Palmoplantar Keratoderma NGS panel

Genes
(full coding
region):		 AAGAB, AQP5, DSG1, KRT1, KRT9, KRT10, KRT16, KRT6C, SERPINB7, SNAP29, TRPV3

List of diseases covered by the panel
Lab method: NGS panel with CNV analysis
TAT: 6-9 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Indications for genetic testing:

  1. Confirmation of clinical diagnosis
  2. Differential diagnosis of palmoplantar keratoderma types/subtypes and other genetically/phenotypically related disorders
  3. Prenatal diagnosis for known familial mutation
  4. Genetic counseling

Palmoplantar keratoderma (PPK) is a group of skin conditions characterized by hyperkeratosis on the surface of the palms of the hands and soles of the feet. Various clinically, histopathologically and genetically distinct phenotypes can be diagnosed. PPK can also be a feature of various underlying syndromes. PPK can be either acquired during the lifetime (more commonly) or inherited. Early onset and positive family history suggest a genetic cause. Inherited PPKs are classified on the basis of the clinical and histological descriptions of the lesions (epidermolytic or nonepidermolytic hyperkeratosis), the mode of inheritance (e.g. autosomal dominant or recessive), the age of onset, the presence of other skin lesions, the association with systemic anomalies, the biochemical defect, and/or the genetic mutation.

The test covers known genetic causes of PPK types/ subtypes and a range of other genetically/ phenotypically related disorders.

Depending on the gene involved, it could be inherited in an autosomal dominant or autosomal recessive pattern.

The incidence and prevalence of hereditary PPK are not available. The most types of hereditary PPK are rare, but the actual number of affected individuals may be underestimated because of mild symptoms, leading to fewer laboratory‐confirmed cases.

References:
Bodemer C, Steijlen P, Mazereeuw-Hautier J, O’Toole EA. Treatment of hereditary palmoplantar keratoderma: a review by analysis of the literature [published online ahead of print, 2020 Apr 20]. Br J Dermatol. 2020;10.1111/bjd.19144. doi:10.1111/bjd.19144. PMID: 32307694
Has C, Technau-Hafsi K. Palmoplantar keratodermas: clinical and genetic aspects. J Dtsch Dermatol Ges. 2016;14(2):123-140. doi:10.1111/ddg.12930. PMID: 26819106
Hennies HC, Küster W, Mischke D, Reis A. Localization of a locus for the striated form of palmoplantar keratoderma to chromosome 18q near the desmosomal cadherin gene cluster. Hum Mol Genet. 1995;4(6):1015-1020. doi:10.1093/hmg/4.6.1015. PMID: 7544663