Isolated Polycystic Liver Disease (PCLD) via the PRKCSH Gene

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy GenesPrice Test CPT CodeGene CPT Codes Copy CPT Codes STAT Prenatal
11605 PRKCSH$890 8147981479,81479 Add to Order

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.

A 25% additional charge will be applied to STAT orders. View STAT turnaround times here.

For Reflex to PGxome pricing click here.

The Sanger Sequencing method for this test is NY State approved.

For Sanger Sequencing click here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

Turnaround Time

18 days on average

EMAIL CONTACTS

Genetic Counselors

Geneticist

Clinical Features and Genetics

Clinical Features

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). PRKCSH (16 coding exons) encodes the beta-subunit of glucosidase II (a protein kinase C substrate), which is located within the endoplasmic reticulum (ER) and is responsible for quality control and translocation of glycoproteins into the ER. Causative genetic defects of PRKCSH include missense, nonsense, splicing, and small deletions/insertions (Human Gene Mutation Database). Exon-level large deletions and duplications involving PRKCSH have not been reported.

Genetics

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.

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.

Testing Strategy

This test provides full coverage of all coding exons of the PRKCSH 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.

Since this test is performed using exome capture probes, a reflex to any of our exome based tests is available (PGxome, PGxome Custom Panels).

Clinical Sensitivity - Sequencing with CNV

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

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 PRKCSH gene.

Gene

Official Gene Symbol OMIM ID
PRKCSH 177060
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

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
  • 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/Specimens

Ordering Options

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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