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Autosomal Dominant Polycystic Kidney Disease (ADPKD) via the DNAJB11 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
10473 DNAJB11 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
10473DNAJB1181479 81479,81479 $890 Order Options and Pricing

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

  • Wuyan Chen, PhD

Clinical Features and Genetics

Clinical Features

Autosomal dominant polycystic kidney disease (ADPKD) is a common inherited kidney disease with multisystem involvement. ADPKD is characterized by bilateral renal cysts accompanied by cysts in other organs including the liver, seminal vesicles, pancreas, and arachnoid membrane (Harris et al. 2011. PubMed ID: 20301424). Renal symptoms include hypertension, renal pain, and renal insufficiency. Nearly half of ADPKD patients have end-stage renal disease (ESRD) by age 60 years. The progressive growth of liver cysts is the most common extrarenal manifestation of ADPKD. The most important non-cystic manifestations of ADPKD are vascular and cardiac abnormalities including intracranial aneurysms, mitral valve prolapse, dilatation of the aortic root, dissection of the thoracic aorta, and abdominal wall hernias. The clinical spectrum of ADPKD is wide and substantial variability of disease severity can occur even within the same family.

Defects in the DNAJB11 gene cause atypical ADPKD, in which patients present with non-enlarged cystic kidneys, progressive interstitial fibrosis and late-onset ESRD (Cornec-Le Gall et al. 2018. PubMed ID: 29706351). The normal-sized cystic kidneys and interstitial fibrosis in non-cystic parenchyma suggested partial phenotypic overlap with autosomal-dominant tubulointerstitial diseases (ADTKD).

Genetics

PKD1 and PKD2 are the two major causative genes for ADPKD (Rossetti et al. 2007. PubMed ID: 17582161; Audrézet et al. 2012. PubMed ID: 22508176). Accounting for a small fraction of ADPKD cases, GANAB and DNAJB11 were newly implicated in ADPKD (Porath et al. 2016. PubMed ID: 27259053; Cornec-Le Gall et al. 2018. PubMed ID: 29706351).

DNAJB11 (10 coding exons) encodes a co-factor of BiP, a key chaperone in the endoplasmic reticulum (ER) that controls folding, trafficking and degradation of secreted and membrane proteins. Documented pathogenic variants in DNAJB11 include truncating changes (nonsense and frame-shifting small deletion/insertions) and missense substitutions (Cornec-Le Gall et al. 2018. PubMed ID: 29706351). No large deletions or duplications have been reported yet.

Clinical Sensitivity - Sequencing with CNV PGxome

After the identification of DNAJB11 as a new causative gene for autosomal dominant polycystic kidney disease (ADPKD) in two index families, analysis of an additional 591 genetically unresolved ADPKD families found five (~1%) families with pathogenic variants in DNAJB11 (Cornec-Le Gall et al. 2018. PubMed ID: 29706351).

Testing Strategy

This test provides full coverage of all coding exons of the DNAJB11 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 ADPKD, especially a phenotypic hybrid of ADPKD and ADTKD. Testing is also indicated for family members of patients who have known pathogenic variants in the DNAJB11 gene.

Gene

Official Gene Symbol OMIM ID
DNAJB11 611341
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Citations

  • Audr├ęzet et al. 2012. PubMed ID: 22508176
  • Cornec-Le Gall et al. 2018. PubMed ID: 29706351
  • Harris et al. 2011. PubMed ID: 20301424
  • Porath et al. 2016. PubMed ID: 27259053
  • Rossetti et al. 2007. PubMed ID: 17582161

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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