Neurodevelopmental disorders (NDDs) affect more than 4.6 million Americans 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, we offer 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). Epilepsy can also be common.
We offer a range of single syndrome testing and multi-gene panels for individuals with neurodevelopmental disorders (listed in blue below). These and many of our other tests can be combined to meet the individual needs of patients and their families.
Our Neurodevelopmental Testing Includes:
|Test Name||Turnaround Time|
|SNP Array||2-3 weeks|
|Fragile X-associated disorders||1-2 weeks|
(140 gene panel for syndromic and non-syndromic ID)
(16 genes, ACMG-recognized syndromes)
(48 genes, syndromic and non-syndromic autism)
(22 genes for Rett, Angelman and related disorders)
(196 gene panel for ID, ASD and epilepsy)
(MECP2 gene sequencing and deletion/duplication)
(methylation studies with reflex to UBE3A gene sequencing
|PTEN-related disorders||1-3 weeks|
(rapid option is 2-5 weeks)