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Peeling Skin Syndrome via the TGM5 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
TGM5 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8253TGM581479 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

Peeling skin syndrome is characterized by peeling of the outer skin layer. Acral peeling skin syndrome mainly affects the dorsa of the hands and feet. Ultrastructural analysis showed that tissue separation occurred at the junction between the granular cells and the stratum corneum in the outer epidermis. The symptoms can present shortly after birth or early childhood. The skin lesions usually heal without scarring (Cassidy et al. 2005. PubMed ID: 16380904; van der Velden et al. 2015. PubMed ID: 25644735). Peeling skin syndrome is in the differential diagnosis of epidermolysis bullosa (Vahidnezhad et al. 2017. PubMed ID: 28830826).


TGM5-related acral peeling skin syndrome is inherited in an autosomal recessive manner. The TGM5 (transglutaminase 5) protein encoded by the TGM5 gene plays a key role in the formation of the cornified cell envelope in the epidermis of the skin. About 30 unique TGM5 pathogenic variants have been reported. The majority of them are missense. Only 6 are truncating variants caused by nonsense variants, small frameshift deletions, small indel and small frameshift duplication (Szczecinska et al. 2014. PubMed ID: 24628291; van der Velden et al. 2015. PubMed ID: 25644735; Kope?ková et al. 2016. PubMed ID: 26707537; Human Genome Mutation Database). The c.337G>T (p.Gly113Cys) variant was observed in mostly European patients, possibly due to a founder effect (Szczecinska et al. 2014. PubMed ID: 24628291; van der Velden et al. 2015. PubMed ID: 25644735).

Clinical Sensitivity - Sequencing with CNV PGxome

TGM5 pathogenic variants were detected in 94 out of 103 patients (van der Velden et al. 2015. PubMed ID: 25644735). It is estimated that ~5% of epidermolysis bullosa cases are attributed to TGM5 pathogenic variants (Pfendner et al. 2016. PubMed ID: 20301543).

No large deletions or duplications have been reported in the TGM5 gene to date (Human Genome Mutation Database).

Testing Strategy

This test provides full coverage of all coding exons of the TGM5 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 autosomal recessive peeling skin syndrome or epidermolysis bullosa. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in TGM5.


Official Gene Symbol OMIM ID
TGM5 603805
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Peeling Skin Syndrome, Acral Type AR 609796


  • Cassidy et al. 2005. PubMed ID: 16380904
  • Human Gene Mutation Database (Bio-base).
  • Kopecková et al. 2016. PubMed ID: 26707537
  • Pfendner et al. 2016. PubMed ID: 20301543
  • Szczecinska et al. 2014. PubMed ID: 24628291
  • Vahidnezhad et al. 2017. PubMed ID: 28830826
  • van der Velden et al. 2015. PubMed ID: 25644735


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

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

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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