Maternal MitoGenome Seq + Del
- GTR Test IDHelpEach Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. When a laboratory updates a registered test, a new version number is assigned.: GTR000591979.1
- Last updated: 2020-11-25
- Test version history
- 591979.1, last updated: 2020-11-25
Clinical testHelpIn the U.S., clinical tests must be performed under CLIA certification. When a lab uses the same methods for a test in both clinical and research settings, the test appears as two separate GTR records. for Mitochondrial disease
Offered by Genomic Diagnostic Laboratory, Division of Genomic Diagnostics
Overview
Test name
HelpThe name the laboratory assigns the test. Used as the default title of the page specific to the test.Maternal MitoGenome Seq + Del
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Mutation Confirmation, Screening
Click Indication tab for more information.
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 + Deletion Analysis (MITSP) and Rapid MitoGenome Seq + Del (MITSR) tests available through our laboratory.
Order URL HelpLink to the laboratory webpage with information about how to order this test. Please note that clicking on this link will open a new tab in your internet browser.: https://media.chop.edu/data/files/pdfs/molecular-genetics-lab-test-requisition-form.pdf
Methodology
HelpThe assay's major method category (biochemical, cytogenetic or molecular genetics); method category (i.e. enzyme assay, chromosome breakage studies, targeted mutation analysis); methodology (i.e. the name of the method used) and instruments used when performing this test.- Molecular Genetics
- CSequence analysis of the entire coding region
- Next-Generation (NGS)/Massively parallel sequencing (MPS)PCR
Not provided
Clinical validity
HelpHow consistently and accurately the test detects or predicts the intermediate or final outcomes of interest. Lab-provided.Not provided
- OMIM
- View MT-TC variations in ClinVar
- View MT-ND1 variations in ClinVar
- View MT-ND4 variations in ClinVar
- View MT-ND5 variations in ClinVar
- View MT-ND6 variations in ClinVar
- View MT-TA variations in ClinVar
- View MT-TD variations in ClinVar
- View MT-TF variations in ClinVar
- View MT-TH variations in ClinVar
- View MT-TK variations in ClinVar
- View MT-TL1 variations in ClinVar
- View MT-TL2 variations in ClinVar
- View MT-TM variations in ClinVar
- View MT-TQ variations in ClinVar
- View MT-TR variations in ClinVar
- View MT-TS1 variations in ClinVar
- View MT-TS2 variations in ClinVar
- View MT-TT variations in ClinVar
- View MT-TV variations in ClinVar
- View MT-TW variations in ClinVar
- View MT-TY variations in ClinVar
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