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GTR Home > Tests > RET - MLPA

Overview

Test name

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RET - MLPA

Purpose of the test

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This is a clinical test intended for Help: Diagnosis

Condition

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How to order

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Order URL Help: https://www.centogene.com/diagnostics/how-to-order

Specimen source

Amniotic fluid
Bone marrow
Buccal swab
Cell culture
Chorionic villi
Dried blood spot (DBS) card
Fetal blood
Fibroblasts
Isolated DNA
Peripheral (whole) blood
Product of conception (POC)
Saliva

Methodology

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Molecular Genetics
DDeletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)

Summary of what is tested

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Clinical utility

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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

Not provided

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Custom Deletion/Duplication Testing
  • Custom Sequence Analysis
  • Result interpretation
  • Custom mutation-specific/Carrier testing

Suggested reading

Practice guidelines

  • NICE, 2022
    UK NICE Guideline NG230, Thyroid cancer: assessment and management
  • EuroGenetest, 2011
    Clinical utility gene card for: multiple endocrine neoplasia type 2.

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.