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HelpTest Code WESR Whole Exome Sequencing Reanalysis, Varies
Ordering Guidance
This test is only appropriate for patients who have previously had one of the following whole exome sequencing tests performed by Mayo Clinic Laboratories:
WES / Whole Exome Sequencing, Varies
WESDX / Whole Exome Sequencing for Hereditary Disorders, Varies
WESPP / Whole Exome Sequencing Plus Pharmacogenomics
WESPM / Whole Exome Sequencing plus Whole Mitochondrial Genome Sequencing, Varies
WESMT / Whole Exome and Mitochondrial Genome Sequencing, Varies
If the patient has not had one of the above tests performed previously, consider either WESDX / Whole Exome Sequencing for Hereditary Disorders, Varies or WESMT / Whole Exome and Mitochondrial Genome Sequencing, Varies.
This test is for patients (probands) only. This test does not need to be ordered for family member comparators (CMPRE / Family Member Comparator Specimen for Exome Sequencing, Varies).
Additional Testing Requirements
DNA specimens from the patient (proband) and all family member comparators included in the original whole exome sequencing test are required to allow for confirmation of any new reportable variants, based on internal laboratory criteria. For most patients, stored DNA from the original whole exome sequencing test should be available for this testing.
To use stored DNA for this test:
Order WESR / Whole Exome Sequencing Reanalysis, Varies by calling Mayo Clinic Laboratories at 800-533-1710 and requesting that this test be added on to the remaining DNA specimen for the patient (proband). The laboratory will determine if there is sufficient DNA remaining for the proband and all comparators to perform confirmation of any new results. If there is sufficient DNA, the order will proceed.
If the patient and/or family member comparators are found to have an insufficient quantity of stored DNA, follow the instructions below:
1. If there is not sufficient DNA remaining for the patient (proband): If an order for WESR was already placed in the steps above, the order will be canceled and the client notified of the test cancellation. Collect a new proband specimen and order WESR for the new specimen.
2. If there is not sufficient DNA remaining for one or more family member comparators: For the family members who were included as comparators in the original whole exome sequencing test but do not have sufficient stored DNA, collect new comparator specimens and order CMPRE / Family Member Comparator Specimen for Exome Sequencing, Varies for the new specimens.
For more information see Whole Exome and Genome Sequencing Information and Test Ordering Guide.
Shipping Instructions
Specimens are preferred to arrive within 96 hours of collection.
Necessary Information
From the Whole Exome Sequencing: Ordering Checklist, Patient Information is required for all patients.
Complete the following sections on pages 2 through 4:
Patient (Proband) Information
Provide reason for reanalysis request in Reason for Testing
Provide new information in:
Patient (Proband) Suspected Diagnoses
Patient (Proband) Clinical Evaluations
Patient (Proband) Clinical Features
Attach clinic notes and pedigree with any relevant new clinical or family history information.
Fax the paperwork, clinic notes, and pedigree to 507-284-1759, Attn: WES Genetic Counselors.
Specimen Required
For most patients, a new specimen submission will not be required. Testing can be performed using stored DNA from the original whole exome sequencing test. To order testing on the stored specimen, see Additional Testing Requirements.
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.
Submit only 1 of the following specimens:
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 whole blood specimen in original tube. Do not aliquot.
Specimen Stability Information: Ambient (preferred)/Refrigerated
Specimen Type: Skin biopsy
Supplies: Fibroblast Biopsy Transport Media (T115)
Container/Tube: Sterile container with any standard cell culture media (eg, minimal essential media, RPMI 1640). The solution should be supplemented with 1% penicillin and streptomycin.
Specimen Volume: 4-mm punch
Specimen Stability Information: Refrigerated (preferred)/Ambient
Additional Information: A separate culture charge will be assessed under CULFB / Fibroblast Culture for Biochemical or Molecular Testing. An additional 3 to 4 weeks is required to culture fibroblasts before genetic testing can occur.
Specimen Type: Cultured fibroblasts
Container/Tube: T-25 flask
Specimen Volume: 2 Flasks
Collection Instructions: Submit confluent cultured fibroblast cells from a skin biopsy from another laboratory. Cultured cells from a prenatal specimen will not be accepted.
Specimen Stability Information: Ambient (preferred)/Refrigerated (<24 hours)
Additional Information: A separate culture charge will be assessed under CULFB / Fibroblast Culture for Biochemical or Molecular Testing. An additional 3 to 4 weeks is required to culture fibroblasts before genetic testing can occur.
Specimen Type: Blood spot
Supplies: Card-Blood Spot Collection (Filtration Paper) (T493)
Container/Tube:
Preferred: Collection card (Whatman Protein Saver 903 Paper)
Acceptable: PerkinElmer 226 (formerly Ahlstrom 226) filter paper or blood spot collection card
Specimen Volume: 5 Blood spots
Collection Instructions:
1. An alternative blood collection option for a patient older than 1 year is a fingerstick. For detailed instructions, see How to Collect Dried Blood Spot Samples.
