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Test Code 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.

3. Please complete the Mate Pair Congenital Patient Information sheet.

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 Special Container
Whole blood Ambient (preferred)

Reject Due To

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

Reference Values

An interpretive report will be provided.

Day(s) and Time(s) Performed

Specimens are processed Monday through Friday.

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

Analytic Time

14 days

Specimen Retention Time

4 weeks

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
MTRBL MatePair, Targeted, Congenital In Process


Result ID Test Result Name Result LOINC Value
48003 Result Summary 50397-9
48033 Result 48001-2
48004 Nomenclature 62356-1
48005 Interpretation 69965-2
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 18771-6