Nephrogenic Diabetes Insipidus (NDI) via the AQP2 Gene

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
9025 AQP2 81404 81404,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
9025AQP281404 81404, 81479 $890 Order Options and Pricing

Pricing Comments

Our favored testing approach is exome based NextGen sequencing with CNV analysis. This will allow cost effective reflexing to PGxome or other exome based tests. However, if full gene Sanger sequencing is desired for STAT turnaround time, insurance, or other reasons, please see link below for Test Code, pricing, and turnaround time information. If the Sanger option is selected, CNV detection may be ordered through Test #600.

A 25% additional charge will be applied to STAT orders. View STAT turnaround times here.

For Reflex to PGxome pricing click here.

The Sanger Sequencing method for this test is NY State approved.

For Sanger Sequencing click here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

Turnaround Time

18 days on average

EMAIL CONTACTS

Genetic Counselors

Geneticist

Clinical Features and Genetics

Clinical Features

Nephrogenic Diabetes Insipidus (NDI) is a kidney disorder characterized by polyuria (too much urine) and polydipsia (excessive thirst), which results from an insensitivity to vasopressin (also called antidiuretic hormone, ADH), a hormone that regulates the kidneys to retain water.

Inherited NDI patients usually display early onset (< 1 year old), poor feeding, failure to thrive, fever, short stature, and are prone to severe dehydration trigged by illness, hot environments and water depletion. Autosomal dominant NDI patients usually display milder symptoms and later onset compared to autosomal recessive NDI. Mutations in the AQP2 gene cause both autosomal dominant and autosomal recessive Nephrogenic Diabetes Insipidus (NDI) (OMIM# 125800), which accounts for 9% and 1% of inherited NDI respectively (Bichet. Advances in Chronic Kidney Disease 13(2):96-104, 2006; Schrier.Semin Nephrol 28(3):289-296, 2008 and Knoers. GeneReviews, 2012).

Genetics

Inherited NDI can be caused by mutations in the AVPR2 and AQP2 genes. The AQP2 gene (OMIM# 107777) encodes an aquaporin-2 water channel protein in the renal collecting tubules, a key component of integral protein in the kidney's collecting duct. In response to AVP-AVPR2 coupled reaction, AQP2 protein translocates from intracellular to the apical plasma membrane to increase water permeability in renal tubules and to maintain water homeostasis. To date, more than 50 causative mutations have been identified; the majority of them are missense mutations (~85%) (Knoers, 2012).

Clinical Sensitivity - Sequencing with CNV PGxome

AQP2 gene mutations can be detected by sequencing in about 10% of patients with clinical diagnosed nephrogenic diabetes insipidus (Knoers, 2012).

Testing Strategy

This test provides full coverage of all coding exons of the AQP2 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.

Since this test is performed using exome capture probes, a reflex to any of our exome based tests is available (PGxome, PGxome Custom Panels).

Indications for Test

Candidates for this test are patients with symptoms consistent with autosomal dominant and autosomal recessive inheritance of Nephrogenic Diabetes Insipidus (NDI), and the family members of patients who have known AQP2 mutations. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in AQP2.

Gene

Official Gene Symbol OMIM ID
AQP2 107777
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Diabetes Insipidus, Nephrogenic, Autosomal AR, AD 125800

Related Tests

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

Citations

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.

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 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.

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