Neurological disorders can be caused by genetic mutations affecting the nervous system, leading to conditions such as epilepsy, movement disorders, neurodegenerative diseases, and neuropathies. Identifying the genetic basis of these conditions is crucial for early diagnosis, treatment planning, and family risk assessment.
Comprehensive Neurology Genetic Testing uses Next-Generation Sequencing (NGS) and Whole Exome Sequencing (WES) to analyze multiple genes associated with neurological conditions in a single test. This advanced approach provides a precise diagnosis, guiding personalized treatment strategies.
Genetic testing may be beneficial for individuals with:
- Unexplained neurological symptoms such as seizures, tremors, or muscle weakness
- A family history of neurological disorders
- Early-onset neurodegenerative conditions
- Developmental delays or intellectual disabilities
- Progressive movement disorders
- Neuromuscular disorders such as muscular dystrophy or neuropathy
Our comprehensive panel screens for a wide range of neurological conditions, including but not limited to:
Epilepsy & Seizure Disorders
- Dravet Syndrome (SCN1A gene)
- Lennox-Gastaut Syndrome
- Childhood Absence Epilepsy
- Genetic Generalized Epilepsy
Neurodegenerative Diseases
- Alzheimer’s Disease (APOE, PSEN1, PSEN2)
- Parkinson’s Disease (LRRK2, SNCA)
- Amyotrophic Lateral Sclerosis (ALS) (SOD1, FUS, TARDBP)
- Huntington’s Disease (HTT gene mutation)
Neuromuscular & Peripheral Nerve Disorders
- Charcot-Marie-Tooth Disease (CMT1A, CMT2)
- Duchenne and Becker Muscular Dystrophy (DMD gene)
- Spinal Muscular Atrophy (SMA) (SMN1, SMN2)
- Myasthenia Gravis
Movement Disorders
- Dystonia (DYT1, THAP1)
- Essential Tremor
- Hereditary Spastic Paraplegia
Autism Spectrum & Neurodevelopmental Disorders
- Rett Syndrome (MECP2)
- Fragile X Syndrome (FMR1)
- Angelman Syndrome
- Intellectual Disabilities with known genetic mutations
Demyelinating & Neuroinflammatory Diseases
- Multiple Sclerosis (MS susceptibility genes)
- Leukodystrophies
- Autoimmune Encephalopathy
- Sample Collection – A simple blood or saliva sample is collected.
- Genetic Sequencing – Using state-of-the-art NGS technology, we analyze DNA for mutations in targeted neurological genes.
- Bioinformatics Analysis – Advanced AI-driven tools interpret results to detect pathogenic variants.
- Expert Interpretation – A board-certified geneticist reviews and validates the findings.
- Clinical Report & Consultation – A detailed report is provided to your physician for personalized treatment planning.
Early & Accurate Diagnosis – Detects genetic causes before symptoms progress. Targeted Treatment Options – Helps personalize medical interventions based on genetic findings. Family Risk Assessment – Identifies hereditary risks for family members. Better Disease Management – Helps predict disease progression and prognosis. Access to Clinical Trials – Provides eligibility for new treatments and research studies.
Interpreting the Test Results
- Pathogenic Variant Identified – A known disease-causing mutation is detected, guiding treatment decisions.
- Likely Pathogenic Variant – A probable mutation is found, requiring further clinical correlation.
- Variant of Uncertain Significance (VUS) – Further testing or family studies may be needed.
- No Pathogenic Variants Detected – Does not rule out the disease but reduces genetic risk probability.
After receiving your results, your healthcare provider may:
- Recommend lifestyle changes or medications tailored to your genetic profile.
- Refer you to genetic counseling for a better understanding of inherited risks.
- Suggest additional testing if further analysis is needed.
- Discuss preventive strategies or clinical trial opportunities.
Insurance & Cost Information
Many insurance providers cover genetic testing for neurological conditions based on medical necessity. Our team can assist with pre-authorization and billing inquiries to determine coverage options.
CGx (Hereditary Cancer Genomics) Testing is a specialized genetic test that analyzes inherited genetic mutations that may increase an individual’s risk for developing certain types of cancer. Using Next-Generation Sequencing (NGS), this test examines genes known to be associated with hereditary cancer syndromes, providing valuable insight into cancer risk assessment, early detection, and personalized treatment strategies.
