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Today's chromosomal disorder testing is more sensitive than ever. For example, Microarray analysis has a much higher resolution than traditional cytogenetic testing.  In fact, microarray analysis more than doubles the detection rate of chromosomal disorders compared to high-resolution karyotyping and subtelomere FISH combined.  When parents of children with developmental challenges want or need to know if their child has a condition that is caused by a chromosome abnormality, our CombiSNPTM pediatric microarray analysis can help.

When to Consider Pediatric Microarray Analysis?

The American College of Medical Genetics recommends that microarray analysis be used as a first-tier test in lieu of high-resolution karyotyping in individuals with:

  • Developmental delays or intellectual disabilities
  • Congenital anomalies
  • Dysmorphic features
  • Autism and autism spectrum disorders
  • Other potential disorders such as seizures and AD/HA disorders
 

The benefits of CombiSNP microarray test for Pediatric Developmental Disorders include:

  • Determining the size and gene content of cop number variation (CNVs)
  • Identifying regions of homozygosity, which may suggest shared ancestry and an increased risk for autosomal recessive disorders
  • Uniparental disomy, which can indicate and imprinting disorder

The Buccal Swab Option
Our  a convenient buccal swab kit is a convenient alternative to obtaining a blood sample for patients undergoing pediatric microarray analysis. While blood remains the preferred sample, there are a number of reasons why patients may prefer the Buccal Swab option.

  • Allows clinicians without in-house phlebotomy services to provide convenient, point-of-care sample collection
  • Frees patients from a second trip for the patients to an off-site draw station
  • Offers an excellent alternative for difficult-to-draw patients, or for those who are not scheduled for additional blood work at the time of their visit
  • Opens up new testing avenues for general practitioners, pediatricians, child neurologists, behavioral pediatricians, and other office-based physicians

Pediatric Literature:

Pediatric Diagnosis
Test Menu

For more information on our Buccal Swap option, or to order a kit, please call our Client Services Team at 949.255.0920 or

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CombiMatrix also offers the following tests to better support your patients’ needs:

  • Fragile X analysis
  • Customized FISH analysis