Primary Aldosteronism via CACNA1D Gene

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
4957 CACNA1D 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
4957CACNA1D81479 81479(x2) $890 Order Options and Pricing

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 backbone).

Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing backbone).

Turnaround Time

18 days on average for standard orders or 13 days 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.

EMAIL CONTACTS

Genetic Counselors

Geneticist

  • Angela Gruber, PhD

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, patients with CACNA1D-causative primary aldosteronism present early onset (at birth) hypertension followed by seizures and neurologic abnormalities (global developmental delay and severe generalized intellectual disability) (Scholl et al. 2013).

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 CACNA1D in patients with primary aldosteronism (Scholl et al. 2013). CACNA1D encodes the α1 subunit of L-type voltage calcium channel.

Clinical Sensitivity - Sequencing with CNV PGxome

Scholl et al. sequenced the CACNA1D gene in 100 unrelated individuals with unexplained early-onset primary aldosteronism and identified two girls with de novo heterozygous gain-of-function missense pathogenic variants (Scholl et al. 2013).

Testing Strategy

This test provides full coverage of all coding exons of the CACNA1D 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 hereditary primary aldosteronism.

Gene

Official Gene Symbol OMIM ID
CACNA1D 114206
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Citations

  • Dutta et al. 2016. PubMed ID: 27485459
  • Mulatero et al. 2013. PubMed ID: 23229280
  • Scholl et al. 2013. PubMed ID: 23913001

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


Specimen Types

Specimen Requirements and Shipping Details

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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ORDER OPTIONS

View Ordering Instructions

1) Select Test Method (Backbone)


1) Select Test Type


2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
Total Price: $
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