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Test Code WESPM Whole Exome Sequencing plus Whole Mitochondrial Genome Sequencing, Varies


Advisory Information


This test is only available for trios (proband, biological mother, and biological father). This test cannot be performed unless whole blood samples are submitted from the patient and both biological parents.



Additional Testing Requirements


Samples from both biological parents and the patient are required. Each parental specimen must have a separate order for WES / Whole Exome Sequencing, Varies.



Necessary Information


1. Complete the Patient Information and Informed Consent forms within the Whole Exome Sequencing: Ordering Checklist, Patient Information, and Informed Consent forms, available in Special Instructions.

2. In addition, submit relevant clinic notes and a pedigree. Send all paperwork with the specimens to the laboratory. The paperwork may also be faxed directly to 507-284-1759.



Specimen Required


Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.

Specimen Type: Whole blood

Container/Tube:

Preferred: Lavender top (EDTA) or yellow top (ACD)

Acceptable: Any anticoagulant

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send specimen in original tube.

3. Label the parental samples with full name and date of birth. Do not label the parental samples with the child's name.

Additional Information: To ensure minimum volume and concentration of DNA is met, the preferred volume of blood must be submitted. Testing may be canceled if DNA requirements are not met.

Specimen Stability Information: Ambient (preferred)/Refrigerated


Forms

1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available in Special Instructions:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. Whole Exome Sequencing: Ordering Checklist, Patient Information, and Informed Consent in Special Instructions.

Useful For

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

Profile Information

Test ID Reporting Name Available Separately Always Performed
WES Whole Exome Sequencing Yes Yes
MITOP Mitochondrial Full Genome Analysis Yes Yes

Testing Algorithm

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.

Method Name

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)

Reporting Name

Whole Exome Sequencing plus mtDNA

Specimen Type

Varies

Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Ambient (preferred)
  Frozen 
  Refrigerated 

Reference Values

WHOLE EXOME SEQUENCING

An interpretive report will be provided that includes variants likely causative of the patient's reported clinical features, variants possibly relevant to the patient's reported clinical features, variants in genes of uncertain significance (GUS), and medically actionable secondary findings (unless the patient opts out).

 

MITOCHONDRIAL FULL GENOME ANALYSIS

An interpretive report will be provided.

Day(s) and Time(s) Performed

Whole Exome Sequencing: Performed weekly, Varies

Mitochondrial Full Genome Analysis: Monday through Friday; Varies

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

CPT Code Information

81415

81416 x 2

81460

81465

81479 (if appropriate for government payers)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
WESPM Whole Exome Sequencing plus mtDNA In Process

 

Result ID Test Result Name Result LOINC Value
55281 Result Summary 50397-9
113160 Interpretation 69047-9
55282 Result 82939-0
55283 Interpretation 69047-9
55284 Additional Information 48767-8
55285 Specimen 31208-2
55286 Source 31208-2
55287 Released By 18771-6