Test Catalog

Test ID: WESPM    
Whole Exome Sequencing plus Whole Mitochondrial Genome Sequencing, Varies

Useful For Suggests clinical disorders or settings where the test may be helpful

Establishing a molecular diagnosis in patients with a known or suspected genetic disorder


Establishing a diagnosis of mitochondrial disease that results from variants in the mitochondrial genome


Second-tier testing for patients in whom previous genetic testing for specific syndromes or specific mitochondrial disease-related genes was negative


Providing a potentially cost-effective alternative to establishing a molecular diagnosis compared to multiple independent molecular assays


Identifying variants within genes of the mitochondrial genome that are known to be associated with mitochondrial disease, allowing for predictive testing of at-risk family members

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

Whole exome sequencing is used to evaluate patients with suspected genetic disorders for germline variants within the coding regions of approximately 23,000 genes using next-generation sequencing (NGS). This test requires that samples are submitted from the patient, the patient's biological mother, and the patient's biological father (trio analysis).


Mitochondrial genome sequencing includes amplification of the entire mitochondrial genome by long-range polymerase chain reaction (LRPCR) followed by sequencing on the NGS platform to evaluate for variants within the mitochondrial genome.


This test uses next-generation sequencing (NGS) to evaluate patients with a suspected genetic disorder, including diagnostic odyssey patients who have had previous genetic testing that has been uninformative.


NGS is utilized to test for germline variants in the exome (ie, coding regions of the genome) and the presence of variants within the mitochondrial genome (includes 13 protein-coding genes, 22 tRNA genes, and 2 rRNA genes). Large deletions within the mitochondrial genome are first detected by gel electrophoresis (as size-shifted PCR bands), and the locations of the deletions in the mtDNA are then determined from the NGS data.

Profile Information A profile is a group of laboratory tests that are ordered and performed together under a single Mayo Test ID. Profile information lists the test performed, inclusive of the test fee, when a profile is ordered and includes reporting names and individual availability.

Test IDReporting NameAvailable SeparatelyAlways Performed
WESWhole Exome SequencingYesYes
MITOPMitochondrial Full Genome AnalysisYesYes

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

1. Order this test for the patient (proband).

2. Order WES / Whole Exome Sequencing, Varies for the patient's biological parents. Parental samples will not receive mitochondrial full-genome testing.

3. The cost of analysis for parental samples is applied to the patient’s test. Family members will not be charged separately.

4. Complete the Whole Exome Sequencing: Ordering Checklist, Patient Information, and Informed Consent forms (see Special Instructions) and send to the laboratory along with the specimen.


In addition to analysis of variants associated with the patient's reported phenotype, analysis for reportable secondary findings in genes included in the American College of Medical Genetics and Genomics (ACMG) recommendations will be included.(1) Individuals may opt-out of receiving these test results.


Sanger sequencing or other orthogonal methods may be performed for verification of results.


See Whole Exome Sequencing (WES): Questions and Answers for Providers in Special Instructions for additional information.

Special Instructions Library of PDFs including pertinent information and forms related to the test

Method Name A short description of the method used to perform the test

WES: Next-Generation Sequencing followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing

MITOP: Long-Range Polymerase Chain Reaction (LRPCR) followed by Next-Generation Sequencing (NGS)

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.


Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

Whole Exome Sequencing plus mtDNA

Aliases Lists additional common names for a test, as an aid in searching

Exome Sequencing
Next Gen Sequencing Test
Chronic progressive external ophthalmoplegia
Kearns-Sayre syndrome
Leber's hereditary optic neuropathy
Leigh syndrome
Myoclonic Epilepsy with Ragged Red Fibers
Neurogenic Muscle Weakness, Ataxia, and Retinitis Pigmentosa
Pearson syndrome