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Test Code MTRBM MatePair, Targeted Rearrangements, Hematologic, Varies

Secondary ID


Useful For

Second-tier testing in hematologic specimens when previous cytogenetic or FISH testing have detected an acquired chromosome abnormality of unknown significance


Determining the size, precise breakpoints, gene content, and any unappreciated complexity of abnormalities detected by other methods such as conventional chromosome and FISH studies


Providing important diagnostic, prognostic, and therapeutic information critical to proper patient management

Method Name

Mate-Pair Whole Genome Sequencing

Reporting Name

MatePair, Targeted, Hematologic

Specimen Type


Shipping Instructions

Advise Express Mail or equivalent if not on courier service.

Necessary Information

1. Previous cytogenetic or FISH testing is required in order to perform this test. If previous testing was performed at another institution, submit a copy of the results or the Mate Pair Hematology/Oncology Patient Information (see Special Instructions). Testing will be canceled if sufficient information regarding the patient's known chromosome abnormality is not made available.

2. A reason for referral must be provided for testing to be performed.

3. A pathology report should accompany the specimen. If this information is not available at the time of order, submit as soon as possible for appropriateness of testing and to aid in interpretation of results.

Specimen Required

Submit only 1 of the following specimens:


Specimen Type: Bone marrow

Container/Tube: Green top (sodium heparin)

Specimen Volume: 1-2 mL

Collection Instructions:

1. Invert several times to mix bone marrow.

2. Send specimens in original tubes.


Specimen Type: Whole blood

Container/Tube: Green top (sodium heparin)

Specimen Volume: 7-10 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send specimens in original tubes.

Specimen Minimum Volume

Blood: 2 mL
Bone Marrow: 1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Ambient (preferred)

Reject Due To

All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

Clinical Information

While many hematologic neoplasms (leukemias and lymphomas) have a subset of common or well-characterized acquired chromosome abnormalities, sometimes patients are found to have acquired chromosome abnormalities of uncertain significance. Further characterization of these abnormalities may lead to a better understanding of their pathogenicity and potentially lead to prognostic information or guide treatment and management of the patient.


Mate-pair sequencing is a next-generation sequencing technology that can aid in the further characterization of chromosome abnormalities by sequencing the entire genome and bioinformatically mapping short fragments of the genome to create a structural map of the genome. This technique enables the mapping of chromosome rearrangements to a resolution of approximately 2 kilobases or less, which allows for determination of genes at or near the breakpoints.

Reference Values

An interpretive report will be provided.


The interpretation describes the further characterization of the previously identified acquired abnormality. When possible, the interpretation will state how this finding might be associated with the hematologic process and any potential information on diagnosis, prognosis, and treatment options given the finding.


The continual discovery of novel structural rearrangements and published clinical reports means that the interpretation of any finding may evolve with increased scientific understanding.


Although the presence of a clonal abnormality usually indicates a neoplasia, in some situations it may reflect a benign or constitutional genetic change. If a genetic change is identified that is likely constitutional and clearly pathogenic, follow-up with a medical genetics consultation may be suggested.


The absence of an abnormal clone may be the result of specimen collection from a site that is not involved in the neoplasm or may indicate that the genetic abnormality is not detectable by this assay.

Clinical Reference

1. Vergult S, Van Binsbergen E, Sante T, et al: Mate Pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations. Eur J Hum Genet 2014 May;22(5):652-659

2. Fonseca A, Bonaldi A, Fonseca S, et al: The segregation of different submicroscopic imbalances underlying the clinical variability associates with familial karyotypically balanced translocation. Mol Cytogenet 2015 Dec 30;8:106

Day(s) and Time(s) Performed

Samples processed Monday through Friday. Results reported Monday through Friday, 8 a.m.-5 p.m.

Analytic Time

14 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 U.S. Food and Drug Administration.

CPT Code Information


LOINC Code Information

Test ID Test Order Name Order LOINC Value
MTRBM MatePair, Targeted, Hematologic In Process


Result ID Test Result Name Result LOINC Value
48013 Result Summary 50397-9
48325 Result 48001-2
48014 Nomenclature 62356-1
48015 Interpretation 69965-2
CG987 Reason for Referral 42349-1
CG984 Specimen 31208-2
48018 Source 31208-2
48019 Method 49549-9
48020 Additional Information 48767-8
48022 Released By 18771-6


1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available in Special Instructions:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. Mate Pair Hematology/Oncology Patient Information in Special Instructions

3. If not ordering electronically, complete, print, and send a Hematopathology/Cytogenetics Test Request (T726) with the specimen.

Testing Algorithm

See B-Lymphoblastic Leukemia/Lymphoma Algorithm in Special Instructions