Indications For Microarray

Chromosomal Microarray Analysis has a variety of applications in the diagnosis of genetic disorders. Here are the indications for Chromosomal Microarray Analysis and Reasons for Referral:

Prenatal Diagnosis, Fetal Medicine, Gynecology:
  • Fetal abnormalities discovered through ultrasound scan
  • Ultrasound abnormality
  • Abnormal maternal serum screen
  • Still birth
  • Miscarriage or Spontaneous abortion
  • Family history of a genetic disease detected by CMA

The American College of Obstetricians and Gynecologists (The College) and the Society for Maternal-Fetal Medicine (SMFM) have recommended Chromosomal Microarray Analysis (CMA) as the first-line genetic test in pregnancies showing fetal abnormalities in an ultrasound scan.
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Pediatrics (Neonates and Children with):
  • Mental retardation
  • Developmental delay
  • Multiple congenital anomalies
  • Suspicion of genomic imbalance
  • Autism spectrum disorders
  • Growth delay
  • Speech delay
  • Developmental delay
  • Dysmorphic features
  • Congenital Anomalies
  • Heart Defects
  • Seizures
Cancer:
  • Hematological malignancies
  • Solid Tumors: Renal cell carcinomas
Advanced Genetics:
  • Precise determination of the breakpoints of genomic alterations detected with conventional cytogenetic methods such as karyotype analysis or FISH
  • Suspected whole gene deletion in Mendelian disorders
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