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Isolated Polycystic Liver Disease (PCLD) via the SEC63 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
11655 SEC63 81479 81479,81479 $990 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
11655SEC6381479 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


  • Chansonette Badduke, PhD

Clinical Features and Genetics

Clinical Features

Isolated polycystic liver disease (PCLD) is one of the three clinical entities of polycystic liver disease (PLD), a collection of disorders characterized by development of multiple hepatic cysts in adulthood due to embryonic ductal plate malformation of the intrahepatic biliary tree (Van Keimpema et al. 2011; Cnossen et al. 2014). A polycystic liver can be also found in Von Meyenburg complexes (VMC; also termed microhamartomas) characterized by small, nonhereditary nodular cystic lesions; and autosomal dominant polycystic kidney disease (ADPKD) with concurrent hepatic cysts in over 80% of cases as the most frequent extra-renal manifestation.

The presentation of isolated polycystic liver disease (PCLD) is restricted to the liver in the absence of polycystic kidneys. In contrast, ADPKD is a multi-systemic disorder with polycystic kidneys as the major feature.


Isolated polycystic liver disease (PCLD) is an autosomal dominant disorder caused by pathogenic variants in PRKCSH, SEC63 or LRP5 (Drenth et al. 2003; Li et al. 2003; Davila et al. 2004; Cnossen et al. 2014). SEC63 (21 coding exons) encodes SEC63P, which is located within the endoplasmic reticulum (ER) and participates in quality control and translocation of glycoproteins into the ER. Documented pathogenic defects of SEC63 include missense, nonsense, splicing variants, and small deletions/insertions (Human Gene Mutation Database). Exon-level large deletions and duplications involving SEC63 have not been reported.

Clinical Sensitivity - Sequencing with CNV PGxome

Defects in PRKCSH and SEC63 can be found in 16-25% of PLCD patients (Van Keimpema et al. 2011; Cnossen et al. 2014).

Testing Strategy

This test provides full coverage of all coding exons of the SEC63 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 isolated polycystic liver disease (PCLD). Testing is also indicated for family members of patients who have known mutations in the SEC63 gene.


Official Gene Symbol OMIM ID
SEC63 608648
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Congenital Cystic Disease Of Liver AD 174050


  • Cnossen W.R. et al. 2014. Proceedings of the National Academy of Sciences of the United States of America. 111: 5343-8. PubMed ID: 24706814
  • Cnossen W.R., Drenth JP. 2014. Orphanet Journal of Rare Diseases. 9: 69. PubMed ID: 24886261
  • Davila S. et al. 2004. Nature Genetics. 36: 575-7. PubMed ID: 15133510
  • Drenth J.P. et al. 2003. Nature Genetics. 33: 345-7. PubMed ID: 12577059
  • Human Gene Mutation Database (Bio-base).
  • Li A. et al. 2003. American Journal of Human Genetics. 72: 691-703. PubMed ID: 12529853
  • Van Keimpema L. et al. 2011. Liver International : Official Journal of the International Association For the Study of the Liver. 31: 92-8. PubMed ID: 20408955


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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View Ordering Instructions

1) Select Test Method (Platform)

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.
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