• Test Code:
    1275
  • Department:
  • Test Synonyms:
    Intrahepatic cholestasisCitrin deficiencyAlagille syndromeABCB4AKR1D1ATP8B1JAG1SLC25A13
  • CPT Code(s):
    81407
Background:

Cholestasis is the build-up of bile in the liver. This causes liver diseases and characterized with jaundice, failure to thrive, enlarged liver and enlarged spleen.  This next-generation sequencing panel tests for 5 genes associated with cholestasis as a phenotype. Specifically these conditions include familial intrahepatic cholestasis, citrin deficiency, and Alagille syndrome. These conditions are inherited in an autosomal dominant or recessive pattern.

Reasons for Referral:

  • Confirmation of a clinical diagnosis
  • Carrier testing

Methodology:

Next generation sequencing will analyze the exons or coding regions of five Cholestasis-associated genes using Illumina NextSeq 500 technology.  Samples are prepared using hybridization probes to enrich exonic regions.  Promoter, intronic, etc. regions are not assessed on our assay, but may contain variants that impact gene function.

The five Cholestasis-associated genes are listed below:
ABCB4, AKR1D1, ATP8B1, JAG1, SLC25A13

Specimen Requirements:

Blood:  EDTA or ACD (Solution A or B):

  • Adult: 5 mL
  • Child: 5 mL
  • Infant: 2-3 mL

Saliva: 2 ORAgene Saliva Kit(s) (OGR-500)
Skin Fibroblast: Punch Biopsy, or 2 T-25 confluent flasks
DNA: 1-2µg at a minimum of 50-100ng/µL (DNA must be extracted in a CLIA-certified laboratory or a laboratory meeting equivalent requirements as determined by the CAP and/or CMS)

For routine testing of blood, saliva and buccal swabs, KDL does NOT accept samples from patients within two (2) weeks of a packed cell/platelet transfusion or within four (4) weeks of a whole blood transfusion.  For extraordinary circumstances, where testing must be performed outside of the above windows, please contact our lab.

A REQUISITION FORM MUST ACCOMPANY ALL SAMPLES.  Please include detailed clinical information, including ethnicity, clinical history, and family history.

Test Performed (Days):

Weekly

Turn Around Time:

8 weeks

Shipment Sensitivity Requirements:

  • Package and ship specimen to remain cold, but not frozen. 
  • Ship via overnight express, using the FedEx priority overnight label provided. 
  • Contact Client Services for shipping kits and instructions at (855) 535-1522.

References:

Additional Info:

The Knight Cancer Institute at Oregon Health & Science University is a pioneer in the field of precision cancer medicine. The institute's director, Brian Druker, M.D., helped prove it was possible to shut down just the cells that enable cancer to grow. This breakthrough has made once-fatal forms of the disease manageable and transformed how cancer is treated. The OHSU Knight Cancer Institute is the only National Cancer Institute-designated Cancer Center between Sacramento and Seattle – an honor earned only by the nation's top cancer centers. It is headquarters for one of the National Cancer Institute's largest research collaboratives, SWOG, in addition to offering the latest treatments and technologies as well as hundreds of research studies and clinical trials.

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