Genes, Genomes Neurogenomics
Gathering information about our genome contributes to personalized diagnostic and treatment services. Neurogenomics is the study of how the genome as a whole contributes to the development, structure and function of the nervous system. Our nervous system is the complex network of nerves and cells that carry messages to and from the brain and spinal cord to various parts of our bodies.
Testing our genes can help patients and healthcare professionals gain more information about neurological, neurobehavioral, neurodevelopmental and neurobehavioral disorders. Genetic testing can:
Identify or confirm a diagnosis
Uncover a hidden biological cause
Medical interventions matched to genetics
Uncover genetic risk factors
Discussion of clinical findings with family
Suggestions for other diagnostic testing
Testing Benefits for Many People
Almost anyone can benefit from genetic testing. It helps for people with established diagnoses and for those with unexplained or poorly treated neurological, neurobehavioral or related signs and symptoms. Genetics is a rapidly changing field. Therefore, it is important to review and reanalyze genetic test results for those who have been previously tested. Consider it for those with recent test results who may want more in depth results.
Our Approach to Genetic Testing
At NeurAbilities Healthcare, we go beyond the standard reports issued by genetic laboratories that may be non-specific and confusing. We provide consultations for healthcare providers with our experts, to review and analyze genetic findings:
Review clinical history & symptoms
Advise next steps for genetic testing
Assist with ongoing management of complex genetic findings
Peer to Peer P2P Physician Services
Remote teleconferences for healthcare providers to meet and review genetic testing results can be scheduled. The clinical history and significant genetic findings will be reviewed, including potentially effective treatments, other diagnostic tests to consider, how test results might alter differential diagnoses, and other important translational information. NeurAbilities Healthcare will take the raw DNA sequencing data files and utilize a proprietary bioinformatics program to identify potentially significant genetic variants. We will analyze these variants and classify them based on various pathological characteristics and clinical relevance.
Telemedicine Services for Patients
We may be able to provide a telemedicine consult directly with patients. This is a service that is available in select states, to explain more than the typical standard report.
Frequently Asked Questions Part 1
Conditions that commonly are referred to genetics in a neurology setting include:
- Neurodevelopmental and neurological disorders such as Autism Spectrum Disorder, ADHD, intellectual disability, cerebral palsy, epilepsy/seizures, learning disorders, etc.
- Functional disorders – disorders that effect the way you function each day – such as migraine, chronic fatigue/pain, dysautonomia, cyclical vomiting syndrome, gastrointestinal disorders, Mast Cell Activation Syndrome (MCAS), Postural Orthostatic Tachycardia Syndrome (POTS), Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections (PANDAS)/ Pediatric Acute-Onset Neuropsychiatric Syndrome (PANS)/ Childhood Acute Neuropsychiatric Syndrome (CANS), and more.
- Neuropsychiatric disorders such as major depression and generalized anxiety.
- Individuals with complex symptoms and signs without a definitive diagnosis.
- Rare disorders
Family history of the same or similar symptoms is also indicative for genetic testing.
Yes! In fact, our geneticist is known to look beyond the genetic testing reports, by reanalyzing the raw genomic data to determine a possible cause for symptoms. There are tens of thousands of sequence variants in every person. Laboratories are constrained by interpreting and reporting abnormal genetic variants in the context of previously reported findings. Because our medical geneticist re-evaluates the raw genomic information in the context of an in-depth analysis of our clinical information, it is common for our medical geneticist to identify “treatable” genetic abnormalities that are not on the laboratory report.
The NeurAbilities geneticist will look through the over 3.1 billion base pairs and 20,000+ genes in the Whole Genome/Exome Sequence (WGS/WES) while comparing it to your/your child’s clinical symptoms and findings to identify genetic diagnoses and provide information that can change clinical management. In many cases, our medical geneticist can identify variants in the raw data that the lab did not report. There is a chance that such variants could cause or contribute to you/your child’s diagnosis.
Frequently Asked Questions Part 2
Having access to the combined expertise of our medical geneticist and neurologist, working as a team, gives you unparalleled insight into your medical condition. Taking the extra step to reanalyze your genomic data is unique to our program, and can lead to changes in clinical management and treatment. In some cases, a genetic diagnosis will end a long “diagnostic journey” and avoid many additional and unnecessary invasive and non-invasive diagnostic tests. In other cases, genetic information will inform clinicians about treatment options that would not otherwise have been considered.
Genetic testing can be cost effective when compared to other forms of diagnostic testing. Genetic laboratories vary in pricing and test offerings. As genetic sequencing technologies advance, costs have precipitously dropped. What was once in the tens of thousands of dollars 10 years ago, can now range from as low as hundreds to a couple thousand dollars. Additionally, genetic testing may be covered by your medical insurance.
Neurogenomics Payment Portal
“Sara’s son has a rare genetic defect that was discovered at NeurAbilities through genetic testing. This allowed them to receive a proper diagnosis and a targeted treatment plan…”
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