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Dent Disease Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
10077 CLCN5 81479,81479 Order Options and Pricing
OCRL 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
10077Genes x (2)81479 81479(x4) $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 Custom Panel tool.

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 backbone).

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

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

  • Angela Gruber, PhD

Clinical Features and Genetics

Clinical Features

Dent disease is a progressive proximal renal tubulopathy with hypercalciuria, low-molecular-weight proteinuria, and nephrocalcinosis (Devuyst and Thakker 2010). Signs and symptoms of this condition appear in early childhood and progress to end-stage renal disease (ESRD) in early to mid-adulthood. Some patients may develop rickets or osteomalacia. The severity of the disease in affected individuals may vary greatly within the same family.

Genetics

Dent disease is inherited in an X-linked recessive pattern. Defects in the CLCN5 and OCRL genes account for about 50-60% and 15% of all cases of Dent disease, respectively (Devuyst and Thakker 2010). Dent disease occurs de novo in approximately 10% of patients. The milder features of low-molecular-weight (LMW) proteinuria proteinuria and hypercalciuria present in approximately 70% and 50% of females carriers, respectively. The CLCN5 gene encodes the ClC-5 chloride channel expressed in tubular epithelial cells. So far, genetic defects of CLCN5 found in Dent disease include missense, nonsense, splicing variants, small deletion/insertions and large deletions (Human Gene Mutation Database). The OCRL gene encodes a phosphatidylinositol 4,5-bisphosphate-5-phosphatase and its defects are also associated with Lowe Syndrome. So far, genetic defects of OCRL found in Dent disease include missense, nonsense, splicing variants, small deletion/insertions and large deletions (Human Gene Mutation Database).

Clinical Sensitivity - Sequencing with CNV PGxome

Defects in the CLCN5 and OCRL genes account for about 50-60% and 15% of all cases of Dent disease, respectively (Devuyst et al. 2010).

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. 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 Dent disease. Testing is also indicated for family members of patients who have known mutations in the CLCN5 or OCRL gene.

Genes

Official Gene Symbol OMIM ID
CLCN5 300008
OCRL 300535
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Diseases

Name Inheritance OMIM ID
Dent Disease 1 XL 300009
Dent Disease 2 XL 300555

Related Test

Name
PGxome®

Citations

  • Devuyst O, Thakker RV. 2010. Dent’s disease. Orphanet J Rare Dis 5: 28. PubMed ID: 20946626
  • 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

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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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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