CMA reflex to ExomeDx™

Chromosomal Microarray (CMA) with reflex to ExomeDxTM, trio if CMA does not sufficiently account for the patient’s phenotype.

Test Overview

Clinical Utility

  • Determination of a molecular diagnosis 
  • Identification of a gene implicated in genetic disease 
  • In patients with: 
    • One or more congenital anomalies1 
    • Neurodevelopmental disorders including developmental delay, intellectual disability, and autism spectrum disorder1-3 
    • Unexplained epilepsy4 
    • A phenotype suggestive of a genetic etiology but that does not correspond to a specific condition for which genetic testing is available5 
    • A suspected genetic condition that has a high degree of genetic heterogeneity5 
    • A suspected genetic condition for which other available genetic testing options did not identify a diagnosis5 
    • Recurrence risk assessment 

References: 

  1. Manickam K et al. (2021) Genet Med. 23 (11):2029-2037 (PMID: 34211152) 
  2. Srivastava S et al. (2019) Genet Med. 21 (11):2413-2421 (PMID: 31182824) 
  3. Rodan LH et al. (2025) Pediatrics. (PMID: 40545261) 
  4. Smith L et al. (2023) J Genet Couns. 32 (2):266-280 (PMID: 36281494) 
  5. ACMG Board of Directors (2012) Genet Med. 14 (8):759-61 (PMID: 22863877) 

Test Details

Lab Method

  • Next-Gen Sequencing
  • Whole Genome Chromosomal Microarray

Ordering Information

Important Information

Important Information: Chromosomal Microarray (CMA) with reflex to ExomeDxTM, trio if CMA does not sufficiently account for the patient’s phenotype. A second report will be issued if the reflex is activated. 

Samples on the proband and both family members should be submitted at the same time, along with clinical information. If family member samples are not submitted with the proband sample, the indicated family member samples MUST BE RECEIVED WITHIN 3 WEEKS. 

If samples from the indicated family members are not received within the specified timeframe, the test code will be modified to reflect the samples received and testing will be activated.  

Modifications to the test code may impact billing and any prior cost estimates. 

Family member samples submitted for testing should be labeled with the name and date of birth of the person whose sample is contained in the tube, as well as the date of collection. 

To ensure that family members are linked properly and in a timely manner, be sure to provide the following information on the test order and Sample Info Card submitted with the sample: 

  • Family member Name 
  • Family member Date of Birth 
  • Patient's Name 
  • Patient's Date of Birth 
  • Family member's relationship to patient 
Trio — Test Code: _910_561a · CPT Codes*: ExomeDx™ 81415x1, 81416x1; CMA 81229x1;
Duo — Test Code: _910_561e · CPT Codes*: ExomeDx™ 81415x1, 81416x1; CMA 81229x1;
Proband — Test Code: _910_561b · CPT Codes*: ExomeDx™ 81415x1; CMA 81229x1
ABN Required: No
Turnaround Time**: CMA 3 weeks; reflex to ExomeDx™ as soon as 2 weeks
Accepted Specimens:

2-5 mL Blood - Lavender Top Tube, Buccal Swabs, DNA, Skin Punch, Cultured Fibroblasts

Please visit the specimen requirements for more detailed information or contact us with questions.

Resources

Test Documents

Billing

Targeted Variant Testing

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