Isolated Polycystic Liver Disease (PCLD) Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
10135 LRP5 81406,81479 Order Options and Pricing
PRKCSH 81479,81479
SEC63 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
10135Genes x (3)81479 81406, 81479 $930 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

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 (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.

Genetics

Isolated polycystic liver disease (PCLD) is an autosomal dominant disorder caused by mutations in PRKCSH, SEC63 or LRP5 (Drenth et al. 2003; Li et al. 2003; Davila et al. 2004; Cnossen et al. 2014).

PRKCSH (16 coding exons) and SEC63 (21 coding exons) encode the beta-subunit of glucosidase II (a protein kinase C substrate) and Sec63p, respectively. Both proteins are located within the endoplasmic reticulum (ER) and are responsible for quality control and translocation of glycoproteins into the ER. Defects in PRKCSH and SEC63 account for about 16-25% of PLCD patients (Keimpema et al. 2011; Cnossen et al. 2014).

The LRP5 gene (23 coding exons) encodes a transmembrane low-density lipoprotein receptor, which plays a key role in skeletal homeostasis. Many bone density related diseases such as autosomal dominant osteopetrosis are caused by mutations in this gene. LRP5 mutations were recently reported to cause hepatic cystogenesis (clinically diagnosed as PCLD) due to deregulation of the canonical wingless signaling pathway (Cnossen et al. 2014).

Clinical Sensitivity - Sequencing with CNV PGxome

Defects in PRKCSH and SEC63 can be found in 16-25% of PLCD patients (Keimpema et al. 2011; Cnossen et al. 2014). In a cohort of 150 unrelated PCLD patients without mutations in PRKCSH, SEC63 or PKD2 genes, four families were found to have LRP5 mutations (Cnossen et al. 2014).

No large deletion or duplications have been reported in PRKCSH and SEC63.

Only two large deletions to date have been reported in LRP5 for osteoporosis-pseudoglioma syndrome (Human Gene Mutation Database).

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 isolated polycystic liver disease (PCLD).

Genes

Official Gene Symbol OMIM ID
LRP5 603506
PRKCSH 177060
SEC63 608648
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Congenital Cystic Disease Of Liver AD 174050

Related Test

Name
PGxome®

Citations

  • 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
  • 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/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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