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Test ID WGSR Whole Genome Sequencing Reanalysis, Varies

Ordering Guidance

This test is only appropriate for patients who have previously had WGSDX / Whole Genome Sequencing for Hereditary Disorders, Varies performed by Mayo Clinic Laboratories.


This test is for affected patients (probands) only. This test does not need to be ordered for family member comparators (CMPRG / Family Member Comparator Specimen for Genome Sequencing, Varies).

Additional Testing Requirements

DNA specimens from the patient (proband) and all family member comparators included in the original whole genome 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 genome sequencing test should be available for this testing.


To use stored DNA for this test:

Order WGSR / Whole Genome Sequencing Reanalysis, Varies. By calling Mayo Clinic Laboratories at 800-533-1710 to request 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 WGSR 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 WGSR 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 genome sequencing test but do not have sufficient stored DNA, collect new comparator specimens and order CMPRG / Family Member Comparator Specimen for Genome Sequencing, Varies for the new specimens.

Shipping Instructions

Specimens are preferred to arrive within 96 hours of collection.

Necessary Information

Whole Genome Sequencing: Ordering Checklist is required for all patients. Complete the following sections on pages 2 through 4:

Patient (Proband) Information

Reason for Testing: provide reason for reanalysis request

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: WGS 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 genome 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.


Specimen Type: Whole blood


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.


1. Whole Genome Sequencing: Ordering Checklist is required.

2. If not ordering electronically, complete, print, and send a Neurology Specialty Testing Client Test Request (T732) 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 genome sequencing test


Reanalyzing whole genome sequencing data when a patient (proband) presents with new clinical features


Reanalyzing whole genome sequencing data to pick up newly discovered gene-disease associations, changes to variant classification, and bioinformatics pipeline upgrades

Method Name

Reanalysis of Whole Genome Next-Generation Sequencing followed by Sanger Sequencing, Quantitative Polymerase Chain Reaction (qPCR), or other methods, as needed

Reporting Name

Whole Genome Sequencing Reanalysis

Specimen Type


Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Ambient (preferred)

Reference Values

An interpretive report will be provided

Day(s) Performed


Report Available

84 days

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 US Food and Drug Administration.

CPT Code Information

First reanalysis: No charge

81427-For all subsequent reanalysis requests

LOINC Code Information

Test ID Test Order Name Order LOINC Value
WGSR Whole Genome Sequencing Reanalysis 86206-0


Result ID Test Result Name Result LOINC Value
618564 Interpretation 69047-9
618565 Specimen 31208-2
618566 Source 31208-2
618567 Released By 18771-6