Life Invitae Panels

What is the Life Invitae Clinical Panel?

The Life Invitae Clinical Panel is a targeted clinical genetic test for patients in whom a specific inherited or genetic condition is suspected.

Instead of analysing only common polymorphisms or limited genetic markers, this test focuses on clinically relevant genes connected with a defined medical system, such as neurology, cardiology, pediatric rare disease, oncology, genetic risk, or another clinically indicated area.

Testing is performed through Invitae / Labcorp Genetics, USA, using selected clinical gene panels from the Invitae test catalog. G-Life provides clinical review, panel selection, sample coordination, and post-result interpretation.

The test is performed from a simple cheek swab or other approved sample type, depending on the selected panel and laboratory requirements.

This test is recommended when the clinical picture suggests a genetic condition and when deeper analysis of selected disease-associated genes is needed.

What does the Life Invitae Clinical Panel test for?

The Life Invitae Clinical Panel investigates disease-associated genes according to the selected clinical indication.

The analysis may include:

• exonic variants in clinically relevant genes
• clinically important intronic or splice-region variants, when included in the selected Invitae panel
• deletion and duplication analysis / CNV detection within targeted genes, when included in the selected panel
• focused clinical interpretation according to the patient’s symptoms, family history, and previous medical findings

The goal is to identify pathogenic or likely pathogenic variants that may explain the patient’s condition, clarify medical risk, guide further diagnostic work, and support clinical management.

Main clinical areas

Invitae offers clinical genetic testing across several medical areas. At G-Life, we select the most appropriate panel according to the patient’s phenotype and clinical indication.

1. Neurology and neurodevelopment

The Life Invitae Clinical Panel may be considered in patients with:

• developmental delay
• autism spectrum disorder with additional clinical features
• intellectual disability
• speech delay or regression
• epilepsy or unexplained seizures
• hypotonia
• movement disorders
• neuromuscular weakness
• neuropathy
• suspected mitochondrial or metabolic-neurological condition

This is especially useful when previous testing did not provide a clear diagnosis or when the phenotype points toward a specific neurological or neurodevelopmental syndrome.

2. Pediatric and rare diseases

The test may be considered in children with:

• unexplained developmental problems
• multiple congenital anomalies
• dysmorphic features
• growth problems
• suspected genetic syndrome
• unexplained abnormal laboratory findings
• family history of rare disease or early childhood disease
• inconclusive previous genetic testing

In many pediatric cases, a focused clinical panel may help shorten the diagnostic odyssey and guide further treatment, follow-up, and family planning.

3. Cardiology

A cardiology panel may be considered when there is suspicion of inherited heart disease, such as:

• cardiomyopathy
• arrhythmia
• long QT syndrome
• Brugada syndrome
• catecholaminergic polymorphic ventricular tachycardia
• aortopathy
• connective tissue disorder with cardiovascular risk
• familial hypercholesterolemia
• sudden cardiac arrest or unexplained sudden death in the family

Cardiology testing may also be added as a second panel when a patient with a neurological or multisystem condition also has cardiac symptoms or family history.

4. Oncology and genetic risk

Selected Invitae panels may be considered when there is a personal or family history suggesting hereditary cancer risk or another inherited predisposition.

This may be useful in families with:

• early-onset cancer
• multiple relatives with the same or related cancers
• bilateral or multiple primary cancers
• known hereditary cancer syndrome in the family
• need for targeted family testing

Genetic risk testing should always be interpreted together with personal history, family history, and specialist medical recommendations.

5. Other system-based panels

Depending on the clinical indication, additional panels may be selected for other medical systems, including endocrine, renal, connective tissue, metabolic, immunological, hematological, or multisystem conditions.

At G-Life, the choice of panel is made after reviewing the patient’s symptoms, previous results, family history, and the main diagnostic question.

One clinical system = one panel

At G-Life, the Life Invitae Clinical Panel is organised according to the affected clinical system.

One clinical system is considered one panel.

For example:

• neurology is one panel
• cardiology is one panel
• oncology / genetic risk is one panel
• pediatric rare disease is one panel

If the main clinical problem is neurological, a neurology panel is selected. If a second system is also clinically suspected, such as cardiology, then a second panel may be added.

This approach keeps the analysis focused, clinically relevant, and easier to interpret.

Example:

A child with developmental delay, epilepsy, and hypotonia may need a neurology or pediatric rare disease panel.

If the same child also has cardiomyopathy, arrhythmia, syncope, QT changes, or a family history of sudden cardiac death, a cardiology panel may be clinically justified as a second panel.

When to consider the Life Invitae Clinical Panel?

The Life Invitae Clinical Panel is particularly useful when a patient has:

• strong suspicion of a genetic condition
• symptoms affecting one main clinical system
• unexplained developmental delay or neurological symptoms
• epilepsy or seizure disorder with suspected genetic origin
• cardiomyopathy, arrhythmia, or inherited cardiovascular risk
• suspected rare disease or genetic syndrome
• positive family history of inherited disease
• previous inconclusive genetic testing
• a variant of uncertain significance that needs better clinical correlation
• need for parental segregation after a clinically important finding

It can also be considered when:

• previous SNP testing or microarray did not explain the condition
• WES did not provide a clear answer but a specific system remains strongly suspected
• CNV detection within selected disease genes is important
• intronic or splice-region variants are relevant for the suspected condition
• doctors and family want a focused diagnostic approach instead of many separate tests

The Life Invitae Clinical Panel does not replace clinical assessment. It is most powerful when interpreted together with the patient’s medical history, examination, family history, and other laboratory or imaging results.

Why this test may be useful after previous genetic testing

In some patients, previous genetic testing may not be sufficient to explain the clinical picture.

A targeted clinical panel may still be useful when:

• previous testing did not include reliable CNV detection
• the suspected gene requires better coverage
• clinically relevant intronic or splice-region variants need to be considered
• the patient’s phenotype points strongly toward a specific system
• previous WES or broad testing produced uncertain results
• a more focused interpretation is needed
• updated gene content is available for the suspected disease group

This is especially important in neurology, epilepsy, cardiology, mitochondrial medicine, connective tissue disorders, pediatric rare disease, and hereditary cancer risk.

What do you receive?

With the Life Invitae Clinical Panel you receive:

• a clinical genetic result from Invitae / Labcorp Genetics
• information about whether a pathogenic or likely pathogenic variant was found
• the gene and variant involved, when relevant
• inheritance pattern, when known
• clinical interpretation of the result by G-Life
• explanation of how the result fits the patient’s symptoms
• recommendation whether parental segregation is needed
• recommendation whether additional system panels or family testing should be considered
• post-result consultation with a G-Life geneticist

The consultation helps the patient or family understand:

• what the result means
• whether the result explains the clinical condition
• whether further medical follow-up is needed
• whether other family members should be tested
• whether the finding has reproductive or family-planning implications
• how the result should be integrated with other G-Life functional and clinical tests

Technology & Laboratory Workflow

• Sample type: cheek swab or other approved sample type, depending on the selected panel
• Laboratory: Invitae / Labcorp Genetics, USA
• Test type: targeted clinical genetic panel
• Scope: selected genes associated with the clinical indication
• Variant types: sequence variants and deletion / duplication variants, according to the selected panel
• Interpretation: clinical variant classification according to laboratory standards and G-Life clinical correlation
• Result use: diagnosis, prognosis, medical management, family testing, and reproductive planning