Primary Macronodular Adrenal Hyperplasia via the ARMC5 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 | |
|---|---|---|---|---|---|
| 8219 | ARMC5 | 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 macronodular adrenal hyperplasia (PMAH) leads to excess cortisol secretion and rarely, Cushing syndrome. It often goes unrecognized and is usually detected as an adrenal incendentaloma, and thus is typically diagnosed later in life between 40-60 years in age (Drougat et al. 2015). In individuals with Cushing syndrome, prolonged exposure to cortisol may lead to obesity, severe fatigue, weak muscles, high blood pressure, high blood sugar, irritability, and anxiety. In individuals with PMAH, adrenocortical nodules tend to be slow growing and cortisol dysregulation progresses more slowly (Assié et al. 2013). It is most often sporadic, although familial cases have been reported, often occurring bilaterally, but can also occur in unilaterally (Alencar et al. 2014). The disease may show decreased penetrance, and also variable expressivity, as some individuals in a family may be severely affected and others in the family may have subclinical manifestations (Assié et al. 2013). Treatment is often surgical, but in select cases receptor antagonists may be used (De Venanzi et al. 2014).
Genetics
Primary macronodular adrenal hyperplasia is often sporadic, but can also be inherited in an autosomal dominant manner. Inherited forms are caused by pathogenic variants in the ARMC5 gene, which is thought to encode a tumor suppressor as a two-hit model has been observed in affected tissues (Assié et al. 2013). Reported pathogenic variants include missense, nonsense, splicing mutations, and small insertions and deletions (Correa et al. 2015; Alencar et al. 2014). One gross deletion of the whole gene has been reported (Assié et al. 2013).
Clinical Sensitivity - Sequencing with CNV PG-Select
The clinical sensitivity of this gene is difficult to predict due to the limited number of studies, but one review has suggested that bilateral macronodular adrenal hyperplasia may be present in 50% of apparently sporadic cases (De Venanzi et al. 2014).
Testing Strategy
This test provides full coverage of all coding exons of the ARMC5 gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.
Indications for Test
Individuals with a clinical presentation of primary macronodular adrenal hyperplasia and individuals with a family history.
Individuals with a clinical presentation of primary macronodular adrenal hyperplasia and individuals with a family history.
Gene
| Official Gene Symbol | OMIM ID |
|---|---|
| ARMC5 | 615549 |
| Inheritance | Abbreviation |
|---|---|
| Autosomal Dominant | AD |
| Autosomal Recessive | AR |
| X-Linked | XL |
| Mitochondrial | MT |
Disease
| Name | Inheritance | OMIM ID |
|---|---|---|
| Primary Macronodular Adrenal Hyperplasia | AD | 615954 |
Related Tests
Citations
- Alencar G.A. et al. 2014. The Journal of Clinical Endocrinology and Metabolism. 99: E1501-9. PubMed ID: 24708098
- Assié G. et al. 2013. The New England Journal of Medicine. 369: 2105-14. PubMed ID: 24283224
- Correa R. et al. 2015. European Journal of Endocrinology / European Federation of Endocrine Societies. 173: 435-40. PubMed ID: 26162405
- De Venanzi A. et al. 2014. Current Opinion in Endocrinology, Diabetes, and Obesity. 21: 177-84. PubMed ID: 24739311
- Drougat L. et al. 2015. European Journal of Endocrinology / European Federation of Endocrine Societies. 173: M121-31. PubMed ID: 26264719
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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2) Select Additional Test Options
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