Autosomal Recessive Renal Tubular Dysgenesis (RTD) Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
10151 ACE 81479,81479 Order Options and Pricing
AGT 81479,81479
AGTR1 81479,81479
REN 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
10151Genes x (4)81479 81479 $890 Order Options and Pricing

Pricing Comments

We are happy to accommodate requests for testing single genes in this panel or a subset of these genes. The price will remain the list price. If desired, free reflex testing to remaining genes on panel is available. Alternatively, a single gene or subset of genes can also be ordered via our PGxome Custom Panel tool.

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

For Reflex to PGxome pricing click here.

Turnaround Time

18 days on average for standard orders or 14 days on average for STAT orders.

Once a specimen has started the testing process in our lab, the most accurate prediction of TAT will be displayed in the myPrevent portal as an Estimated Report Date (ERD) range. We calculate the ERD for each specimen as testing progresses; therefore the ERD range may differ from our published average TAT. View 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

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).

Genetics

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 the REN, AGT, ACE and AGTR1 genes found in renal tubular dysgenesis include missense, nonsense, splicing mutations and small deletion/insertions (Human Gene Mutation Database). Exon-level large deletions have only been reported in the ACE gene, but uncommon. 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. The REN gene is mainly expressed in the granular cells of the juxtaglomerular apparatus of the kidney. Its final protein product, termed renin, is an aspartyl protease, which catalyzes the first step in the activation pathway of angiotensinogen. It cleaves angiotensinogen to form angiotensin I, which is converted to angiotensin II by the angiotensin I converting enzyme (ACE). The ACE gene encodes the angiotensin I converting enzyme, which is an important regulator of blood pressure and electrolyte balance. It catalyzes the conversion of angiotensin I into a physiologically active peptide angiotensin II, which is a potent vasopressor and aldosterone-stimulating peptide that controls blood pressure and fluid-electrolyte balance. The AGTR1 gene encodes the angiotensin II type 1 receptor (AT1), which belongs to the G-protein-coupled receptor superfamily. This receptor is thought to mediate the major cardiovascular effects of angiotensin II and play a role in the generation of reperfusion arrhythmias following restoration of blood flow to ischemic or infarcted myocardium.

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. The mutation detection rates were ACE (31 families; 64.6%), REN (10 families; 20.8%), AGT (4 families; 8.3%) and AGTR1 (3 families; 6.3%). Exon-level copy number changes were found to be very rare in these genes, and the mutation detection rate via sequencing is expected to be near 100% for cases fulfilling the clinical, pathological, and immunohistochemical criteria for RTD.

Testing Strategy

This test is performed using Next-Gen sequencing with additional Sanger sequencing as necessary.

This panel provides 100% coverage of all coding exons of the genes 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 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 autosomal recessive renal tubular dysgenesis. Testing is also indicated for family members of patients who have known mutations in the REN, AGT, ACE and AGTR1 genes.

Genes

Official Gene Symbol OMIM ID
ACE 106180
AGT 106150
AGTR1 106165
REN 179820
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Renal Tubular Dysgenesis AR 267430

Related Test

Name
PGxome®

Citations

  • 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/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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