Test Method


CPT Codes


Test Description

Chromosomal microarray (CMA or Molecular karyotype) is an advanced technique in genetic testing that detects copy number changes in a person’s chromosomes at a much higher resolution than conventional chromosome analysis (karyotype). this test can detect gains (duplication) and loss (deletion) of segments of DNA and regions of homozygosity, and it will provide information about the genes involved in regions of copy number alteration. This is an excellent test for the genetic investigation of babies born with congenital anomalies, dysmorphic features or hypotonia.

Specimen Requirements

Submit only 1 of the following specimens:

Specimen Type: Tissue

  • Container/Tube: Formalin-fixed, paraffin-embedded block containing fetal or placental (including chorionic villi) tissue.
  • Additional Information: A pathology report and reason for referral must be submitted 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.

Specimen Type: Slides

  • Specimen Volume: 6 Consecutive, unstained, 5-micron-thick sections placed on positively charged slides and 1 hematoxylin and eosin-stained slide.

Storage & Transport

Ship specimen the same day whenever possible, with refrigerated (not frozen) cold pack.

Label all tubes with at least two unique patient identifiers. Slides require one patient identifier. Identifiers include name, DOB, specimen ID# or medical record#.

Turnaround time

21 - 30 days

Level of Service