Classic view of this page
Mitochondrial genome panel
Clinical Genetic Test
Help
offered by
Centogene AG - the Rare Disease Company
View lab's test page
LinkOut
GTR Test Accession: Help GTR000527967.2
MITOCHONDRIAL DISEASE
Last updated in GTR: 2015-11-05
View version history
Last annual review date for the lab: 2022-11-01 Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (1): Help
Mitochondrial disease
Genes (37): Help
MT-ATP6 (), MT-ATP8 (), MT-CO1 (), MT-CO2 (), MT-CO3 (), ...
Methods (1): Help
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
This test is targeted to individuals ● with a family …
Clinical validity: Help
Sequencing, deletion/duplication of this gene and related genes should be …
Clinical utility: Help
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Centogene AG - the Rare Disease Company
View lab's website
View lab's test page
Specimen Source: Help
  • 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
  • View specimen requirements
Who can order: Help
  • Genetic Counselor
  • Licensed Dentist
  • Licensed Physician
  • Physician Assistant
Test Order Code: Help
5261
Contact Policy: Help
Post-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
How to Order: Help
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Custom Deletion/Duplication Testing
Custom Sequence Analysis
Test additional service: Help
Custom Prenatal Testing
Custom mutation-specific/Carrier testing
Informed consent required: Help
Yes
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Lab contact for this test, Test strategy, Test development
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 37
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Clinical validity: Help
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 … View more
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)
  • 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.

Target population: Help
This test is targeted to individuals ● with a family history of the disease and presentation of the most common symptoms and/or ● without a positive family history, but with symptoms resembling the phenotype of the disease and/or ● with a negative but suspected family history, in order to perform … View more
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
The interpretation of a variation as a VUS is done according to the practice guidelines provided by the America College of Medical Genetics (ACMG; ACMG recommendations for standards for interpretation and reporting of sequence variations).

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Yes. We are performing a majority of carrier testing with reduced pricing and in selected cases at no cost.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes. In case of identification of mutation that can be present in non-affected family members, or after identification of highly specific genetic change, or in additional special situations we could contact the ordering again.
Research:
Is research allowed on the sample after clinical testing is complete? Help
After clinical testing is completed, with the patient’s signed consent, Centogene utilizes and archives the sample according to all regulatory guidelines and standards.
Recommended fields not provided:
Sample negative report, Sample positive report
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
For Proficiency Testing, both external and internal, during years of our lab operation, we have Sanger-sequenced hundred thousands of PCR fragments, and the error rate have is less than 0.01% (99.99% accuracy). We had performed MLPA on hundred thousand samples, and NGS and qPCR methods (used for increasing number of … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No

Description of PT method: Help
Proficiency testing (also known as comparative testing) is an important way of meeting the requirements of standards in the area of quality assurance of laboratory results. Proficiency testing involves a laboratories performing the same analyses on the same samples and comparing results. Centogene has two main and several related laboratories … View more
VUS:
Software used to interpret novel variations Help
CentoMD®, ALAMUT, integrating other programs (Polyphen-2, Mutation Tester, Alignment, ExPASy, BLAST

Laboratory's policy on reporting novel variations Help
Centogene has a common practice to report all variants found in genetic testing, including novel and previously reported variants. A number of criteria are used to support a variant as being potentially disease-causing, including segregation with disease status in other affected family members, absence from a control population, and location … View more
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, PT Provider, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Not provided
Additional Information
Reviews:
Clinical resources:
Molecular resources:
Consumer resources:

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in 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.