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Test 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

To order whole genome sequencing for the patient and the family member comparator specimens, see the following steps:

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.

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


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. 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.

Useful For

Submitting a biological family member's specimen to be used as a comparator for affected patients (probands) undergoing whole genome sequencing

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 Genome

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

70 to 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.

LOINC Code Information

Test ID Test Order Name Order LOINC Value
CMPRG Family Member Comparator for Genome 86206-0


Result ID Test Result Name Result LOINC Value
614930 Interpretation 69047-9
614931 Specimen 31208-2
614932 Source 31208-2
614941 Released By 18771-6