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Test Code MISCLM Chromosomal Microarray, Congenital, Blood

Additional Codes

MAYO Test ID
CMACB
EPIC Test ID
LAB2608

 

Useful For

First-tier, postnatal test for individuals with multiple anomalies that are not specific to well-delineated genetic syndromes, apparently nonsyndromic developmental delay or intellectual disability, or autism spectrum disorders as recommended by the American College of Medical Genetics (ACMG)

 

An appropriate follow-up test for individuals with unexplained developmental delay or intellectual disability, autism spectrum disorders, or congenital anomalies with a previously normal conventional chromosome study

 

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

 

Determining if apparently balanced abnormalities identified by previous conventional chromosome studies have cryptic imbalances, since a proportion of such rearrangements that appear balanced at the resolution of a chromosome study are actually unbalanced when analyzed by higher-resolution chromosomal microarray

 

Assessing regions of homozygosity related to uniparental disomy or identity by descent

Method Name

Chromosomal Microarray (CMA) Using Affymetrix Cytoscan HD

Reporting Name

Chromosomal Microarray, Blood

Specimen Type

Whole blood


Shipping Instructions


Specimens must arrive within 96 hours of draw.



Necessary Information


The reason for referral is required.



Specimen Required


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

Specimen Type: Whole blood

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.

Additional Information: As a participant in the International Standard Cytogenomic Array Consortium, patients may request to opt-out. See Chromosomal Microarray Testing and the ISCA Consortium Database patient education flyer under Special Instructions.


Specimen Minimum Volume

2 mL

Specimen Stability Information

Specimen Type Temperature Time
Whole blood Ambient (preferred)
  Refrigerated 

Reject Due To

No specimen should be rejected.

Reference Values

An interpretive report will be provided.

Day(s) and Time(s) Performed

Samples processed Monday through Sunday. Results reported Monday through Friday; 8 a.m.-5 p.m. CST.

Analytic Time

8 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

81229

LOINC Code Information

Test ID Test Order Name Order LOINC Value
CMACB Chromosomal Microarray, Blood In Process

 

Result ID Test Result Name Result LOINC Value
52399 Result Summary 50397-9
52400 Result In Process
54643 Nomenclature In Process
52401 Interpretation In Process
CG779 Reason For Referral 42349-1
54713 Specimen 31208-2
52402 Source 31208-2
52403 Method 49549-9
55128 Additional Information 48767-8
52404 Released By No LOINC Needed

Testing Algorithm

This test is not appropriate for detecting acquired copy number changes and excessive homozygosity. If this test is ordered with a reason for referral indicating a hematological disorder, the test will be cancelled and CMAH / Chromosomal Microarray, Hematologic Disorders will be performed as the appropriate test.

Forms

1. 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.

2. Chromosomal Microarray Patient Information (T665) in Special Instructions

3. If not ordering electronically, complete, print, and send a Neurology Specialty Testing Client Test Request (T732) with the specimen (http://www.mayomedicallaboratories.com/it-mmfiles/neurology-request-form.pdf)