Neurodevelopmental Disorders

Neurodevelopmental disorders (NDDs) affect more than 4.6 million Americans1 and there is a growing body of evidence that shows strong support for the role of genetics in NDDs. To better serve the needs of clinicians and patients, Ambry offers a range of diagnostic testing options for NDDs.

NDDs are disabilities associated primarily with the functioning of the brain and neurological system. Individuals often present with global developmental delays (GDD), intellectual disabilities (ID) and/or characteristics of autism spectrum disorders (ASD). The overlapping and non-specific nature of these symptoms can bring diagnostic challenges, as these clinical signs can exist in combination with other medical concerns or on their own. Making this distinction is a critical step in arriving at an accurate diagnosis.

Test Name Description TAT
Fragile X syndrome FMR1 7-14 days
Rett/Atypical Rett syndrome MECP2, CDKL5, FOXG1, MEF2C 7-42 days
Christianson Syndrome (Angelman-like syndrome) SLC9A6  Sequence analysis 10-21 days
XLID panel 81 genes for X-linked intellectual disability 84-112 days
PTEN-related macrocephaly and autism spectrum disorder PTEN 7-21 days
Autism spectrum disorders FMR1, PTEN, MECP2, CDKL5, FOXG1, MEF2C, chromosomal microarrays (SNP+CGH and 180K oligo options) 7-42 days
Intellectual disability FMR1, XLID panel, chromosomal microarrays (SNP+CGH and 180K oligo options) 7-112 days
Chromosomal microarray SNP+CGH and 180K oligo options 10-21 days
ExomeNext ExomeNext and ExomeNext-Rapid 14-84 days



1. Larson SL, et al. Prevalence of mental retardation and/or developmental disabilities: Analysis of the 1994/1995 NHIS-D. MR/DD Data Brief. Minneapolis, MN: Institute on Community Integration, University of Minnesota. 2000.