Sign in →

Test ID CMACB Chromosomal Microarray, Congenital, Blood

Useful For

First-tier, postnatal testing 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 and Genomics (ACMG)


Follow-up testing 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 fluorescence in situ hybridization (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

Reporting Name

Chromosomal Microarray, Blood

Specimen Type

Whole blood

Shipping Instructions


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.

Specimen Minimum Volume

2 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Whole blood Ambient (preferred)

Reference Values

An interpretive report will be provided.

Day(s) and Time(s) Performed

Specimens are processed Monday through Sunday.

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

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
CMACB Chromosomal Microarray, Blood 62343-9


Result ID Test Result Name Result LOINC Value
52399 Result Summary 50397-9
52400 Result 82939-0
54643 Nomenclature 62378-5
52401 Interpretation 69965-2
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 18771-6

NY State Approved


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, Varies will be performed as the appropriate test.


The following algorithms are available in Special Instructions:

-Epilepsy: Unexplained Refractory and/or Familial Testing Algorithm

-Prader-Willi and Angelman Syndromes: Laboratory Approach to Diagnosis


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. Chromosomal Microarray Patient Information (T665) in Special Instructions

3. Family Member Phenotype Information for Genomic Testing in Special Instructions

4. If not ordering electronically, complete, print, and send a Neurology Specialty Testing Client Test Request (T732) with the specimen.