Test ID: WESMT    
Whole Exome and Mitochondrial Genome Sequencing, Varies

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

Serving as a first-tier test to identify a molecular and/or mitochondrial diagnosis in patients with suspected genetic disorders, which can allow for:

-Better understanding of the natural history/prognosis

-Targeted management (anticipatory guidance, management changes, specific therapies)

-Predictive testing of at-risk family members

-Testing and exclusion of disease in siblings or other relatives

-Recurrence risk assessment

 

Serving as a second-tier test for patients in whom previous genetic testing was negative.

 

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

 

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

This test provides results from both whole exome sequencing and mitochondrial genome sequencing.

 

Whole exome sequencing utilizes next-generation sequencing (NGS) to detect single nucleotide and copy number variants within the protein-coding regions of approximately 20,000 genes. See Method Description for additional details.

 

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

 

Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, recurrence risk assessment, familial screening, and genetic counseling.

 

It is highly recommended that samples are submitted from the patient (proband), the patient's biological mother, and the patient's biological father (trio analysis). However, testing for singletons (patient only), duos (patient and one relative to be used as a comparator), and nontraditional trios (patient and 2 relatives to be used as comparators) will also be accepted if the patient’s biological mother and biological father are not available for testing.

 

Additional first-tier testing may be considered/recommended. For more information, see the Ordering Guidance section.

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
WESDXWhole Exome SequencingYesYes
MITOPMitochondrial Full Genome AnalysisYesYes

Reflex Tests Lists tests that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial tests.

Test IDReporting NameAvailable SeparatelyAlways Performed
MATCCMaternal Cell Contamination, BYesNo
G226Number of Comparators for WESDXNo, (Bill Only)No
CULFBFibroblast Culture for Genetic TestYesNo

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

If a cord blood specimen is received, maternal cell contamination testing will be added and performed at an additional charge.

 

 For skin biopsy or cultured fibroblast specimens, fibroblast culture testing will be performed at an additional charge. If viable cells are not obtained, the client will be notified.

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

WESDX: Sequence Capture and Targeted Next-Generation Sequencing followed by Sanger Sequencing or Quantitative Polymerase Chain Reaction (qPCR)

MITOP: Long-Range Polymerase Chain Reaction (LR-PCR) 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.

Yes

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

Exome and Mitochondrial Genome

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

Exome
Exome Sequencing
Exon
Exons
WES
Whole
Whole exome
Whole-exome
Singleton
Duo
Trio
Quad
Non-traditional trio
Genome
Genomic
WESDX
WESMT
Chronic progressive external ophthalmoplegia
CPEO
Kearns-Sayre syndrome
Leber's hereditary optic neuropathy
Leigh syndrome
LHON
MELAS
MERRF
mtDNA
Myoclonic Epilepsy with Ragged Red Fibers
NARP
Neurogenic Muscle Weakness, Ataxia, and Retinitis Pigmentosa
Next Gen Sequencing Test
Pearson syndrome