You may benefit from CGx testing if you have:
✅ A personal or family history of cancer diagnosed before the age of 50
✅ A family history of multiple cases of the same type of cancer
✅ A known genetic mutation (e.g., BRCA1/BRCA2) in your family
✅ A personal history of multiple primary cancers
✅ A rare or unusual type of cancer, such as male breast cancer or ovarian cancer
✅ Ashkenazi Jewish ancestry, which is linked to a higher prevalence of BRCA mutations
CGx testing helps identify inherited gene mutations linked to several types of hereditary cancers, including:
- Breast & Ovarian Cancer
- BRCA1 & BRCA2 mutations (Hereditary Breast and Ovarian Cancer Syndrome – HBOC)
- PALB2, ATM, CHEK2, RAD51D mutations
- TP53 (Li-Fraumeni Syndrome)
- Colorectal & Gastrointestinal Cancer
- APC (Familial Adenomatous Polyposis – FAP)
- MLH1, MSH2, MSH6, PMS2 (Lynch Syndrome)
- STK11 (Peutz-Jeghers Syndrome)
- Prostate Cancer
- BRCA2, HOXB13 mutations
- ATM, CHEK2, NBN mutations
- Pancreatic Cancer
- BRCA1, BRCA2, ATM, PALB2 mutations
- CDKN2A, STK11, TP53 mutations
- Melanoma (Skin Cancer)
- CDKN2A, BAP1 mutations
- Endometrial & Uterine Cancer
- Lynch Syndrome genes (MLH1, MSH2, MSH6, PMS2, EPCAM)
- Kidney Cancer
- VHL (Von Hippel-Lindau Syndrome)
- FH, MET mutations
- Thyroid Cancer
- RET mutations (Multiple Endocrine Neoplasia – MEN2)
- PTEN (Cowden Syndrome)
- Brain Tumors & Sarcomas
- TP53 (Li-Fraumeni Syndrome)
- NF1, NF2 (Neurofibromatosis)
🩸 Step 1: Sample Collection – A simple blood or saliva sample is collected at a certified laboratory.
🧬 Step 2: DNA Sequencing – Our Next-Generation Sequencing (NGS) technology analyzes cancer-related genes.
🖥 Step 3: Bioinformatics Analysis – AI-driven software identifies genetic mutations linked to hereditary cancers.
📑 Step 4: Expert Genetic Review – Board-certified geneticists validate and interpret the results.
👩⚕️ Step 5: Personalized Report & Consultation – A detailed clinical report is provided to your physician for further guidance.
💡 Early Cancer Detection – Helps identify high-risk individuals before symptoms develop.
🔬 Personalized Treatment Options – Guides targeted therapies and treatment plans.
👪 Family Risk Assessment – Assists in determining cancer risks for relatives.
🧑⚕️ Preventive Measures & Screening Recommendations – Enables early intervention strategies.
📊 Clinical Trial Access – Identifies eligibility for new treatments and studies.
- Pathogenic Variant Identified – A confirmed inherited mutation linked to increased cancer risk. Preventive care and risk reduction strategies are advised.
- Likely Pathogenic Variant – A probable mutation requiring clinical follow-up for risk assessment.
- Variant of Uncertain Significance (VUS) – The mutation’s impact is unclear; further family testing or research may be needed.
- No Pathogenic Variant Detected – This does not eliminate cancer risk but indicates no known inherited mutations.
- Risk Reduction Strategies: Lifestyle changes, risk-reducing surgeries, medications (e.g., Tamoxifen for BRCA mutation carriers).
- Increased Surveillance: Early and more frequent screenings such as mammograms, colonoscopies, PSA tests, or MRI scans.
- Genetic Counseling: Discussion of implications for you and your family members.
- Targeted Treatment: Some genetic findings may qualify patients for personalized treatments such as PARP inhibitors for BRCA-positive cancers.
CGx testing is often covered by insurance if a person meets medical necessity criteria. Our team can assist with pre-authorization, insurance claims, and financial assistance programs.
✔ Comprehensive Genetic Panels – Covers all major hereditary cancer genes
✔ CLIA-Certified & CAP-Accredited Laboratory – Ensures the highest testing accuracy
✔ Rapid Turnaround Time – Results available within 2-4 weeks
✔ Expert Genetic Counseling – Support to help you understand and act on results
✔ Advanced NGS Technology – High-depth sequencing for the most accurate results
Understanding Neurological Genetic Disorders
Neurological disorders can be caused by genetic mutations affecting the nervous system, leading to conditions such as epilepsy, movement disorders, neurodegenerative diseases, and neuropathies. Identifying the genetic basis of these conditions is crucial for early diagnosis, treatment planning, and family risk assessment.
