Primary Aldosteronism via CACNA1H Gene
Summary and Pricing 
Test Method
Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes| Test Code | Test Copy Genes | Test CPT Code | Gene CPT Codes Copy CPT Code | Base Price | |
|---|---|---|---|---|---|
| 4955 | CACNA1H | 81479 | 81479,81479 | $990 | Order Options and Pricing |
Pricing Comments
Testing run on PG-select capture probes includes CNV analysis for the gene(s) on the panel but does not permit the optional add on of exome-wide CNV analysis. Any of the NGS platforms allow reflex to other clinically relevant genes, up to whole exome or whole genome sequencing depending upon the base platform selected for the initial test.
An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.
This test is also offered via a custom panel (click here) on our exome or genome backbone which permits the optional add on of exome-wide CNV or genome-wide SV analysis.
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
Primary aldosteronism is characterized by a constitutive overproduction of aldosterone (Dutta et al. 2016; Mulatero et al. 2013). It is the most common form of secondary hypertension and affects 8–13% of patients with hypertension. The two most common causes of primary aldosteronism are aldosterone-producing adenoma (APA) and bilateral adrenal hyperplasia (BAH).
In addition to familial hyperaldosteronism types I, II and III, germline pathogenic variants in genes encoding voltage-gated calcium channels (CACNA1D and CACNA1H) can cause primary aldosteronism with or without neuromuscular abnormalities. In particular, compared with CACNA1D-causative primary aldosteronism, patients with CACNA1H defects present hypertension by age 10 years followed by no seizures or neurologic abnormalities (Scholl et al. 2015).
Genetics
Germline pathogenic variants causing primary aldosteronism with autosomal dominant inheritance have been found in the CYP11B2, KCNJ5, CACNA1D and CACNA1H genes (Dutta et al. 2016; Mulatero et al. 2013).
To date, only a very limited number of germline missense changes have been found in CACNA1H in patients with primary aldosteronism (Scholl et al. 2015). CACNA1H encodes the α1 subunit of the T-type voltage calcium channel.
Clinical Sensitivity - Sequencing with CNV PG-Select
Scholl et al. performed exome sequencing in 40 unrelated individuals with hypertension due to primary aldosteronism with onset age by 10 years (Scholl et al. 2015). In these patients who were negative for pathogenic variants in the CYP11B2, KCNJ5, and CACNA1D genes, five probands were found to have a heterozygous missense pathogenic variant in the CACNA1H gene.
Testing Strategy
This test provides full coverage of all coding exons of the CACNA1H gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.
Indications for Test
Candidates for this test are patients with hereditary primary aldosteronism.
Candidates for this test are patients with hereditary primary aldosteronism.
Gene
| Official Gene Symbol | OMIM ID |
|---|---|
| CACNA1H | 607904 |
| Inheritance | Abbreviation |
|---|---|
| Autosomal Dominant | AD |
| Autosomal Recessive | AR |
| X-Linked | XL |
| Mitochondrial | MT |
Disease
| Name | Inheritance | OMIM ID |
|---|---|---|
| Hyperaldosteronism, Familial, Type IV | AD | 617027 |
Citations
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
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ORDER OPTIONS
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