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Patients and families Checklist for the consultation

Checklist for talking about childhood genetics

Organize signs, diagnoses and situations that are part of the child or adolescent's history. Finally, see how to take these matters to the healthcare team.

Child sitting between two adults at home
The child comes first

The conversation begins with the child's history, development, health and family life.

Before you start

This tool organizes information. She doesn't diagnose.

The summary does not calculate risk, does not confirm a genetic cause, does not indicate which test to take and does not replace a consultation. In an acute or emergency situation, seek health care without waiting for this page.

Purpose
Prepare a clinical conversation
Identification
The form does not request identifiable data
Summary
No score or test recommendation
Decision
Always carried out by a qualified professional

Checklist for the consultation

What is part of the child's story?

Select one or more options. If none apply or you don't know, choose the last alternative.

Signs and situations observed in children or adolescents
01

For example, persistent differences in motor, speech, communication or learning development.

02

A skill that the child used to perform is no longer performed or has changed in an important way.

03

Events evaluated or still under investigation. If there is an ongoing crisis, go to emergency guidelines of this page.

04

Congenital findings or a combination of physical and clinical characteristics monitored by professionals.

05

For example, development associated with changes in vision, hearing, growth, heart, muscles or movement.

06

Epilepsy, global developmental delay, intellectual disability, autism or cerebral palsy are already part of the clinical history.

07

The child has already undergone different assessments, but there are still important questions unanswered.

08

There are similar manifestations or diagnoses among biological family members, even if there is no confirmed explanation.

09

You can still use the materials on the page to understand the process and talk about persistent doubts.

To take to the consultation

  1. 01

    Record the context

    Write down when the signs started, how they evolved and what evaluations or therapies have already been carried out.

  2. 02

    Bring available documents

    Reports, previous tests and family information can help the professional understand the history.

  3. 03

    Discuss possibilities and limits

    Only a clinical assessment can define whether any test can help and which approach would make sense.

  4. 04

    Do not change care for this result

    The guidance on this page does not confirm a diagnosis nor should it encourage changes in treatment or follow-up.

Immediate service

What to do during a seizure.

These guidelines are for first aid. Genetic investigation takes place after stabilization and clinical evaluation.

  1. Time

    Time and protect

    Move objects away, protect your head with something soft, loosen tight clothing around your neck and stay at your side. Gently turn the person onto their side when it is safe.

  2. Never

    Do not contain or put anything in your mouth

    Don't hold back the movements. Do not offer objects, food, liquids or medicine yourself. If rescue medication is prescribed, follow the plan you receive exactly.

  3. 192

    Call SAMU

    Call 192 if it is your first crisis, lasts more than five minutes, another crisis starts without complete recovery, there is difficulty breathing, injury or immediate risk.

  4. After

    Follow until recovery

    Observe breathing and remain close until the person regains consciousness. Follow SAMU's guidelines and seek the indicated assessment.

Frequently asked questions

About this checklist.

Does the summary say if my child needs genetic testing?

No. It just organizes topics for a conversation. The relevance of any test depends on clinical assessment, history and other data.

Are my responses stored?

This tool does not request identification, does not submit the marked options and does not persist them after the page is closed. Visiting the page may also generate IP, cookies and technical navigation records according to the privacy policy.

I didn't mark any specific situation. Does this rule out a genetic condition?

No. A brief tool does not assess the entire health history. If there is a concern, describe it to the professional caring for the child.

Can I use this checklist in an emergency?

No. He doesn't do screening. In case of a convulsive crisis, follow the emergency section on this page; In the face of another acute change or immediate risk, seek health care.

Administrative information

After clinical orientation, understand the laboratory flow.

NeoGenomica can explain the available tests, documents and sample collection without replacing the evaluation of the treating healthcare professional.

Speak to NeoGenomica

For patients and families

Information for each stage of the journey.

Start with the topic that comes closest to your question.

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