Chromosomal microarray

Our collaborative approach to genetic testing and incorporation of companion genetic services provides enables a more detailed understanding of a patient’s genetic profile.

• Manual review of software output.
• Examination of every copy number finding, regardless of size.
• Integration of historical data on common benign polymorphisms and previously reported abnormalities.
• Accurate, up-to-date abnormality classification through extensive literature and database review.
• Performance of parental studies, when necessary, to determine if the chromosomal abnormality is inherited or de novo; benign or pathogenic; and if future pregnancies are at risk.
• Determination of maternal cell contamination to assess if fetal (not maternal) DNA is available for analysis from prenatal specimens.

Key testing

• CMACB | Chromosomal Microarray, Congenital, Blood
  • Can be used as a first-tier, post-natal test for individuals with multiple abnormalities not specific to well-delineated genetic syndromes, apparently nonsyndromic developmental delay or intellectual disability, or autism spectrum disorders.
  • Useful as a follow-up test for individuals with congenital abnormalities with a previously normal conventional chromosome study.
• CMAP | Chromosomal Microarray, Prenatal, Amniotic Fluid/Chorionic Villus Sampling
  • Clarifies findings in patients with a pregnancy demonstrating one or more structural abnormalities on ultrasound when undergoing invasive prenatal diagnosis.
  • Recommended by the American College of Obstetricians and Gynecologists and Society for Maternal-Fetal Medicine.
• CMAPC | Chromosomal Microarray, Autopsy, Products of Conception, or Stillbirth, Varies
• CMAMT | Chromosomal Microarray, Autopsy/Products of Conception/Stillbirth, Tissue
  • Can assist in detecting causative abnormalities in cases of intrauterine fetal demise or stillbirth.
  • Increases the success rate of obtaining results and improves detection.
  • Is available on both fresh and formalin-fixed, paraffin-embedded tissue to expand clinical situations in which testing can be used.