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GTR Home > Tests > Pancreatitis Panel

Pancreatitis Panel

  • GTR Test IDHelp: GTR000597603.1
  • Last updated: 2022-11-01
  • Annual Review past due read more
  • Test version history

Clinical testHelp for Cholestasis, intrahepatic, of pregnancy, 3
Offered by Centogene AG - the Rare Disease Company

Indication

This is a clinical test intended for Help: Diagnosis

Clinical summary

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Imported from OMIM

Intrahepatic cholestasis of pregnancy is a reversible form of cholestasis that occurs most often in the third trimester of pregnancy and recurs in 45 to 70% of subsequent pregnancies. Symptoms include pruritus, jaundice, increased serum bile salts, and abnormal liver enzymes, all of which resolve rapidly after delivery. However, the condition is associated with fetal complications, including placental insufficiency, premature labor, fetal distress, and intrauterine death. Women with ICP are also susceptible to oral contraceptive-induced cholestasis (OCIC). Ursodeoxycholic acid (UDCA) is an effective treatment for conditions caused by ABCB4 mutations (summary by Pasmant et al., 2012). Mutation in the ABCB4 gene accounts for about 15% of ICP cases (summary by Ziol et al., 2008). For a discussion of genetic heterogeneity of ICP, see ICP1 (147480).

Clinical features

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Imported from Human Phenotype Ontology (HPO)

  • Intrahepatic cholestasis
  • Fetal distress
  • Jaundice
  • Pruritus
  • Premature birth
  • Increased serum bile acid concentration during pregnancy
  • Abnormal liver function tests during pregnancy
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Inheritance pattern

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Autosomal recessive inheritance

Conditions tested

Target population

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Not provided

Clinical validity

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This panel should be performed in all individuals suspected of having an overlapping clinical phenotype. Confirmation of a clinical diagnosis through genetic testing can allow for genetic counseling and may direct medical management. Genetic counseling can provide a patient and/or family with the natural history of the condition, identify at-risk family members, provide reproductive risks as well as preconception/prenatal options, and allow for appropriate referral for patient support and/or resources.

Citations

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Clinical utility

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Not provided

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.