About LGS Treatments Kit

What genetic testing may offer

The Child Neurology Foundation explains that testing may help identify a genetic cause or risk factor for a neurologic condition, shorten the search for a diagnosis, and provide information that can affect clinical care. A diagnosis may also help families find condition-specific communities and research opportunities.

Benefits and limitations

Testing does not always produce a diagnosis. Even when a genetic cause is found, a treatment may not yet be available. The guide also recognizes emotional, social, and financial consequences of testing.

Types of tests

• Chromosomal microarray: looks for missing or extra pieces of DNA.
• Gene panels: examine a selected group of genes associated with a condition, such as epilepsy.
• Whole exome sequencing: examines the protein-coding regions of genes.
• Whole genome sequencing: examines DNA more broadly than exome testing.

The guide notes that samples may include saliva, a cheek swab, or blood, depending on the test.

Costs and genetic counseling

Costs, insurance coverage, and assistance programs vary. The guide recommends consultation with a medical specialist about the appropriate test. Genetic counseling can explain benefits and limitations, help interpret results, and connect families with resources.

What is genetic testing?

The LGS Foundation describes genetic testing as a medical test that looks for changes, also called variants or mutations, in DNA. Testing may use blood or saliva, and results can take weeks to months.

Why it matters in LGS

According to the Foundation, testing can help explore the cause of the seizures that evolved into LGS. It may help personalize care, identify related conditions, and connect families with diagnosis-specific support. Adults with LGS can also discuss testing with their healthcare provider.

A genetic test does not replace a clinical evaluation. Some genetic changes are shared with relatives; others are unique to the individual.

Where to begin

The Foundation identifies a neurologist, pediatrician, or other healthcare professional as a starting point for discussing a test and insurance coverage. A genetic counselor can explain results, including variants whose significance is not yet known.

Test options described by the Foundation

Single-gene tests, gene panels, whole exome and whole genome sequencing, karyotyping, and chromosomal microarray examine different kinds of genetic changes. Your healthcare provider can explain the options in the context of your family member’s medical history.

Programs and assistance

The Foundation’s original page lists testing resources and assistance programs. Eligibility, coverage, and availability may change; use the original source to check current details.

What does a genetic test examine?

MedlinePlus Genetics explains that genetic testing looks for changes in genes, chromosomes, or proteins. Results may help confirm or rule out a suspected genetic condition, or help assess the chance of developing or passing on a genetic disorder.

• Gene tests look at DNA sequences, from a small change to many genes or the whole genome.
• Chromosome tests look for larger changes, such as an extra chromosome.
• Biochemical tests examine proteins or enzymes whose activity may indicate an underlying DNA change.

Testing is a personal decision

MedlinePlus describes testing as voluntary. Benefits, limitations, risks, and the emotional and social implications are part of the decision. A geneticist or genetic counselor can help families understand these issues.

Making sense of results

• Positive: a change of interest was found. Its meaning depends on the test and the medical context; it does not necessarily predict the course or severity of a condition.
• Negative: the test did not find a relevant known change. This does not always rule out a genetic cause, because tests cannot detect every possible change.
• Uncertain or inconclusive: a change may be found whose relationship to disease is not yet understood. This cannot by itself confirm or rule out a diagnosis.

A healthcare provider interprets results alongside medical history, family history, and the type of test performed.

About this resource

“Your health starts in your genes” is an Invitae patient-information resource. Invitae is a commercial genetic testing provider, now part of Labcorp.

What the page covers

Invitae describes genetic testing as a way to explore potential health risks, help confirm a diagnosis, inform treatment discussions, and provide information relevant to family members.

Medical-grade testing and counseling

The page distinguishes its clinician-ordered medical testing from consumer DNA tests intended for general interest. It describes genetic counselors as professionals who explain genetic concepts, review family history, and help people understand test results.

Results, privacy, and access

The resource includes information about accessing test results through the provider’s portal, managing genetic-data preferences, and contacting customer service or genetic counselors. Availability, costs, and insurance coverage depend on the service and individual situation.

Testing, appointments, accounts, and results are handled by the provider, not by this app. Use the original source for current service details and privacy policies.

What does “genetic” mean?

The International League Against Epilepsy (ILAE) explains that a genetic epilepsy results directly from a known or presumed genetic change in which seizures are a core feature. Genetic changes can occur at the chromosome or molecular level.

