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Carney Complex (CNC) via the PRKAR1A Gene

Summary and Pricing

Test Method

Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
8411 PRKAR1A 81479 81479,81479 $640 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8411PRKAR1A81479 81479,81479 $640 Order Options and Pricing

Pricing Comments

This test is also offered via our exome backbone with CNV detection (click here). The exome-based test may be higher priced, but permits reflex to the entire exome or to any other set of clinically relevant genes.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

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

  • Hannah Cox, PhD

Clinical Features and Genetics

Clinical Features

Carney Complex (CNC) is a disorder that is characterized by skin pigment abnormalities, myxomas, endocrine overactivity or tumors, and schwannomas (Stratakis and Horvath 2012). This disorder had previously been called LAMB (lentigines, atrial myxomas, mucocutaneous myxomas, and blue naevi) or NAME (naevi, atrial myxomas, myxoid neurofibroma, and ephelides) (Rothenbuhler and Stratakis 2010). The most common skin pigment changes are lentigines, which are small benign pigmented spots on the skin with a clearly defined border. Both cutaneous and cardiac myxomas are also observed in individuals with CNC. Myxomas are tumors that are primarily connective tissue, which can occur in the skin, breast, oropharynx or the female genital tract. Cardiac myxomas occur at a young age and can obstruct blood flow leading to heart failure, and are one of the leading causes of CNC mortality. Other clinical manifestations of CNC include primary pigmented nodular adrenocortical disease (PPNAD), which is the most frequently observed tumor, found in approximately 25% of affected individuals. This causes periodic or atypical Cushing syndrome, where the body is exposed to prolonged exposure to cortisol leading to obesity, severe fatigue, weak muscles, high blood pressure, high blood sugar, irritability, and anxiety. Large-cell calcifying Sertoli cell tumors (LCCSCTs) are found in almost all adult males, and multiple thyroid nodules are identified in approximately 75% of affected individuals. Acromegaly resulting from a growth hormone (GH)-producing adenoma and Psammomatous melanotic schwannoma (PMS) are identified in approximately 10% of affected individuals (Halászlaki et al. 2012; Stratakis and Horvath 2012). The median age of diagnosis is 20 years, and more than 700 cases worldwide are known (Stratakis and Horvath 2012).

Genetics

Carney Complex (CNC) is an autosomal dominant disorder that has near complete penetrance by age 50 (Stratakis and Horvath 2012). It is caused by mutations in the PRKAR1A gene, which 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). Approximately 70% of PRKAR1A causative mutations are inherited from an affected parent, and 30% of causative mutations are de novo. Most pathogenic variants result in protein loss of function, such as nonsense, and small insertions and deletions; causing nonsense mediated decay (Pan et al. 2010). Other causative mutations include missense variants and large deletions. Specific genotype-phenotype correlations have been observed with certain pathogenic variants, which may guide clinical management (Stratakis and Horvath 2012).

Clinical Sensitivity - Sequencing with CNV PG-Select

Pathogenic variants in the PRKAR1A gene can be detected via sequencing in ~60% of affected individuals (Stratakis and Horvath 2012).

Pathogenic variants in the PRKAR1A gene can be detected via large deletion testing in 2-21% of affected individuals (Stratakis and Horvath 2012; Salpea et al. 2014).

Testing Strategy

This test provides full coverage of all coding exons of the PRKAR1A 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 Carney Complex and individuals with a family history.

Gene

Official Gene Symbol OMIM ID
PRKAR1A 188830
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Related Tests

Name
Comprehensive Cardiology Panel
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Primary Macronodular Adrenal Hyperplasia via the ARMC5 Gene

Citations

  • Halászlaki C, Takács I, Butz H, Patócs A, Lakatos P. 2012. Novel Genetic Mutation in the Background of Carney Complex. Pathology & Oncology Research 18: 149–152. PubMed ID: 22297707
  • Pan L, Peng L, Jean-Gilles J, Zhang X, Wieczorek R, Jain S, Levine V, Osman I, Prieto VG, Lee P. 2010. Novel PRKAR1A gene mutations in Carney Complex. International journal of clinical and experimental pathology 3: 545. PubMed ID: 20606737
  • Rothenbuhler A, Stratakis CA. 2010. Clinical and molecular genetics of Carney complex. Best Practice & Research Clinical Endocrinology & Metabolism 24: 389–399. PubMed ID: 20833331
  • Salpea P, Horvath A, London E, Faucz FR, Vetro A, Levy I, Gourgari E, Dauber A, Holm IA, Morrison PJ, Keil MF, Lyssikatos C, et al. 2014. Deletions of the PRKAR1A Locus at 17q24.2-q24.3 in Carney Complex: Genotype-Phenotype Correlations and Implications for Genetic Testing. The Journal of Clinical Endocrinology & Metabolism 99: E183–E188. PubMed ID: 24170103
  • Stratakis CA, Horvath A. 2012. Carney Complex. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong C-T, and Stephens K, editors. GeneReviews™, Seattle (WA): University of Washington, Seattle. PubMed ID: 20301463

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

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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.
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