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Neurohypophyseal Diabetes Insipidus (NDI) via the AVP Gene

Summary and Pricing

Test Method

Bi-Directional Sanger Sequencing
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
983 AVP 81479 81479 $580 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
983AVP81479 81479 $580 Order Options and Pricing

Pricing Comments

CNV detection may be ordered through Test #600.

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

Turnaround Time

12 days on average for standard orders or 8 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

  • Fang Xu, PhD, FACMG

Clinical Features and Genetics

Clinical Features

Neurohypophyseal Diabetes Insipidus (NDI) (OMIM# 125700), also called Central Diabetes Insipidus, is a neuroendocrine disorder resulting from deficiency of the antidiuretic hormone (ADH), also called arginine vasopressin, a hormone with the primary function of regulating the kidneys to retain water balance. NDI is characterized by polyuria and polydipsia. Patients may also show dehydration, vomiting, constipation, fever and development delay (Di Lorgi et al. Horm Res Paediatr 77(2):69-84, 2012).

Genetics

The AVP gene (OMIM# 192340) encodes the antidiuretic hormone arginine vasopressin (AVP), which is synthesized in the hypothalamus of brain. It binds to the vasopressin type 2 receptor (V2R) in the collecting ducts of the kidney and activates a series of reactions to regulate transepithelium water permeability in renal collecting tubes, which increases water reabsorption from urine and maintains the body’s water homeostasis (Babey et al. Nature Review Endocrinology 7:701-714, 2011). Mutations in AVP mainly cause autosomal dominant NDI, however, a few mutations have been documented in families with an autosomal recessive form NDI. To date, approximately 70 mutations in AVP have been identified; the majority of them are missense mutations, although truncating mutations caused by nonsense, small insertions and deletions, and one large deletion including part of the AVP gene have been reported (Human Gene Mutation Database; Christensen et al. Clin Genet 83:44-52, 2013).

Clinical Sensitivity - Sanger Sequencing

Analytical sensitivity may be high because all AVP mutations reported to date are expected to be detected by direct sequencing of genomic DNA. Clinical sensitivity is difficult to estimate due to the lack of documented cases.

To date, only one large deletion including part of the AVP gene has been reported (Human Gene Mutation Database; Christensen et al. Clin Genet 2013 83(1):44-52, 2013).

Testing Strategy

This test involves bidirectional Sanger sequencing of all coding exons and splice sites of the AVP gene. The full coding sequence of each exon plus ~10 bp of flanking DNA on either side are sequenced. We will also sequence any single exon (Test #100) in family members of patients with a known pathogenic variant or to confirm research results.

Indications for Test

Candidates for this test are patients with symptoms consistent with autosomal dominant, and autosomal recessive inheritance of neurohypophyseal diabetes insipidus (NDI), and the family members of patients who have known AVP mutations.

Gene

Official Gene Symbol OMIM ID
AVP 192340
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Diabetes Insipidus, Neurohypophyseal AD 125700

Related Tests

Name
Nephrogenic Diabetes Insipidus (NDI) and Nephrogenic Syndrome of Inappropriate Antidiuresis (NSIAD) via the AVPR2 Gene
Nephrogenic Diabetes Insipidus (NDI) via the AQP2 Gene

Citations

  • Babey et al., 2011 "Familial forms of diabetes insipidus: clinical and molecular characteristics" Nature Review Endocrinology 7(12):701-714. PubMed ID: 21727914
  • Christensen et al. (2013). "A novel deletion partly removing the AVP gene causes autosomal recessive inheritance of early-onset neurohypophyseal diabetes insipidus." Clin Genet 83:44-52. PubMed ID: 22168581
  • Di Lorgi et al. (2012). "Diabetes Insipidus-Diagnosis and Management." Horm Res Paediatr 77(2):69-84. PubMed ID: 22433947
  • Human Gene Mutation Database (Bio-base).

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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