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Epidermolysis Bullosa with Pyloric Atresia via the ITGA6 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
8033 ITGA6 81479 81479,81479 $990 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8033ITGA681479 81479,81479 $990 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 platform).

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

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

For Sanger Sequencing click here.

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

Epidermolysis Bullosa with Pyloric Atresia (OMIM# #226730) is skin separation disorder characterized by congenital blistering, skin atrophy, and skin fragility. Other features in this syndrome include congenital pyloric atresia, ureterovesical stenosis, pyelonephrosis, esophageal atresia, congenital cutis aplasia, arthrogryposis (Fine et al. J Am Acad Derm 58:931-950, 2008; Varki et al. J Med Genet 43: 641-652, 2006; Pfendner et al., GeneReviews, 2013).


Epidermolysis bullosa with pyloric atresia is an autosomal recessive disorder caused by mutations in the ITGB4, ITGA6, and PLEC genes. Intergrin, alpha 6, encoded by ITGA6 (OMIM#147556), is a receptor for laminin and belongs to the integrin family that regulates the cell-cell adhesion and cell-matrix adhesion. Intergrin, alpha 6 and Intergrin, beta 4 form a heterodimer complex (α6β4 integrin protein) in the hemidesmosome of epithelial cells, which help to hold the layers of skin together. To date, only five mutations have been documented in HGMD (Human Gene Mutation Database) including missense (1/5), nonsense (1/5), splicing (1/5), and small deletions (2) (Pfender, 2013). No large insertion/deletions in ITGA6 have been reported.

Clinical Sensitivity - Sequencing with CNV PGxome

ITGA6 mutations account for ~5% of epidermolysis bullosa with pyloric atresia cases diagnosed by skin biopsy (Pfendner et al., GeneReviews, 2013). Large insertion/deletions in ITGA6 have not been reported (Human Gene Mutation Database).

Testing Strategy

This test provides full coverage of all coding exons of the ITGA6 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 symptoms consistent with epidermolysis bullosa with pyloric atresia and the family members of patients who have known ITGA6 mutations. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in ITGA6.


Official Gene Symbol OMIM ID
ITGA6 147556
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Epidermolysis Bullosa With Pyloric Atresia AR 226730


  • Fine et al. (2008). PubMed ID: 18374450
  • Human Gene Mutation Database (Bio-base).
  • Pfendner et al. (2013). “Epidermolysis Bullosa with Pyloric Atresia.”  Genereview. PubMed ID: 20301336
  • Varki et al. (2006). PubMed ID: 16473856


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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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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