TEST CODE: 008851

DIAGNOSTIC TEST FOR: PEDIATRIC CONDITIONS

WHEN TO CONSIDER GENETIC TESTING FOR YOUR CHILD:

Testing may be beneficial for your child if they experience:

– seizures or epilepsy

– delayed development

– overgrowth

– early respiratory disorders

– structural heart defects

– multiple congenital anomalies

– childhood-onset cancer

TURNAROUND TIME: 10–21 calendar days (14 days on average)

PREFERRED SPECIMEN: 3mL whole blood in a purple-top tube

ALTERNATE SPECIMENS: DNA or saliva/assisted saliva

Genetic testing for pediatric conditions

“Answer critical questions about your child’s health”

Benefits of genetic testing for Pediatric conditions

For children born with a genetic health condition, an early diagnosis can make all the difference. Genetic testing is a critical step in ensuring your child receives the best treatment and care.

Genetic testing provides answers to help:

– Determine which medications may be most effective for your child and which should not be used

– Avoid more invasive tests and procedures by identifying the cause of your child’s condition, early

– Access new, innovative treatments and find opportunities to join clinical trials

– Learn if there are other family members, including siblings, who may be at risk

What are the benefits of testing?

Genetic testing gives you information that may help you and your healthcare provider:

– establish or confirm your specific diagnosis

– provide an explanation of the underlying cause of your heart condition

– make informed medical decisions and provide an opportunity to start risk reduction strategies

– understand whether you are at risk of developing an underlying condition that affects more than one organ or system in your body (multisystem conditions)

– identify other at-risk relatives for whom genetic testing is recommended

Testing for at-risk family members

Identifying at-risk family members is one of the most important benefits of genetic testing. If you have a genetic variant, your immediate family members have up to a 50% chance of having the same variant. Other relatives may also be at risk.

What are the potential results?

A POSITIVE TEST RESULT CAN:

If testing identifies a variant associated with heart disease, consult with your healthcare provider to create a management plan and to identify relatives who may need to be tested.

A NEGATIVE TEST RESULT:

If testing identifies no variants associated with a hereditary heart disease, the underlying cause of your heart condition remains unknown. As our knowledge of genetics improves, additional genetic testing may become available.

AN UNCERTAIN VARIANT TEST RESULT:

In some cases, testing can identify a variant, but it is not known at this time whether the variant is associated with heart disease. If new information about your family history of heart conditions becomes available, this could change what your test results mean for you and your relatives. Always let your healthcare provider know if there are any updates regarding your family medical history.

Take action based on your results 

With Genomed, you can make health decisions based on your results. Our medical-grade tests are the same tests used by doctors and genetic counselors. Based on your results, you can work with your healthcare provider to consider:

– increased or earlier screenings

– lifestyle modifications

– early intervention to prevent the onset of disease

When you need more

Exome Sequencing can provide answers for complicated or difficult-to-diagnose cases.

Exome testing looks at the pieces of your DNA that provide instructions for making proteins (“exons”). Exome testing may be right for you (or your child) if:

– your healthcare provider suspects a genetic condition

– there are multiple genes that could be the cause of your (or your child’s) symptoms

– you (or your child) have a complicated medical history that affects many organs and/or body systems

– past genetic test results for any non-exome tests were normal

This test is ordered through your (or your child’s) healthcare provider. Results are typically available in 6 to 8 weeks after you provide a blood or saliva sample.