Neurological regression involves the loss of previously achieved developmental milestones. Different progressive encephalopathies are included under this concept. Within this broad group there are some inborn errors of metabolism, different diffuse encephalopathies, white matter disorders (leukodystrophies), diseases of the cerebral cortex, basal ganglia or certain spinocerebellar disorders.
Regression is a characteristic clinical sign, which can serve as a guiding clinical sign in the diagnostic process among the multiple known neurodevelopmental disorders. This service would be recommended when a global developmental delay or an intellectual disability and clinical signs of neurological regression are evident, thus focusing the study on a more specific group of disorders. Genetic diagnosis is very useful to reach a definitive diagnosis and convey prognostic information to families.
The benefits derived from a genetic diagnosis in this context are especially aimed at closing the diagnosis, enriching the prognostic information about the patient and in some cases, adapting the patient’s treatment. Likewise, they are used for family genetic counseling.
Recommended service when neurological regression is noted in the clinical history. It would be indicated in parallel to the rest of the initial complementary examinations with the aim of shortening response times.
1) Download & fill out
Please cover as many fields as possible in both documents
2) Sample collection
See sample types in the guidelines
3) Pack the sample
Please pack the sample in a way to prevent leakage
4) Send the sample & the request
Please schedule the delivery for Monday–Friday: 8am – 5pm
5) Result: the report
Via: e-mail and/or through the customer portal
"*" indicates required fields
Turnaround time (TAT): 25 days
Ref. S-202314039
Virtual panel based on whole exome sequencing, aimed at the analysis of all genes with moderate, high and low evidence related to neurological regression.
Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.