Genetic does not necessarily mean inherited. A change may arise for the first time in an individual, called a de novo change. Environmental factors may also contribute.

Inherited changes

Some conditions follow an autosomal dominant pattern, in which one altered copy of a gene is sufficient, or an autosomal recessive pattern, in which both copies are affected. The inheritance pattern depends on the specific condition.

New changes and mosaicism

A genetic change may arise during cell division rather than being inherited. Mosaicism means a change is present in some cells, but not all. The affected tissues and proportion of cells influence its effects. Whether a change can be passed to a child depends on whether egg or sperm cells are involved.

Multiple genes and other factors

Some epilepsies involve the combined effects of multiple genetic variations. Environmental factors may also be involved. These patterns can be harder to investigate or predict than a condition associated with a single gene.

Pattern of inheritance

ILAE’s LGS genetics page states that most cases without a structural brain abnormality have an unknown cause. Where a genetic cause is identified, it is usually de novo, meaning the change arose newly rather than being inherited.

Genes and chromosomes

The page describes associations with genes involved in structural and metabolic causes, changes in the number of copies of DNA segments, and new disease-causing variants in a number of genes. Chromosomal abnormalities have also been associated with LGS.

Family history

ILAE states that a family history of seizures or epilepsy is not expected. This is a general description, not an individual family’s genetic risk assessment.

The original page is a brief clinical reference. A healthcare provider or genetic counselor can explain what a specific finding means for your family.

The LGS Foundation’s directory brings together third-party resources for families.

Genetic testing and care planning

• Genetic testing: the Child Neurology Foundation guide covers benefits, types of tests, costs, and counseling. Read the “Considering Genetic Testing?” card above in this app.
• New neurologist visits: the Child Neurology Foundation offers a New Visit Toolkit. Find the English and Spanish toolkits in the app.
• Respite and transitions: the directory lists a Respite Care Notebook and Transition of Care resources.

Caregiver and family support

The directory lists CareGiving.com, Courageous Parents Network, RareCaregivers.org, Angel Aid, the Circle of Care guidebook, Family Voices, Parent to Parent USA, and the Caregiver Action Network.

Explore LGS support options inside the app.

Seizure information and safety

The Foundation lists CURE Epilepsy for epilepsy basics; Epilepsy Action and equipment providers for safety aids; Canine Assistants, 4 Paws for Ability, Paws With a Cause, and Little Angels for service-dog information; and Danny Did Foundation and Chelsea Hutchison Foundation for seizure-related support and grants.

Seizure Tracker and Epilepsy Society are listed for seizure diaries. SUDEP Aware and Danny Did Foundation are listed for SUDEP information. Read seizure safety information in the app.

Disability, education, and advocacy

Listed organizations include The Arc, National Disability Rights Network, Disability Rights Education & Defense Fund, Special Needs Alliance, United Cerebral Palsy, TASH, the Center for Parent Information and Resources, Job Accommodation Network, and Patient Advocate Foundation.

The directory also links to special education advocacy tips, a Special Education Rights and Responsibilities manual, and IEP information.

Feeding, diet, and emotional support

The directory includes feeding-tube information from Feeding Matters and Banner Health; dietary-therapy resources from the Charlie Foundation and Matthew’s Friends; and trauma and regulation resources from the National Child Traumatic Stress Network and Zones of Regulation.

Accessible activities

Examples include accessible playgrounds, Best Day Foundation, Challenger Baseball, Access Sports America, Special Olympics, Night to Shine, the National Park Service Access Pass, Camp Migdal, and Camp Boggy Creek.

Travel and financial resources

The Foundation lists Angel Flights East, Angel Flight NE, Miracle Flights, Air Care Alliance, and the Pediatric Epilepsy Surgery Alliance travel scholarship for travel related to care. Its directory also links to financial and disaster-relief resource pages.

Rare disease and research organizations

The Rare Epilepsy Network, National Organization for Rare Disorders, Child Neurology Foundation, American Epilepsy Society, Epilepsy Foundation, and NINDS are among the organizations listed.

Use the original directory below for the full list, current destinations, eligibility details, and availability. This in-app overview groups the directory’s resources; it does not enroll families in external services.