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GTR Home > Tests > Mitochondrial genome panel

Mitochondrial genome panel

  • GTR Test IDHelp: GTR000600689.1
  • Last updated: 2022-11-07
  • Test version history

Clinical testHelp for Mitochondrial disease
Offered by Centogene US, LLC - The Rare Disease Company

Overview

Test order codeHelp: 5261

Test name

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Mitochondrial genome panel

Purpose of the test

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This is a clinical test intended for Help: Diagnosis

Condition

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Click Indication tab for more information.

How to order

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Order URL Help: https://www.centogene.com/ordering/how-to-order-a-test.html

Specimen source

Amniocytes
Amniotic fluid
Bone marrow
Buccal swab
Dried blood spot (DBS) card
Fetal blood
Fibroblasts
Fresh tissue
Frozen tissue
Isolated DNA
Paraffin block
Peripheral (whole) blood
Specimen requirements: http://www.centogene.com/ordering/how-to-order-a-test/sample-requirements.html

Methodology

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Molecular Genetics
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)

Summary of what is tested

Click Methodology tab for more information.

Clinical utility

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Establish or confirm diagnosis

Citations
  • The clinical utility of the test refers to the likelihood that the test will, by prompting an intervention, result in an improved health outcome. The clinical utility of a genetic test is based on the health benefits related to the interventions offered to people with positive test results. Theoretically, there are several strategies that might improve the health outcome of people with a genetic susceptibility to disease and the main one is performing of gene test. Upon obtaining the gene test results, it is possible to apply specific treatment, to perform screening for the mutations within family or population of affected patients, and in general, to improve patient’s quality of life.

Clinical validity

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Sequencing, deletion/duplication of this gene and related genes should be performed in all individuals suspected for this particular phenotype. In parallel, other genes reported to be related with this clinical phenotype should also be analyzed for the presence of mutations, due to the overlap in many clinical features caused by those particular genes. 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
  • 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.