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Test Code
5341
Test Name
Polycystic Liver Disease NGS Panel
CPT Codes
81479
Expected Turnaround Time
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Clinical Utility
Genetic analysis to provide a molecular diagnosis of this disorder. Recommended for individuals with a personal and/or family history of this disorder to ensure appropriate treatment and establish recurrence risk for family members.
Specimen and Container Info

Non-Prenatal Specimens

Preferred/Alternate

Specimen Type

Containers

Volume

Preferred Specimen Type

Whole Blood

Lavender Top (EDTA)

3 mL

Alternate Specimen Type

Genomic DNA

1.5 mL Tube

3 µg (at a concentration of at least 30 ng/µl), preferably in TE solution.

Alternate Specimen Type

Fibroblasts

T-25 Flasks

2 confluent T-25 flasks, filled to capacity

Alternate Specimen Type

Saliva (Whole blood is recommended for CNV)

DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children

Follow kit instructions (www.dnagenotek.com)

Prenatal Specimens

Either specimen type below is acceptable.

Specimen Type

Containers

Volume

Cultured cells

T-25 Flasks

2 confluent T-25 flasks derived from amnio or CVS samples.

Genomic DNA

1.5 mL Tube

3 µg (at a concentration of at least 30 ng/µl), preferably in TE solution.

NOTE: For specimens from outside of North America, the preferred specimen type is Genomic DNA. HNL Genomics does not recommend shipping whole blood or cultured cells from any location other than the United States, Canada, or Mexico.
Transport Instructions
  • Transport at room temperature within 24 hours.
  • If the specimen cannot be transported to the lab within 24 hours, refrigerate for up to 72 hours.
  • Do not freeze or expose to extreme temperatures, refrigerate for up to 72 hours if cannot be transported to lab within 24 hours. 
Stability Requirements

Room Temperature

24 hours

Refrigerated

72 hours
Causes for Rejection
  • Improperly labeled specimen (minimum of two patient identifiers)
  • Inappropriate specimen type
  • Incomplete or incorrect test request form
  • Insufficient volume
  • Specimen has leaked in transit
  • Specimen without a test order
Methodology
Next Generation Sequencing and Copy Number Variation Analysis
Performing Location
Genomics - Snowdrift
Alternate Names
PCLD
Description

Polycystic liver disease (PCLD) is a rare, autosomal dominant disorder characterized by the presence of isolated liver cysts. To date, mutations in three genes, PRKCSH, SEC63, and LRP5, have been shown to cause PCLD. Even though PCLD is independent of polycystic kidney disease (PKD), hepatic cysts are a common finding in PKD. To aid in the differential diagnosis between PCLD and mild PKD cases, PKD genes are included in the panel.

The polycystic liver disease NGS panel consists of seven genes: GANAB, LRP5, PKD1, PKD2, PKHD1, PRKCSH and SEC63.

 Gene

Disorder

MIM

Inheritance

GANAB

Polycystic kidney disease 3 (PKD3)

600666

AD

LRP5

Polycystic liver disease 4 with or without kidney cysts

617875

AD

PKD1

Polycystic kidney disease 1(PKD1)

173900

AD

PKD2

Polycystic kidney disease 2 (PKD2)

613095

AD

PKHD1

Polycystic kidney and hepatic disease (ARPKD)

263200

AR

PRKCSH

Polycystic liver disease 1 (PCLD1)

174050

AD

SEC63

Polycystic liver disease 2 (PCLD2)

617004

AD

 

 
Testing Schedule
Monday-Friday
Genes
GANAB, LRP5, PKD1, PKD2, PKHD1, PRKCSH, SEC63
Disease Group
Liver, Nephrology
The American Medical Association (AMA) Current Procedural Terminology (CPT) codes published by HNL Lab Medicine are guidelines and are intended for informational purposes only. CPT coding is the exclusive responsibility of the billing entity. View the Terms.
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