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Maternal MitoGenome Seq + Del
Clinical Genetic Test
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offered by
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics
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GTR Test Accession: Help GTR000591979.1
MITOCHONDRIAL DISEASE
Last updated in GTR: 2020-11-25
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Last annual review date for the lab: 2023-09-29 LinkOut
At a Glance
Test purpose: Help
Mutation Confirmation; Screening
Conditions (1): Help
Mitochondrial disease
Genes (37): Help
MT-ATP6 (), MT-ATP8 (), MT-CO1 (), MT-CO2 (), MT-CO3 (), ...
Methods (2): Help
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS); PCR
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics
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Test Order Code: Help
MITSM
How to Order: Help
Each specimen must be accompanied by a physician's test request. Informed consent is desirable. Proper billing information should also be provided on the test requisition form. This in not orderable as a standalone test. It is orderable for a maternal relative only as a comparitor for the CHOP MitoGenome Sequencing …
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Order URL
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Specimen source, Lab contact for this test, Contact policy, Test strategy
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: 2
Method Category Help
Test method Help
Instrument *
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Sequence analysis of the entire coding region
PCR
* Instrument: Not provided
Clinical Information
Test purpose: Help
Mutation Confirmation; Screening
Recommended fields not provided:
Clinical validity, Clinical utility, Target population, What is the protocol for interpreting a variation as a VUS?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical sensitivity and specificity = ~99%
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information
Reviews:
Clinical resources:
Molecular resources:
Consumer resources:

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