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GTR Home > Tests > ABCB11 mutation analysis

ABCB11 mutation analysis

  • GTR Test IDHelp: GTR000500349.7
  • Last updated: 2023-04-13
  • Test version history

Clinical testHelp for Benign recurrent intrahepatic cholestasis type 2
Offered by Amsterdam UMC Genome Diagnostics

Performance Characteristics

Availability

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  • Entire test performed in-house

Analytical Validity

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This test detects >99% of described mutations

Citations

Not provided

Assay Limitation(s)

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All coding sequences, including the flanking intron sequences are analyzed using direct sequencing. With this method we can detect point mutations and small deletions or insertions. The presence of larger deletions or insertions, or mutations outside the analyzed regions will not be detected.

Proficiency Testing (PT)

Is proficiency testing performed for this test? Help
Yes
Method used for proficiency testingHelp
Formal PT program
PT ProviderHelp
European Molecular Genetics Quality Network, EMQN
PT Description
For Proficiency Testing, both external and internal, we have Sanger-sequenced extensive numbers of PCR fragments, and the error rate is less than 0.01% (99.99% accuracy). Technical specificity for methods used in our laboratory is estimated >99.5% and technical sensitivity >99.5%. Mutation detection reproducibility for Sanger sequencing is near to 100%.

FDA Regulatory Clearances of the Test

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FDA Category Designation
Not Applicable

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