Pseudohypoaldosteronism, type IIE
GTR Test Accession: Help GTR000503778.1
INHERITED DISEASEURINARY SYSTEM DISEASE
Last updated in GTR: 2013-06-25
Last annual review date for the lab: 2023-10-05 LinkOut
At a Glance
Diagnosis; Mutation Confirmation; Risk Assessment; ...
Pseudohypoaldosteronism type 2E
Genes (1): Help
CUL3 (2q36.2)
Molecular Genetics - Sequence analysis of the entire coding region: Bi-directional Sanger Sequence Analysis
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
Laboratory for Molecular Diagnostics
View lab's website
View lab's test page
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Physician Assistant
Lab contact: Help
Mato Nagel, MD, Medical Director
nagel@moldiag.de
+49 3576287922
Contact Policy: Help
Post-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
How to Order: Help
To order a test please send an e-mail to nagel@moldiag.de or to labor@moldiag.de. The request forms are available for download as a PDF documents by selecting the disease or gene on the website http://www.moldiag.de/en/. The forms may also be requested by sending an email to labor@moldiag.de. General price list is …
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Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings
Custom Deletion/Duplication Testing
Custom Sequence Analysis
Data Storage and Backup
Result interpretation
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
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
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
Applied Biosystem Genetic Analyzer 3130xl
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Risk Assessment; Screening
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
Software: Mutation t@ster und PolyPhen-2

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes.
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
The sensitivity of DNA sequencing is over 99% for the detection of nucleotide base changes, small deletions and insertions in the regions analyzed.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
VUS:
Software used to interpret novel variations Help
Software: Mutation t@ster und PolyPhen-2
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: Not Applicable
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.