caused by truncated mutations scattered throughout COL7A1 (Varki et al., 2007; Pfendner et al. GeneReview, 2010).

Clinical Sensitivity - Sequencing with CNV PG-Select

Mutations in the COL7A1 gene can be found in ~95% of DEB patients diagnosed with skin biopsy (Pfendner et al. GeneReviews, 2010).

To date, more than 600 distinct mutations have been documented in COL7A1 (Human Gene Mutation Database). Causative mutations include missense, nonsense, splicing mutations and small insertions/deletions. Only 10 large genome rearrangements involving COL7A1 were reported. In addition, one DEB case with maternal COL7A1 UPD was reported (Fassihi et al. J Invest Dermatol 126, 2039–2043, 2006).

Testing Strategy

This test provides full coverage of all coding exons of the COL7A1 gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

Indications for Test

Individuals with clinical features consistent with DEB and DEB-related disorders. Individuals diagnosed by a skin biopsy showing abnormal or reduced Collagen VII expression are preferred (Varki et al., 2007). This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in COL7A1.


Official Gene Symbol OMIM ID
COL7A1 120120
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


  • Chen, M. et al. (1997). "Interactions of the amino-terminal noncollagenous (NC1) domain of type VII collagen with extracellular matrix components. A potential role in epidermal-dermal adherence in human skin." J Biol Chem 272(23): 14516-22. PubMed ID: 9169408
  • Christiano, A. M. et al. (1993). "A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa." Nat Genet 4(1): 62-6.  PubMed ID: 8513326
  • Fassihi et al. (2006). J Invest Dermato 126, 2039–2043.
  • Fassihi, H. et al. (2006). "Complete maternal isodisomy of chromosome 3 in a child with recessive dystrophic epidermolysis bullosa but no other phenotypic abnormalities." J Invest Dermatol 126(9): 2039-43. PubMed ID: 16710310
  • Fine et al. (2008). "The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB." J Am Acad Derm 58(6):931-950. PubMed ID: 18374450
  • Hilal, L. et al. (1993). "A homozygous insertion-deletion in the type VII collagen gene (COL7A1) in Hallopeau-Siemens dystrophic epidermolysis bullosa." Nat Genet 5(3): 287-93. PubMed ID: 8275094
  • Human Gene Mutation Database (Bio-base).
  • Intong and Murrell. (2012). "Inherited epidermolysis bullosa: new diagnostic criteria and classification." Clin Dermatol 30(1):70-77. PubMed ID: 22137229
  • Keene, D. R.  et al. (1987). "Type VII collagen forms an extended network of anchoring fibrils." J Cell Biol 104(3): 611-21. PubMed ID: 3818794
  • Pfendner, E. G. and A. W. Lucky (2010). "Dystrophic Epidermolysis Bullosa." GeneReviews. PubMed ID: 20301481
  • Pulkkinen and Uitto. (1999). "Mutation analysis and molecular genetics of epidermolysis bullosa." Matrix Biol. 18(1): 29-42. PubMed ID: 10367729
  • Varki, et al. Epidermolysis bullosa. II. (2007). "Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes." J Med Genet 44(3):181-192. PubMed ID: 16971478


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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