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.
|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.