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Test ID: MTRBL MatePair, Targeted Rearrangements, Congenital

Useful For

Second-tier testing when previous cytogenetic testing has detected a constitutional/congenital chromosome abnormality of unknown significance

 

Determining the size, precise breakpoints, gene content, and any unappreciated complexity of abnormalities identified by conventional chromosome studies

 

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

Method Name

Mate-Pair Whole Genome Sequencing

Reporting Name

MatePair, Targeted, Congenital

Specimen Type

Whole blood


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


This test requires 2 blood specimens: 1 sodium heparin and 1 EDTA.

 

Specimen Type: Whole blood

Collection Container/Tube: Green top (sodium heparin) and lavender top (EDTA)

Specimen Volume: 3 mL EDTA tube and 4 mL sodium heparin tube

Collection Instructions:

1. Invert several times to mix blood.

2. Send specimens in original tubes.


Specimen Minimum Volume

2 mL

Specimen Stability Information

Specimen Type Temperature Time
Whole blood Ambient (preferred)
  Refrigerated 

Clinical Information

De novo apparently balanced chromosome rearrangements are found in approximately 1 in 1,000 individuals. Although they appear balanced at the level of resolution from a G-banded chromosome analysis, 6% of these individuals have an abnormal phenotype that is twice the background risk. This has led to speculation that submicroscopic gene disruption or dysregulation may explain the abnormal phenotype in these individuals.

 

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 chromosome abnormality. When possible the interpretation will state how this finding might be associated with the patient's abnormal phenotype.

 

The continual discovery of novel genes, gene functions, and published clinical reports means that the interpretation of any finding may evolve with increased scientific understanding.

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

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

0012U

LOINC Code Information

Test ID Test Order Name Order LOINC Value
MTRBL MatePair, Targeted, Congenital In Process

 

Result ID Test Result Name Result LOINC Value
48003 Result Summary 50397-9
48033 Result In Process
48004 Nomenclature In Process
48005 Interpretation In Process
CG982 Reason for Referral 42349-1
48007 Specimen 31208-2
48008 Source 31208-2
48009 Method 49549-9
48010 Additional Information 48767-8
48012 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.

Mayo Medical Laboratories | Genetics and Pharmacogenomics Catalog Additional Information:

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