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
For more information on our Buccal Swap option, or to order a kit, please call our Client Services Team at 949.255.0920 or
CombiMatrix also offers the following tests to better support your patients’ needs:
- Fragile X analysis
- Customized FISH analysis