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Pyogenic arthritis, pyoderma gangrenosum (PG) and acne
Clinical Genetic Test
Help
offered by
Inflammatory Disease Section/Clinical Genetics Service
GTR Test Accession: Help GTR000607950.3
CONNECTIVE TISSUESYNDROMIC DISEASE
Last updated in GTR: 2024-07-08
View version history
Last annual review date for the lab: 2024-07-12 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Therapeutic management
Conditions (1): Help
Pyoderma gangrenosum
Genes (1): Help
PSTPIP1 (15q24.3)
Methods (1): Help
Molecular Genetics - Mutation scanning of select exons: Bi-directional Sanger Sequence Analysis
Target population: Help
This disease is reported in patients of various ancestries
Clinical validity: Help
Mutations in the PSTPIP1 gene are found in 20% of …
Clinical utility: Help
Guidance for management
Ordering Information
Offered by: Help
Inflammatory Disease Section/Clinical Genetics Service
Test short name: Help
PAPA
Specimen Source: Help
  • Buccal swab
  • Isolated DNA
  • Peripheral (whole) blood
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
Post-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Genetic counseling
Test additional service: Help
Custom mutation-specific/Carrier testing
Informed consent required: Help
No
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Test Order Code, How to Order, Lab contact for this test, Test strategy, Test development
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument
Mutation scanning of select exons
Bi-directional Sanger Sequence Analysis
ThermoFisher Genetic Analyzer SeqStudio
Clinical Information
Test purpose: Help
Diagnosis; Therapeutic management
Clinical validity: Help
Mutations in the PSTPIP1 gene are found in 20% of cases tested for PAPA
View citations (1)
Clinical utility: Help
Guidance for management
View citations (1)
  • doi: 10.1136/ard-2023-225085

Target population: Help
This disease is reported in patients of various ancestries
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
We suggest testing unaffected parents and siblings for segregation genotyping in the family

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Yes.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes.
Recommended fields not provided:
Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Test Confirmation: Help
Positive results are confirmed on a new DNA preparation from the same blood sample using bi-directional Sanger sequencing.
Test Comments: Help
Bi-directional testing of two exons of the PSTPIP1 gene that harbor all PAPA-associated mutations
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
This test has 99% sensitivity to identify heterozygous missense variants in these two exons.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No

Method used for proficiency testing: Help
Intra-Laboratory

PT Provider: Help
in house DNA samples
VUS:
Software used to interpret novel variations Help
Sequencher

Laboratory's policy on reporting novel variations Help
Novel variants will be reported as VUS until a family based study is completed.
Recommended fields not provided:
Assay limitations, Description of internal test validation method, Citations for Analytical validity, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.