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GTR Home > Tests > ATP8B1 mutation analysis

Overview

Test name

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ATP8B1 mutation analysis (ATP8B1)

Purpose of the test

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This is a clinical test intended for Help: Diagnosis, Mutation Confirmation, Pre-symptomatic, Prognostic, Risk Assessment, Screening

Condition

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Click Indication tab for more information.

How to order

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Using our website
Order URL Help: https://genomediagnostics.amsterdamumc.nl/information-and-order/

Specimen source

Amniocytes
Amniotic fluid
Buccal swab
Cell culture
Chorionic villi
Cord blood
Fetal blood
Fibroblasts
Fresh tissue
Frozen tissue
Isolated DNA
Peripheral (whole) blood
Saliva

Methodology

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Molecular Genetics
CSequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
  • Applied Biosystems 3730 capillary sequencing instrument

Summary of what is tested

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Clinical utility

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Establish or confirm diagnosis

Citations

Not provided

Clinical validity

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Not provided

Testing strategy

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Simultaneous bi-directional sequencing of all coding exons 000 Using our website

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Confirmation of research findings
  • Custom Prenatal Testing
  • Custom mutation-specific/Carrier testing

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.