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.