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Kindler Syndrome via the FERMT1 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
8105 FERMT1 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8105FERMT181479 81479(x2) $890 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 backbone).

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

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

For Sanger Sequencing click here.

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.


Genetic Counselors


  • Stela Berisha, PhD, FACMG

Clinical Features and Genetics

Clinical Features

Kindler syndrome is the fourth major subtype of epidermolysis bullosa, which is characterized by congenital blistering, skin atrophy, photosensitivity, and skin fragility (Fine et al. 2008. PubMed ID: 18374450; Fine et al. 2014. PubMed ID: 24690439). Other features include palmoplantar keratoderma, gingival erosions, and ocular, esophageal, gastrointestinal and urogenital involvement. Patients with Kindler syndrome are also at risk to develop mucocutaneous malignancy (Lai-Cheong et al. 2010. PubMed ID: 19945624).


Kindler syndrome is an autosomal recessive disorder caused by variants in FERMT1. Kindlin-1 (fermitin family homologue 1), encoded by FERMT1, is a membrane-associated structural/signaling protein involved in integrin signaling and linking the actin cytoskeleton to the extracellular matrix. It is a key protein component for normal adhesion of keratinocytes to fibronectin and laminin. To date, more than 80 distinct pathogenic variants have been documented (Human Gene Mutation Database). The majority of the reported causative variants are nonsense variants (except for two missense variants). There have also been reports of small and gross deletions, insertions, duplications as well as splicing variants. Additionally, one Alu element insertion involving FERMT1 has been reported (Jobard et al. 2003. PubMed ID: 12668616; Has et al. 2011. PubMed ID: 21936020; Lai-Cheong et al. 2010. PubMed ID: 19945624; Youssefian et al. 2015. PubMed ID: 25599393; Vahidnezhad et al. 2017. PubMed ID: 28830826).

Clinical Sensitivity - Sequencing with CNV PGxome

Ashton et al. found 17 different loss-of-function FERMT1 variants in 41 clinically diagnosed Kindler syndrome families (Ashton et al. 2004. PubMed ID: 14987263). Youssefian et al. identified FERMT1 pathogenic variants in 11 out of 13 families affected with Kindler syndrome (Youssefian et al. 2015. PubMed ID: 25599393).

Testing Strategy

This test provides full coverage of all coding exons of the FERMT1 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 Kindler syndrome, and the family members of patients who have known FERMT1 variants. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in FERMT1.


Official Gene Symbol OMIM ID
FERMT1 607900
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Kindler's Syndrome AR 173650

Related Tests

Ectodermal Dysplasia/Skin Fragility Syndrome via the PKP1 Gene
Epidermolysis Bullosa Simplex (EBS) via the KRT14 Gene
Epidermolysis Bullosa Simplex (EBS) via the KRT5 Gene
Epidermolysis Bullosa with Pyloric Atresia via the ITGA6 Gene
Junctional Epidermolysis Bullosa via the COL17A1 Gene


  • Ashton et al. 2004. PubMed ID: 14987263
  • Fine et al. 2008. PubMed ID: 18374450
  • Fine et al. 2014. PubMed ID: 24690439
  • Has et al. 2011. PubMed ID: 21936020
  • Human Gene Mutation Database (Bio-base).
  • Jobard et al. 2003. PubMed ID: 12668616
  • Lai-Cheong et al. 2010. PubMed ID: 19945624
  • Vahidnezhad et al. 2017. PubMed ID: 28830826
  • Youssefian et al. 2015. PubMed ID: 25599393


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 (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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