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Autosomal Recessive Renal Tubular Dysgenesis (RTD) via the AGT 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
AGT 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8523AGT81479 81479,81479 $990 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.

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

Click here for costs to reflex to whole PGxome (if original test is on PGxome Sequencing platform).

Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing platform).

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

For Sanger Sequencing click here.

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.


Genetic Counselors


  • Angela Gruber, PhD

Clinical Features and Genetics

Clinical Features

Autosomal recessive renal tubular dysgenesis (RTD) is a severe disorder of renal tubular development characterized by early onset of persistent anuria (leading to oligohydramnios) and the absence or incomplete differentiation of proximal tubules (Gribouval et al. 2005; Gribouval et al. 2012). Affected individuals may die in utero or within 24 hours of birth. The histopathological hallmark of the disease is absence or paucity of differentiated proximal tubules, which may be associated with skull ossification defects. Renal lesions and early anuria result from renin-angiotensin system inactivity caused by defects in the genes encoding renin (REN), angiotensinogen (AGT), angiotensin converting enzyme (ACE) or angiotensin II receptor type 1 (AGTR1).


Autosomal recessive renal tubular dysgenesis is a consequence of renin-angiotensin system inactivity caused by defects in the genes encoding renin (REN), angiotensinogen (AGT), angiotensin converting enzyme (ACE) or angiotensin II receptor type 1 (AGTR1) (Gribouval et al. 2005; Gribouval et al. 2012). These genes play a crucial role in the reninangiotensin system during human kidney development.

Genetic defects of AGT found in renal tubular dysgenesis include missense, nonsense, splicing mutations and small deletion/insertions (Human Gene Mutation Database). Exon-level large deletions involving AGT have not been reported yet. AGT encodes pre-angiotensinogen or angiotensinogen precursor, which is synthesized mainly by the liver and then cleaved by the enzyme renin to form angiotensin I. This peptide is the start point of a cascade that can result in aldosterone release, vasoconstriction and increase in blood pressure.

Clinical Sensitivity - Sequencing with CNV PGxome

In the most comprehensive study by far of 48 autosomal recessive RTD families (Gribouval et al. 2012), mutations were found in one of the REN, AGT, ACE and AGTR1 genes for all cases fulfilling the clinical, pathological, and immunohistochemical criteria for RTD. Mutations in the AGT gene were found in 4 families (8.3%).

Testing Strategy

This test provides full coverage of all coding exons of the AGT 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. PGnome panels typically provide slightly increased coverage over the PGxome equivalent. PGnome sequencing panels have the added benefit of additional analysis and reporting of deep intronic regions (where applicable).

Dependent on the sequencing backbone selected for this testing, discounted reflex testing to any other similar backbone-based test is available (i.e., PGxome panel to whole PGxome; PGnome panel to whole PGnome).

Indications for Test

Candidates for this test are patients with autosomal recessive renal tubular dysgenesis. Testing is also indicated for family members of patients who have known mutations in the AGT gene. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in AGT.


Official Gene Symbol OMIM ID
AGT 106150
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Renal Tubular Dysgenesis AR 267430

Related Test

Autosomal Recessive Renal Tubular Dysgenesis (RTD) via the AGTR1 Gene


  • Gribouval O, Gonzales M, Neuhaus T, Aziza J, Bieth E, Laurent N, Bouton JM, Feuillet F, Makni S, Amar H Ben, Laube G, Delezoide A-L, et al. 2005. Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis. Nat. Genet. 37: 964–968. PubMed ID: 16116425
  • Gribouval O, Morinière V, Pawtowski A, Arrondel C, Sallinen S-L, Saloranta C, Clericuzio C, Viot G, Tantau J, Blesson S, Cloarec S, Machet MC, et al. 2012. Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis. Hum. Mutat. 33: 316–326. PubMed ID: 22095942
  • Human Gene Mutation Database (Bio-base).


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

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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2) Select Additional Test Options

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Note: acceptable specimen types are whole blood and DNA from whole blood only.
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