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GTR Home > Tests > Mitochondrial DNA Deletion Syndromes

Overview

Test order codeHelp: 2258

Test name

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Mitochondrial DNA Deletion Syndromes

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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Not provided

Specimen source

Peripheral (whole) blood

Methodology

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Molecular Genetics
DDeletion/duplication analysis
PCR

Summary of what is tested

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Clinical utility

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Establish or confirm diagnosis

Citations
  • Detection and characterization of mitochondrial DNA rearrangements in Pearson and Kearns-Sayre syndromes by long PCR. - PubMed ID: 9341886

Clinical validity

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Mitochondrial DNA Deletion Syndromes include Kearns-Sayre syndrome (KSS), Pearson syndrome, Chronic progressive external ophthalmoplegia (PEO), Leigh syndrome. A retrospective analysis of an Italian cohort of 253 individuals with a single mtDNA deletion showed 6.6% had classic KSS, 31.6% met criteria for KSS spectrum, 64.5% had PEO, and 2.6% had Pearson syndrome. Likewise, in a retrospective review of the natural history of 34 children with a single large-scale mtDNA deletion (SLSMD) in the United Kingdom, the most common initial presentation was isolated ptosis (47%). 10/34 had KSS, 3/34 had PEO, 7/34 had PEO-plus ("KSS spectrum"), and 11/34 had Pearson syndrome.

Citations
  • GeneReviews: NBK1203

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously

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