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Test Code MTRBM MatePair, Targeted Rearrangements, Hematologic

Secondary ID

64935

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

Varies


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, supply a copy of those results. If sufficient information regarding the patient's known chromosome abnormality is not made available, this testing will be cancelled.

2. Provide a reason for referral with each specimen. The laboratory will not reject testing if this information is not provided, but appropriate testing and interpretation may be compromised or delayed.



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
Varies Ambient (preferred)
  Refrigerated 

Reject Due To

No specimen should be rejected.

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.

Interpretation

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 pari 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 Medical 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

0014U

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 In Process
48014 Nomenclature In Process
48015 Interpretation In Process
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 In Process

Forms

New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (T576) is available in Special Instructions.

Testing Algorithm

See B-Lymphoblastic Leukemia/Lymphoma Algorithm in Special Instructions