List of diseases covered by Palmoplantar Keratoderma NGS panel

List of diseases covered by Palmoplantar Keratoderma NGS panel

Gene Condition
AAGAB Keratoderma, palmoplantar, punctate type IA
AQP5 Palmoplantar keratoderma, Bothnian type
DSG1 Keratosis palmoplantaris striata I, AD;
Erythroderma, congenital, with palmoplantar keratoderma,
hypotrichosis, and hyper IgE
KRT1 Palmoplantar keratoderma, epidermolytic;
Palmoplantar keratoderma, nonepidermolytic; Epidermolytic hyperkeratosis;
Ichthyosis histrix, Curth-Macklin type;
Ichthyosis, cyclic, with epidermolytic hyperkeratosis;
Keratosis palmoplantaris striata III
KRT9 Palmoplantar keratoderma, epidermolytic
KRT10 Epidermolytic hyperkeratosis;
Ichthyosis with confetti; Ichthyosis, cyclic, with epidermolytic hyperkeratosis
KRT16 Pachyonychia congenita 1;
Palmoplantar keratoderma, nonepidermolytic, focal
KRT6C Palmoplantar keratoderma, nonepidermolytic,
focal or diffuse
SERPINB7 Palmoplantar keratoderma, Nagashima type
SNAP29 Cerebral dysgenesis, neuropathy, ichthyosis,
and palmoplantar keratoderma syndrome
TRPV3 Olmsted syndrome; Palmoplantar keratoderma, nonepidermolytic, focal 2

Palmoplantar Keratoderma NGS panel

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

NGS panel with CNV


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