What is Comprehensive Neurology Genetic Testing?
Comprehensive Neurology Genetic Testing uses Next-Generation Sequencing (NGS) and Whole Exome Sequencing (WES) to analyze multiple genes associated with neurological conditions in a single test. This advanced approach provides a precise diagnosis, guiding personalized treatment strategies.
Who Should Consider Neurology Genetic Testing?
Genetic testing may be beneficial for individuals with:
- Unexplained neurological symptoms such as seizures, tremors, or muscle weakness
- A family history of neurological disorders
- Early-onset neurodegenerative conditions
- Developmental delays or intellectual disabilities
- Progressive movement disorders
- Neuromuscular disorders such as muscular dystrophy or neuropathy
Conditions Covered by Neurology Genetic Testing
Our comprehensive panel screens for a wide range of neurological conditions, including but not limited to:
Epilepsy & Seizure Disorders
- Dravet Syndrome (SCN1A gene)
- Lennox-Gastaut Syndrome
- Childhood Absence Epilepsy
- Genetic Generalized Epilepsy
Neurodegenerative Diseases
- Alzheimer’s Disease (APOE, PSEN1, PSEN2)
- Parkinson’s Disease (LRRK2, SNCA)
- Amyotrophic Lateral Sclerosis (ALS) (SOD1, FUS, TARDBP)
- Huntington’s Disease (HTT gene mutation)
Neuromuscular & Peripheral Nerve Disorders
- Charcot-Marie-Tooth Disease (CMT1A, CMT2)
- Duchenne and Becker Muscular Dystrophy (DMD gene)
- Spinal Muscular Atrophy (SMA) (SMN1, SMN2)
- Myasthenia Gravis
Movement Disorders
- Dystonia (DYT1, THAP1)
- Essential Tremor
- Hereditary Spastic Paraplegia
Autism Spectrum & Neurodevelopmental Disorders
- Rett Syndrome (MECP2)
- Fragile X Syndrome (FMR1)
- Angelman Syndrome
- Intellectual Disabilities with known genetic mutations
Demyelinating & Neuroinflammatory Diseases
- Multiple Sclerosis (MS susceptibility genes)
- Leukodystrophies
- Autoimmune Encephalopathy
How is the Test Performed?
- Sample Collection – A simple blood or saliva sample is collected.
- Genetic Sequencing – Using state-of-the-art NGS technology, we analyze DNA for mutations in targeted neurological genes.
- Bioinformatics Analysis – Advanced AI-driven tools interpret results to detect pathogenic variants.
- Expert Interpretation – A board-certified geneticist reviews and validates the findings.
- Clinical Report & Consultation – A detailed report is provided to your physician for personalized treatment planning.
Benefits of Comprehensive Neurology Genetic Testing
✅ Early & Accurate Diagnosis – Detects genetic causes before symptoms progress.
✅ Targeted Treatment Options – Helps personalize medical interventions based on genetic findings.
✅ Family Risk Assessment – Identifies hereditary risks for family members.
✅ Better Disease Management – Helps predict disease progression and prognosis.
✅ Access to Clinical Trials – Provides eligibility for new treatments and research studies.
Interpreting the Test Results
- Pathogenic Variant Identified – A known disease-causing mutation is detected, guiding treatment decisions.
- Likely Pathogenic Variant – A probable mutation is found, requiring further clinical correlation.
- Variant of Uncertain Significance (VUS) – Further testing or family studies may be needed.
- No Pathogenic Variants Detected – Does not rule out the disease but reduces genetic risk probability.
What Happens After Testing?
After receiving your results, your healthcare provider may:
- Recommend lifestyle changes or medications tailored to your genetic profile.
- Refer you to genetic counseling for a better understanding of inherited risks.
- Suggest additional testing if further analysis is needed.
- Discuss preventive strategies or clinical trial opportunities.
Insurance & Cost Information
Many insurance providers cover genetic testing for neurological conditions based on medical necessity. Our team can assist with pre-authorization and billing inquiries to determine coverage options.
Benefits of Comprehensive Neurology Genetic Testing
✔ Comprehensive Gene Panels – Covers all major genes linked to neurological disorders.
✔ CLIA-Certified & CAP-Accredited Lab – Ensures the highest testing accuracy.
✔ Fast Turnaround Time – Results available within 2-4 weeks.
✔ Advanced NGS Technology – High-depth sequencing with expert validation.
✔ Genetic Counseling Support – Guidance to help you understand and act on your results.