Junctional Epidermolysis Bullosa via the LAMC2 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
7725 LAMC2 81479 81479,81479 $640 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
7725LAMC281479 81479(x2) $640 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.

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

  • Stela Berisha, PhD, FACMG

Clinical Features and Genetics

Clinical Features

Junctional epidermolysis bullosa (JEB), a clinically and genetically heterogeneous skin/mucosa separation disorder, is characterized by blister formation induced by minimal mechanical trauma. Mutations in LAMC2 comprise ~9% of pathogenic mutations related to the two major types of JEB (Herlitz JEB, also called neonatal lethal JEB; OMIM#226700) and (Non-Herlitz JEB; OMIM#226650). In Herlitz JEB, blisters occur at birth or neonatal period and are prone to form erosions and granulations in oral, corneal, esophageal and lung tissues, causing restriction of these organs. Patients often die during first year of life due to complications of dehydration, anemia and sepsis. In non-Herlitz JEB, blisters develop relatively late with less involvement from other organs. However, clinical manifestations are highly variable and significantly overlap among different types of epidemolysis bullosa (EB). Therefore, clinically suspected EB patients can be evaluated by skin biopsy to help with clinical diagnosis and direct genetic testing (Fine et al. J Am Acad Derm 58:931-950, 2008; Pfendner et al. GeneReview, 2008; Laimer et al. Dermatol Clin 28:55–60, 2010).

Genetics

LAMC2 codes the γ chain of Laminin 5 protein (Laminin-332), a component of anchoring filaments in basal membrane zone of skin. LAMC2 mutations cause autosomal recessive JEB with complete penetrance. So far, all of the 35 reported LAMC2 mutations are truncating mutations (nonsense, frameshift and splicing); no missense mutations were reported. The nonsense mutation p.Arg95Stop was predominantly seen among Italian patents. Uniparental disomy and chromosome rearrangement have been reported (Takizawa et al. J Invest Dermatology 115:307-311, 2000; Posteraro et al. J Invest Dermatology, 123:639–648, 2004; Pfendner et al, 2008).

Clinical Sensitivity - Sequencing with CNV PG-Select

Detection rate should be high in biopsy confirmed JEB patients with either reduced or absent Laminin5 expression, who have no mutations in LAMB2 or LAMA3.

Testing Strategy

This test provides full coverage of all coding exons of the LAMC2 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 H-JEB, Non-Herlitz JEB. Individuals diagnosed with skin biopsy by transmission electron microscopy or immunoflurocence staining are preferred. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in LAMC2.

Gene

Official Gene Symbol OMIM ID
LAMC2 150292
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Related Tests

Name
Amelogenesis Imperfecta Panel
Junctional Epidermolysis Bullosa via the COL17A1 Gene

Citations

  • 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
  • Laimer et al. Herlitz junctional epidermolysis bullosa. Dermatol Clin 28(1):55-60, 2010. PubMed ID: 19945616
  • Pfendner et al. Junctional Epidermolysis Bullosa. GeneReviews, 2008 PubMed ID: 20301304
  • Posteraro et al. Laminin-5 mutational analysis in an Italian cohort of patients with junctional epidermolysis bullosa. J Invest Dermatology 123(4):639–648, 2004. PubMed ID: 15373767
  • Takizawa et al. Mutation report: complete paternal uniparental isodisomy of chromosome 1: a novel mechanism for Herlitz junctional epidermolysis bullosa. J Invest Dermatology 115(2):307-311, 2000. PubMed ID: 10951251

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

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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