GTR Home > Tests > Deficiency of AMP pyrophorylase

Overview

Test name

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Deficiency of AMP pyrophorylase

Purpose of the test

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

Condition

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1condition tested. Click Indication tab for more information.

Methodology

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Molecular Genetics
CSequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
  • Applied Biosystem Genetic Analyzer 3130xl

Summary of what tested

1 genes and variants. Click Methodology tab for more information.

Genes and variants

Clinical validity

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Not provided

Clinical utility

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Not provided

How to order

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To order a test please send an e-mail to nagel@moldiag.de or to labor@moldiag.de. The request forms are available for download as a PDF documents by selecting the disease or gene on the website http://www.moldiag.de/en/. The forms may also be requested by sending an email to labor@moldiag.de. General price list is available upon request. Current turn around times for the test is 3-4 weeks.
Order URL Help: http://www.moldiag.com/en/

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Confirmation of research findings
  • Custom Sequence Analysis
  • Data Storage and Backup
  • Result interpretation
  • 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.

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