Classic view of this page
Familial hyperaldosteronism type I (Chimeric CYP11B1/CYP11B2 gene)
Clinical Genetic Test
Help
offered by
Molecular Genetics and Cytogenetics, Clinical Laboratory Service
GTR Test Accession: Help GTR000568366.3
INHERITED DISEASEENDOCRINOLOGY
Last updated in GTR: 2020-08-10
View version history
Last annual review date for the lab: 2024-07-31 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation
Conditions (1): Help
Glucocorticoid-remediable aldosteronism
Genes (2): Help
CYP11B1 (8q24.3); CYP11B2 (8q24.3)
Methods (1): Help
Molecular Genetics - Targeted variant analysis: PCR
Target population: Help
Not provided
Clinical validity: Help
FH-I is due to presence of chimeric CYP11B1/CYP11B2 gene. Therefore, …
Clinical utility: Help
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Molecular Genetics and Cytogenetics, Clinical Laboratory Service
View lab's website
Test short name: Help
CYP11B1/CYP11B2
Specimen Source: Help
  • Buccal swab
  • Isolated DNA
  • Peripheral (whole) blood
  • Saliva
Who can order: Help
  • Licensed Physician
Test Order Code: Help
2606
Lab contact: Help
Marcela Lagos, MD, Lab Director
[email protected]
+56 223548515
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.
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
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:
How to Order, Test strategy, Test development
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 2
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Targeted variant analysis
PCR
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation
Clinical validity: Help
FH-I is due to presence of chimeric CYP11B1/CYP11B2 gene. Therefore, in > 99% of patients with FH-1 the chimeric gene is present. In the hypertensive adult population, this monogenic form of aldosteronism is thought to account for 0.5% to 1.0% of primary aldosteronism.
View citations (1)
  • Aglony M, Martínez-Aguayo A, Carvajal CA, Campino C, García H, Bancalari R, Bolte L, Avalos C, Loureiro C, Trejo P, Brinkmann K, Giadrosich V, Mericq V, Rocha A, Avila A, Perez V, Inostroza A, Fardella CE. Frequency of familial hyperaldosteronism type 1 in a hypertensive pediatric population: clinical and biochemical presentation. Hypertension. 2011;57(6):1117-21. doi:10.1161/HYPERTENSIONAHA.110.168740. Epub 2011 Apr 18. PMID: 21502562.
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)
  • Glucocorticoid remediable aldosteronism (GRA) screening in hypertensive patients from a primary care setting. Pizzolo F, et al. J Hum Hypertens. 2005;19(4):325-7. doi:10.1038/sj.jhh.1001821. PMID: 15660117.

Variant Interpretation:
Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Decline to answer.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Decline to answer.
Recommended fields not provided:
Target population, What is the protocol for interpreting a variation as a VUS?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Two healthy control samples and one sample from a patient with familial hyperaldosteronism type 1 (FH-1) were analyzed. In the patient the chimeric CYP11B1 / CYP11B2 gene was detected and in the control subjects it was not detected.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, PT Provider, 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.