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Interpretive Handbook

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Test 57855 :
Comprehensive mtDNA Analysis by Massively Parallel Sequencing (MitoNGS)

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

Zhang W, Cui H, Wong LJ. Comprehensive one-step molecular analyses of mitochondrial genome by massively parallel sequencing.  Clin Chem. 2012,58:1322-31.

Scaglia F, Wong,  LJ.Human mitochondrial tRNAs: role of pathogenic mutations in disease.  Muscle Nerve 2008, 37:150-71.

Wong, LJ.  Pathogenic mitochondrial DNA mutations in protein coding genes.  Muscle Nerve 2007, 36:279-93.

Wong, LJ et al.  Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.  Hum Mutat 2008, 29:E150-72.

Tang S, Wong LJ, et al.  Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum. J Med Genet 2011, 48 (10):669-81.

Reference Values Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.

A final report will be attached in Mayo Access.

 

Test Performed by:       Baylor Medical Genetics Laboratories

                                    2450 Holcombe Blvd.

                                    Houston, TX 77021


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