Sponsored Test

Test Code 15215
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Sponsored Genetic Testing Program for Cholestasis

No-charge genetic testing program

77 genes

2 - 3 weeks

Test Criteria

Patient must meet ONE of the criteria below:

  • Patient is currently cholestatic, or has a history of cholestasis, without an identified cause
  • Unexplained chronic liver disease
  • Unexplained chronic diarrhea plus tendon xanthomas, neurological deterioration, or idiopathic cataracts
  • First degree relative with cholestasis and confirmed variant/s in the following diseases/genes:
    • Alagille syndrome: JAG1, NOTCH2
    • PFIC: ABCB11, ABCB4, ATP8B1, KIF12, LSR, MYO5B, NR1H4, PSKH1, SLC51A, TJP2, SEMA7A, USP53, VPS33B, WDR83OS, ZFYVE19
    • CTX: CYP27A1

AND patient must meet ALL criteria below:

  • Extrahepatic disorders are not a consideration (eg, biliary atresia, choledochal cyst, large duct PSC)
  • TPN cholestasis is not suspected as a primary diagnosis
  • Patient lives in the U.S.
Specimen(s)

Whole blood, OCD-100 Buccal Swab

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