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Familial Isolated Pituitary Adenoma via the AIP 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
8551 AIP 81479 81479,81479 $640 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8551AIP81479 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

Familial Isolated Pituitary Adenomas (FIPAs) are tumors that occur in the pituitary gland that have a familial origin (two or more related members), and represent approximately 2% of pituitary adenomas (Beckers et al. 2013). They are classified as either growth hormone-secreting adenomas (somatotropinoma), prolactin-secreting adenomas (prolactinoma), growth hormone and prolactin co-secreting adenomas (somatomammotropinoma), gonadotropinomas, ACTH-secreting adenomas, thyrotropinomas and non-functioning pituitary adenomas (NFPAs) (Guaraldi and Salvatori 2011; Beckers et al. 2013). TSH-secreting adenomas (causing hyperthyroidism) and ACTH-secreting adenomas (causing Cushing disease) are rarely observed (Korbonits and Kumar 2012). Interestingly, the adenomas within a family can show tumor heterogeneity (i.e. different types of pituitary adenomas) (Guaraldi and Salvatori 2011). Clinical findings result from excess hormone secretion, lack of hormone secretion or mass effects of the tumor. Individuals with these adenomas may exhibit agromegaly and pituitary gigantism due to somatotropinomas; amenorrhea, sexual problems, galactorrhea, infertility, visual field defects, and headaches due to prolactinomas; and bitemporal hemianopia and hypogonadism due to NFPAs (Korbonits and Kumar 2012).

Genetics

FIPAs are inherited in an autosomal dominant manner, and are caused by pathogenic variants in the AIP gene in 20% of cases. Importantly, pathogenic AIP variants have an incomplete penetrance of 15-30% (Korbonits and Kumar 2012). AIP encodes a protein that has a role in subcellular trafficking, transactivation and nuclear receptor stability (Chahal et al. 2010). It is thought to be a tumor suppressor, as inactivating AIP germline mutations and loss of the normal allele is observed in FIPAs (Guaraldi and Salvatori 2011). AIP-related FIPAs are larger, more aggressive, have an earlier course of disease, and are resistant to somatostatin analogs compared to individuals without a pathogenic AIP variant. Individuals with NFPAs are more common in families without an AIP mutation (Chahal et al. 2010; Salvatori et al. 2014). Approximately 70% of AIP pathogenic variants result in a truncated protein (Korbonits and Kumar 2012). Pathogenic variants are located throughout the gene and include nonsense, missense, small insertions and deletions, indels, splice site and gross deletions (Human Gene Mutation Database).

Clinical Sensitivity - Sequencing with CNV PG-Select

An AIP pathogenic variant is observed in 20% of individuals with FIPA. Sporadic pituitary adenoma patients have a pathogenic AIP variant in 2% of cases (Chahal et al 2010). Sanger sequencing is able to detect 90% of causative mutations in individuals with AIP-related FIPAs (Korbonits and Kumar 2012).

Testing Strategy

This test provides full coverage of all coding exons of the AIP gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

Indications for Test

Individuals suspected of having FIPAs or family members of these patients may be tested to determine variant status. This test is specifically designed for heritable germline mutations and is not appropriate for the detection of somatic mutations in tumor tissue.

Gene

Official Gene Symbol OMIM ID
AIP 605555
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Citations

  • Beckers A, Aaltonen LA, Daly AF, Karhu A. 2013. Familial Isolated Pituitary Adenomas (FIPA) and the Pituitary Adenoma Predisposition due to Mutations in the Aryl Hydrocarbon Receptor Interacting Protein ( AIP ) Gene. Endocrine Reviews 34: 239–277. PubMed ID: 23371967
  • Chahal HS, Chapple JP, Frohman LA, Grossman AB, Korbonits M. 2010. Clinical, genetic and molecular characterization of patients with familial isolated pituitary adenomas (FIPA). Trends in Endocrinology & Metabolism 21: 419–427. PubMed ID: 20570174
  • Guaraldi F, Salvatori R. 2011. Familial Isolated Pituitary Adenomas: From Genetics to Therapy. Clinical and Translational Science 4: 55–62. PubMed ID: 21348957
  • Human Gene Mutation Database (Bio-base).
  • Korbonits M, Kumar AV. 2012. AIP-Related Familial Isolated Pituitary Adenomas. In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong C-T, Smith RJ, and Stephens K, editors. GeneReviews(®), Seattle (WA): University of Washington, Seattle. PubMed ID: 22720333
  • Salvatori R, Daly AF, Quinones-Hinojosa A, Thiry A, Beckers A. 2014. A clinically novel AIP mutation in a patient with a very large, apparently sporadic somatotrope adenoma. Endocrinology, Diabetes and Metabolism Case Reports. PubMed ID: 25136448

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.
Total Price: $
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