Nagashima-type palmoplantar keratosis,NPPK
Conditions
Interventions
Gold Standard:Next-generation sequencing combined with Sanger sequencing
Index test:Quantitative PCR based amplification refractory mutation system
Sponsors
Hospital for Skin Diseases, Institute of Dermatology, Chinese Academy of Medical Sciences
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1. Patients clinically diagnosed with NPPK, healthy individuals (core family members of NPPK patients or those without clinical manifestations of NPPK); 2. No restrictions on gender or age.
Exclusion criteria
Exclusion criteria: 1. Patients with severe comorbidities (e.g., heart, liver, kidney, or hematologic diseases) that may increase sample collection risks; 2. Pregnant or breastfeeding individuals; 3. Individuals unable to read or understand the consent form; 4. Individuals with mental or cognitive impairments; 5. Patients receiving treatments that may affect test results (e.g., gene therapy or large - volume blood transfusions).
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| ARMS-qPCR genotyping results;Genotyping results of Sanger sequencing combined with NGS ;Ct values from ARMS-qPCR assay; | — |
Secondary
| Measure | Time frame |
|---|---|
| Turnaround time;Cost-effectiveness; | — |
Countries
China
Contacts
Public ContactZhiming Chen
Hospital for Skin Diseases, Institute of Dermatology, Chinese Academy of Medical Sciences
Outcome results
None listed