In 2020, the American Academy of Pediatrics (AAP) published a clinical report on promoting optimal development in young children with NDDs using³:
- laboratory testing for children with intellectual disability (ID), global developmental delay (GDD), or autism spectrum disorders (ASD)
- should include chromosomal microarray and fragile X testing
- possible further testing with gene panels and whole exome sequencing
Packaged tests, personalized results
Confidently identify the best course of action for your patient’s unique needs. The NDD Package uses three methods of detection to explore a variety of gene variants that may not be offered by individual tests.
Evaluates for submicroscopic chromosomal gains and losses that cannot be detected using karyotype, whole and segmental aneuploidies, and regions of homozygosity.
Sequencing and NGS-based copy number variant (CNV) analysis of >240 genes including CNVs in single exons that whole exome sequencing might miss.4
Offers analysis of trinucleotide (CGG) repeat expansions in the FMR1 gene. Pathogenic repeat expansions in FMR1 are the most common cause of Fragile X Syndrome.
Get more value from genetic testing
Starting the diagnostic journey with a clear direction can reduce excess time, money, and stress while you pursue the root causes of your patient’s needs.
Genetic testing can inform care decisions, including whether to pursue:
- certain treatments and therapies
- intervention programs
- specialized care
Genetic testing can lead to better outcomes and earlier intervention
Convenient specimen options
Blood and buccal swabs accepted. We can even ship collection kits to your patients’ homes to remove potential barriers.
Reliable results, fast
Receive test reports within ~10–21 days, allowing potentially actionable conditions to be identified as early as possible.
Actionable clinical test reports
Clearly communicate results, next steps, clinical summaries, and detailed information about genetic evidence used to classify variants.