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HelpTest ID CMPRG Family Member Comparator Specimen for Genome Sequencing, Varies
Ordering Guidance
This test is not appropriate for affected patients (probands) undergoing whole genome sequencing (WGS). This test is intended to be ordered for biological family member comparator specimens only. For WGS testing for the proband, order WGSDX / Whole Genome Sequencing for Hereditary Disorders, Varies. If this test is ordered on a proband, the test will be canceled and WGSDX will be performed as the appropriate test.
If this test is ordered on a family member comparator of a proband having WESDX / Whole Exome Sequencing for Hereditary Disorders, Varies; or WESMT / Whole Exome and Mitochondrial Genome Sequencing, Varies, this test will be canceled and CMPRE / Family Member Comparator Specimen for Exome Sequencing, Varies performed as the appropriate test.
Each specimen must be on a separate order.
Additional Testing Requirements
1. Order WGSDX / Whole Genome Sequencing for Hereditary Disorders, Varies on the patient (proband).
2. Order this test on all family members' specimens being submitted as comparators.
a. When available, the patient's biological mother and biological father are the preferred family member comparators.
b. If one or both of the patient's biological parents are not available for testing, specimens from other first-degree relatives (siblings or children) can be used as comparators. Testing typically includes up to 2 family member comparators. Contact the laboratory at 800-533-1710 for approval to send specimens from other relatives or to send the patient and 3 first-degree relatives (quad).
c. The cost of analysis for family member comparator specimens is applied to the patient's (proband's) test. Family members will not be charged separately.
3. Collect patient (proband) and family member specimens. Label specimens with full name and birthdate. Do not label family members' specimens with the proband's name.
4. For each family, complete the following portions of the Whole Genome Sequencing: Ordering Checklist. A separate form is not needed for each family member.
a. Patient Information is required for all clients.
b. Informed Consent is required for New York State clients.
c. If the patient wishes to opt-out of receiving secondary findings or change the DNA storage selection, select the appropriate boxes in the Informed Consent section.
5. Attach clinic notes from specialists relevant to patient's clinical features, if available.
6. Attach pedigree, if available.
7. Send paperwork to the laboratory along with the specimens. If not sent with the specimens, fax a copy of the paperwork to 507-284-1759, Attn: WGS Genetic Counselors.
For more information see Whole Exome and Genome Sequencing Information and Test Ordering Guide.
Shipping Instructions
Specimen preferred to arrive within 96 hours of collection.
Necessary Information
Whole Genome Sequencing: Ordering Checklist is required for all clients, and Informed Consent is required for New York clients. Fill out one form for the family and send with the specimens.
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 whole blood specimen in original tube. Do not aliquot.
Forms
1. Whole Genome Sequencing: Ordering Checklist is required.
2. New York Clients-Informed consent is required, included in the above form. Document on the request form or electronic order that a copy is on file.
Secondary ID
614611Useful For
Submitting a biological family member's specimen to be used as a comparator for affected patients (probands) undergoing whole genome sequencing
Special Instructions
Method Name
Polymerase Chain Reaction-Free Next-Generation Sequencing followed by Sanger Sequencing, Quantitative Polymerase Chain Reaction (qPCR), or other methods, as needed
Reporting Name
Family Member Comparator for GenomeSpecimen Type
VariesSpecimen Minimum Volume
1 mL
Specimen Stability Information
| Specimen Type | Temperature | Time |
|---|---|---|
| Varies | Ambient (preferred) | |
| Frozen | ||
| Refrigerated | ||
Clinical Information
This test uses next-generation sequencing technology to assess the genome of patients with suspected underlying genetic disorders. This information is used to assist in the interpretation of the patient's (proband's) whole genome sequencing results (WGSDX / Whole Genome Sequencing for Hereditary Disorders, Varies). Ordering this test on biological family members of the affected proband can help determine the inheritance of genetic variants that are identified and if the variants segregate with a phenotype in the family. Submitting comparator samples from biological family members increases the chance of identifying a diagnosis in the proband. Whole genome sequencing is most informative when samples from both biological parents are used as comparators. Therefore, it is highly recommended that samples are also submitted from the patient's biological mother and biological father.
If more than 2 biological family member comparator specimens are submitted, the additional comparator specimens may not be fully sequenced but rather used for confirmatory presence or absence of identified variants of interest after initial variant calling and review.
Reference Values
An interpretive report will be provided
Cautions
This testing is intended to be used for biological family members whose specimens are being submitted as comparators for affected patients (probands) undergoing whole genome sequencing. Although test results will only be provided in the context of the proband, it is possible for family members serving as comparators to learn unexpected genetic information about themselves. For example, it is possible for individuals to learn that they carry certain genetic variants that are being reported in the proband, or that biological relationships are not as described.
It is not a guarantee that patient data will be stored indefinitely.
If the patient has had an allogeneic hematopoietic stem cell transplant or a recent blood transfusion, results may be inaccurate due to the presence of donor DNA. Call Mayo Clinic Laboratories at 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.
Day(s) Performed
Varies
Report Available
70 to 84 daysPerforming Laboratory
Mayo Clinic Laboratories in Rochester