Apparent Mineralocorticoid Excess via the HSD11B2 Gene
Summary and Pricing 
Test Method
Exome Sequencing with CNV Detection
| Test Code | Test Copy Genes | Test CPT Code | Gene CPT Codes Copy CPT Code | Base Price | |
|---|---|---|---|---|---|
| 9969 | HSD11B2 | 81404 | 81404,81479 | $990 | Order Options and Pricing |
Pricing Comments
Our favored testing approach is exome based NextGen sequencing with CNV analysis. This will allow cost effective reflexing to PGxome or other exome based tests. However, if full gene Sanger sequencing is desired for STAT turnaround time, insurance, or other reasons, please see link below for Test Code, pricing, and turnaround time information. If the Sanger option is selected, CNV detection may be ordered through Test #600.
An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.
Click here for costs to reflex to whole PGxome (if original test is on PGxome Sequencing platform).
Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing platform).
The Sanger Sequencing method for this test is NY State approved.
For Sanger Sequencing click here.Turnaround Time
3 weeks on average for standard orders or 2 weeks on average for STAT orders.
Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.
Targeted Testing
For ordering sequencing of targeted known variants, go to our Targeted Variants page.
Clinical Features and Genetics
Clinical Features
Apparent mineralocorticoid excess (OMIM# 218030) is an inherited form of low-renin hypertension characterized by hypernatremia, hypokalemia, low aldosterone and metabolic alkalosis (Mune et al. 1995; Stewart et al. 1996). Common features of this inborn error include low birth weight, failure to thrive, poor growth, polydipsia and polyuria. This condition usually responds to spironolactone or a low sodium diet.
Genetics
Apparent mineralocorticoid excess is an autosomal recessive disorder caused by defects in the HSD11B2 gene (Mune et al. 1995; Stewart et al. 1996). HSD11B2 has 5 coding exons that encode 11-beta-hydroxysteroid dehydrogenase type 2. This enzyme converts cortisol to inactive cortisone and thereby protects the mineralocorticoid receptor from inappropriate activation by cortisol. Genetic defects of HSD11B2 throughout the whole coding region include missense (about 50%), nonsense, splicing site mutations, and small deletions/insertions (Human Gene Mutation Database). Exon-level large deletions involving HSD11B2 have not been reported.
Clinical Sensitivity - Sequencing with CNV PGxome
Individual studies of the HSD11B2 gene in patients with apparent mineralocorticoid excess have been limited to small numbers of patients. Mune et al. (1995) found pathogenic variants in HSD11B2 on both chromosomes in patients with apparent mineralocorticoid excess from 8 out of 9 families (Mune et al. 1995).
Testing Strategy
This test provides full coverage of all coding exons of the HSD11B2 gene plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define full coverage as >20X NGS reads or Sanger sequencing. PGnome panels typically provide slightly increased coverage over the PGxome equivalent. PGnome sequencing panels have the added benefit of additional analysis and reporting of deep intronic regions (where applicable).
Dependent on the sequencing backbone selected for this testing, discounted reflex testing to any other similar backbone-based test is available (i.e., PGxome panel to whole PGxome; PGnome panel to whole PGnome).
Indications for Test
Candidates for this test are patients with apparent mineralocorticoid excess. Patients with low-renin essential hypertension are also recommended to have genetic analysis of the HSD11B2 gene (Wilson et al. 1998). Additionally, testing is indicated for family members of patients who have known HSD11B2 mutations. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in HSD11B2.
Candidates for this test are patients with apparent mineralocorticoid excess. Patients with low-renin essential hypertension are also recommended to have genetic analysis of the HSD11B2 gene (Wilson et al. 1998). Additionally, testing is indicated for family members of patients who have known HSD11B2 mutations. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in HSD11B2.
Gene
| Official Gene Symbol | OMIM ID |
|---|---|
| HSD11B2 | 614232 |
| Inheritance | Abbreviation |
|---|---|
| Autosomal Dominant | AD |
| Autosomal Recessive | AR |
| X-Linked | XL |
| Mitochondrial | MT |
Disease
| Name | Inheritance | OMIM ID |
|---|---|---|
| Apparent Mineralocorticoid Excess | AR | 218030 |
Citations
- Human Gene Mutation Database (Bio-base).
- Mune T, Rogerson FM, Nikkilä H, Agarwal AK, White PC. 1995. Human hypertension caused by mutations in the kidney isozyme of 11 beta-hydroxysteroid dehydrogenase. Nat. Genet. 10: 394-399. PubMed ID: 7670488
- Stewart PM, Krozowski ZS, Gupta A, Milford DV, Howie AJ, Sheppard MC, Whorwood CB. 1996. Hypertension in the syndrome of apparent mineralocorticoid excess due to mutation of the 11 beta-hydroxysteroid dehydrogenase type 2 gene. Lancet 347: 88-91. PubMed ID: 8538347
- Wilson RC, Dave-Sharma S, Wei JQ, Obeyesekere VR, Li K, Ferrari P, Krozowski ZS, Shackleton CH, Bradlow L, Wiens T, New MI. 1998. A genetic defect resulting in mild low-renin hypertension. Proc. Natl. Acad. Sci. U.S.A. 95: 10200-10205. PubMed ID: 9707624
Ordering/Specimens
Ordering Options
We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.
myPrevent - Online Ordering
- The test can be added to your online orders in the Summary and Pricing section.
- Once the test has been added log in to myPrevent to fill out an online requisition form.
- PGnome sequencing panels can be ordered via the myPrevent portal only at this time.
Requisition Form
- A completed requisition form must accompany all specimens.
- Billing information along with specimen and shipping instructions are within the requisition form.
- All testing must be ordered by a qualified healthcare provider.
For Requisition Forms, visit our Forms page
If ordering a Duo or Trio test, the proband and all comparator samples are required to initiate testing. If we do not receive all required samples for the test ordered within 21 days, we will convert the order to the most effective testing strategy with the samples available. Prior authorization and/or billing in place may be impacted by a change in test code.
Specimen Types
Specimen Requirements and Shipping Details
PGxome (Exome) Sequencing Panel
PGnome (Genome) Sequencing Panel
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ORDER OPTIONS
View Ordering Instructions1) Select Test Type
2) Select Additional Test Options
No Additional Test Options are available for this test.