Primary Pigmented Nodular Adrenocortical Disease via the PDE11A 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 | |
|---|---|---|---|---|---|
| 15271 | PDE11A | 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 pigmented nodular adrenocortical disease (PPNAD) is a rare disorder that causes adrenocorticotropic hormone (ATCH)-independent adrenal hyperplasia resulting in Cushing Syndrome (Manipadam et al. 2011). Cushing syndrome causes the body to have prolonged exposure to cortisol leading to obesity, severe fatigue, weak muscles, high blood pressure, high blood sugar, irritability, and anxiety. Cushing syndrome has a prevalence of 1/26,000, and PPNAD represents 2% of these cases (http://www.orpha.net/). PPNAD is often associated with Carney's complex, however, isolated PPNAD is also known to occur less frequently (Stratakis 2009). In PPNAD, the adrenal glands are small to normal sized and harbor multiple small cortical pigmented nodules. Most cases of PPNAD occur in the second and third decades of life, but it can also occur very early (e.g. 2-3 years of age), and it appears to be more frequent in females (Almeida and Stratakis 2010).
Genetics
Primary pigmented nodular adrenocortical disease is inherited in an autosomal dominant manner and can be caused by germline mutations in the PRKAR1A and PDE11A genes (Gaillard et al. 2010). The PRKAR1A gene encodes a tumor suppressor that acts as a cyclic-AMP-dependent signaling molecule. The signaling molecule phosphorylates many downstream targets that are involved in transcription, metabolism, cell cycle progression and apoptosis (Rothenbuhler and Stratakis 2010). PDE11A catalyzes the hydrolysis of cAMP and cGMP and is expressed in several endocrine tissues (Almeida and Stratakis 2010). Both PDE11A and PRKAR1A repress the activity of protein kinase A, which is involved in cellular proliferation, and both may act in concert, when mutated, to promote adrenal cortical cell proliferation (Bar-Lev and Annes 2012).
Clinical Sensitivity - Sequencing with CNV PG-Select
The clinical sensitivity of PDE11A germline mutations in patients with PPNAD is currently unknown as only a small number of individual cases have been reported.
Testing Strategy
This test is performed using Next-Gen sequencing with additional Sanger sequencing as necessary.
This test provides full coverage of all coding exons of the PDE11A 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.
Indications for Test
Individuals with a clinical presentation of Primary Pigmented Nodular Adrenocortical Disease and individuals with a family history of disease.
Individuals with a clinical presentation of Primary Pigmented Nodular Adrenocortical Disease and individuals with a family history of disease.
Gene
| Official Gene Symbol | OMIM ID |
|---|---|
| PDE11A | 604961 |
| Inheritance | Abbreviation |
|---|---|
| Autosomal Dominant | AD |
| Autosomal Recessive | AR |
| X-Linked | XL |
| Mitochondrial | MT |
Disease
| Name | Inheritance | OMIM ID |
|---|---|---|
| Pigmented Nodular Adrenocortical Disease, Primary, 2 | AD | 610475 |
Citations
- Almeida MQ, Stratakis CA. 2010. Carney complex and other conditions associated with micronodular adrenal hyperplasias. Best Practice & Research Clinical Endocrinology & Metabolism 24: 907–914. PubMed ID: 21115159
- Bar-Lev A, Annes JP. 2012. Genetics of adrenocortical disease: an update. Current Opinion in Endocrinology & Diabetes and Obesity 19: 159–167. PubMed ID: 22476103
- Gaillard RC, Bertherat J, Carney JA. 2010. Familial micronodular adrenocortical disease, Cushing syndrome, and mutations of the gene encoding phosphodiesterase 11A4 (PDE11A). PubMed ID: 20351491
- Manipadam MT, Abraham R, Sen S, Simon A. 2011. Primary pigmented nodular adrenocortical disease. J Indian Assoc Pediatr Surg 16: 160–162. PubMed ID: 22121318
- Orphanet
- Rothenbuhler A, Stratakis CA. 2010. Clinical and molecular genetics of Carney complex. Best Practice & Research Clinical Endocrinology & Metabolism 24: 389–399. PubMed ID: 20833331
- Stratakis CA. 2009. New genes and/or molecular pathways associated with adrenal hyperplasias and related adrenocortical tumors. Molecular and Cellular Endocrinology 300: 152–157. PubMed ID: 19063937
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
Loading...
×
ORDER OPTIONS
View Ordering Instructions1) Select Test Type
2) Select Additional Test Options
No Additional Test Options are available for this test.