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Autosomal Recessive Polycystic Kidney Disease (ARPKD) via the DZIP1L 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
DZIP1L 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
10461DZIP1L81479 81479,81479 $990 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 platform).

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

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


  • Wuyan Chen, PhD

Clinical Features and Genetics

Clinical Features

Autosomal recessive polycystic kidney disease (ARPKD) is a hepatorenal fibrocystic disorder characterized by enlarged kidneys with collecting duct cysts and congenital hepatic fibrosis due to ductal plate malformation (DPM) during development (Bergmann. 2017. PubMed ID: 29479522; Sweeney et al. 1993. PubMed ID: 20301501). Arterial hypertension often develops during the first months of life and affects up to 80% of children with ARPKD. Severity varies widely; and the most severe cases are often neonatal lethal, accounting for approximately 30% of ARPKD patients with pathogenic variants in PKHD1. Diagnosis is often made pre- or neonatally although some cases are diagnosed in childhood or adult life. Many who survive the newborn period progress to end stage renal disease (ESRD).


PKHD1 is the primary causative gene for ARPKD (Bergmann. 2017. PubMed ID: 29479522; Ward et al. 2002. PubMed ID: 11919560). Accounting for a small fraction of genetically positive cases, DZIP1L was newly identified as the second causative gene for ARPKD (Lu et al. 2017. PubMed ID: 28530676; Hartung and Guay-Woodford. 2017. PubMed ID: 28736432).

The DZIP1L gene encodes DAZ interacting protein 1?like protein, the impairment of which is associated with ciliary trafficking defects and renal cystogenesis. Documented pathogenic variants in DZIP1L include truncating changes (nonsense variants and frame-shifting small deletion/insertions) and missense substitutions (Lu et al. 2017. PubMed ID: 28530676). No large deletions or duplications have been reported yet.

Patients with a heterozygous pathogenic variant in autosomal dominant polycystic kidney disease (ADPKD) genes such as PKD1 and PKD2 typically have onset of symptoms in adulthood. In some rare cases, however, patients with bi-allelic PKD1 variants may have clinical features similar to those of patients with ARPKD (Rossetti et al. 2009. PubMed ID: 19165178; Vujic et al. 2010. PubMed ID: 20558538; Audrézet et al. 2016. PubMed ID: 26139440). In these rare cases, symptoms may appear in early childhood or even in utero. Therefore, testing for ADPKD genes have been recommended for early onset PKD patients, especially when testing of PKHD1 or DZIP1L returns negative.

Clinical Sensitivity - Sequencing with CNV PGxome

Defects in the DZIP1L gene were found in only two of 743 (~0.3%) unrelated individuals with suspected autosomal recessive polycystic kidney disease (ARPKD) or sporadic PKD (Lu et al. 2017. PubMed ID: 28530676). No large deletions or duplications have been reported yet.

Testing Strategy

This test provides full coverage of all coding exons of the DZIP1L 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 ARPKD. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in DZIP1L.


Official Gene Symbol OMIM ID
DZIP1L 617570
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Polycystic Kidney Disease 5 AR 617610


  • Audrézet et al. 2016. PubMed ID: 26139440
  • Bergmann. 2017. PubMed ID: 29479522
  • Hartung and Guay-Woodford. 2017. PubMed ID: 28736432
  • Lu et al. 2017. PubMed ID: 28530676
  • Rossetti et al. 2009. PubMed ID: 19165178
  • Sweeney et al. 1993. PubMed ID: 20301501
  • Vujic et al. 2010. PubMed ID: 20558538
  • Ward et al. 2002. PubMed ID: 11919560


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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View Ordering Instructions

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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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