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.

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

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. For instructions for testing patients who have received a bone marrow transplant, call 800-533-1710.

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

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 inadequate.

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 fibroblast

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: 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 quantity/quality of DNA yielded from saliva, some aspects of the test may not perform as well as DNA extracted from a whole blood sample. When applicable, specific gene regions that were unable to be interrogated will be noted in the report. Alternatively, additional specimen may be required to complete testing.

Specimen Type: Muscle tissue biopsy

Supplies: Muscle Biopsy Kit (T541)

Collection Instructions: Prepare and transport specimen per instructions in Muscle Biopsy Specimen Preparation Instructions.

Specimen Volume: 10 to 80 mg

Specimen Stability Information: Frozen (preferred)/Ambient/Refrigerated