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

  • Bone marrow aspirate: 1-2 mL in EDTA tube (purple top) preferred; ACD (yellow top) acceptable
  • Peripheral blood: 5-10 mL in EDTA tube (purple top) preferred; ACD (yellow top) acceptable
  • Fresh Tissue: Minimum of 250 mg tissue in RPMI transport media
  • Formalin-Fixed Paraffin-Embedded Tissue: 1 H&E slide and 6-8 unstained slides, 5-7 microns of BM clot or tissue fixed with 10% NBF fixative. Please circle tumor for microdissection. alternatively, the FFPE clock of the BM clot can be sent for sectioning in our lab

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

5 - 7 days

Level of Service