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GTR Home > Tests > PLOD1 Gene Sequencing

Overview

Test order codeHelp: 003160

Test name

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PLOD1 Gene Sequencing

Purpose of the test

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

Condition

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Click Indication tab for more information.

How to order

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The requirements for each test are listed at www.genetix.com.co. For further questions, please contact us at genetix@genetix.com.co
Order URL Help: http://www.genetix.com.co/

Specimen source

Amniocytes
Amniotic fluid
Cell culture
Chorionic villi
Fetal blood
Fibroblasts
Fresh tissue
Isolated DNA
Peripheral (whole) blood
Skin
White blood cell prep
Specimen requirements: http://www.genetix.com.co/

Methodology

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Molecular Genetics
SMutation scanning of the entire coding region
Bi-directional Sanger Sequence Analysis
  • ABI 3700XL

Summary of what is tested

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Clinical utility

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Establish or confirm diagnosis

Citations

Clinical validity

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>92% of sensitivity using complete sequencing of the coding region.

Citations

Testing strategy

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PCR amplification of entire coding sequence and bidirectional sequencing. 000 The requirements for each test are listed at www.genetix.com.co. For further questions, please contact us at genetix@genetix.com.co

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Custom Sequence Analysis
  • Genetic counseling
  • 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.