Home
HelpTest 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
Special Instructions
- Informed Consent for Genetic Testing
- Prader-Willi and Angelman Syndromes: Laboratory Approach to Diagnosis
- Chromosomal Microarray Patient Information
- GenomeConnect Patient Portal
- Family Member Phenotype Information for Genomic Testing
- Epilepsy: Unexplained Refractory and/or Familial Testing Algorithm
- Informed Consent for Genetic Testing (Spanish)
Method Name
Chromosomal Microarray
Reporting Name
Chromosomal Microarray, BloodSpecimen Type
Whole bloodShipping 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) | ||
| Refrigerated | |||
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
81229
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
YesTesting 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
Forms
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.