2. Let blood dry on the filter paper at ambient temperature in a horizontal position for a minimum of 3 hours.
3. Do not expose specimen to heat or direct sunlight.
4. Do not stack wet specimens.
5. Keep specimen dry
Specimen Stability Information: Ambient (preferred)/Refrigerated
Additional Information:
1. Due to lower concentration of DNA yielded from blood spot, it is possible that additional specimen may be required to complete testing.
2. For collection instructions, see Blood Spot Collection Instructions
3. For collection instructions in Spanish, see Blood Spot Collection Card-Spanish Instructions (T777)
4. For collection instructions in Chinese, see Blood Spot Collection Card-Chinese Instructions (T800)
Specimen Type: Saliva
Patient Preparation: Patient should not eat, drink, smoke, or chew gum 30 minutes prior to collection.
Supplies: Saliva Swab Collection Kit (T786)
Specimen Volume: 1 Swab
Collection Instructions: Collect and send specimen per kit instructions.
Specimen Stability Information: Ambient 30 days
Additional Information: Due to lower concentration of DNA yielded from saliva, it is possible that additional specimen may be required to complete testing.
Forms
1. Whole Exome Sequencing: Ordering Checklist, Patient Information is required.
2. If not ordering electronically, complete, print, and send 1 of the following forms with the specimen:
Useful For
Identifying a diagnosis or additional variants associated with the phenotype in patients who previously have had a negative or inconclusive whole exome sequencing test
Reanalyzing whole exome sequencing data when a patient (proband) presents with new clinical features
Reanalyzing whole exome sequencing data to pick up newly discovered gene-disease associations, changes to variant classification, and bioinformatics pipeline upgrades
Reflex Tests
| Test ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| CULFB | Fibroblast Culture for Genetic Test | Yes | No |
Testing Algorithm
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
Method Name
Reanalysis of Whole Exome Next-Generation Sequencing with Orthogonal Confirmation
Reporting Name
Whole Exome Sequencing ReanalysisSpecimen Type
VariesSpecimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Ambient (preferred) | ||
| Frozen | |||
| Refrigerated | |||
Reject Due To
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.Reference Values
An interpretive report will be provided.
Interpretation
Variants of interest are evaluated according to American College of Medical Genetics and Genomics (ACMG) recommendations.(4) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.
Variants are reported in one of the following categories:
-Likely Causative: variants with a high degree of suspicion for causing the patient's reported clinical features
-Possibly Relevant: variants that may be related to the patient's clinical features or variants in genes of uncertain significance
-Secondary Findings: medically actionable variants unrelated to the indication for testing (see below for additional information)
It is possible that a variant may not be recognized as the underlying cause of disease due to incomplete scientific knowledge about the function of all genes in the human genome or the impact of variants in those genes.
Secondary Findings
Patients are evaluated for medically actionable secondary findings and these findings are reported in accordance with the most current ACMG recommendations, including the most up-to-date gene list.(5) Variants in these genes will not be evaluated or reported if the patient opts out of this evaluation unless they overlap with the patient's reported clinical phenotype.
The opt in or opt out selection from the original whole exome sequencing test will be maintained unless a new Informed Consent form is returned denoting a change in this selection. If the patient originally opted in to receive secondary findings and a secondary finding was originally reported, the status cannot be changed to opt out.
The presence of a variant in family member comparator specimens is stated on the patient's (proband's) report unless family members opt out of secondary findings. If the patient (proband) opts out, secondary findings will not be reported for any family member.
Variants that are present in family members comparators but absent from the patient (proband) are not evaluated.
The absence of a reportable secondary finding does not guarantee that there are no disease-causing or likely disease-causing variants in these genes, as portions of the genes may not be adequately covered by this testing methodology.
Reanalysis and Raw Data Requests
Patient data is not guaranteed to be stored indefinitely. Requests for reanalysis or release of raw data may not be possible, and a new whole exome sequencing order may be required if the original patient data is no longer available or no longer compatible with current bioinformatics processes or analysis tools.
Requests for the raw data obtained from whole exome sequencing should be directed to the laboratory. A separate fee may apply. Raw data will be released for individuals who complete a Mayo Clinic release of information form. If raw data for family member comparators is requested, it will only be released with an accompanying request for the proband's raw data. Contact the laboratory for instructions on completing the release of information form. The laboratory is not responsible for providing software or other tools needed to visualize, filter, or interpret this data.
Day(s) Performed
Varies
Report Available
84 daysPerforming 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. It has not been cleared or approved by the US Food and Drug Administration.CPT Code Information
The first reanalysis: No charge
For all subsequent reanalysis requests: 81417
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| WESR | Whole Exome Sequencing Reanalysis | 86205-2 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 616885 | Interpretation | 69047-9 |
| 616886 | Specimen | 31208-2 |
| 616887 | Source | 31208-2 |
| 616888 | Released By | 18771-6 |