FirstStepDx PLUS®

The underlying genetic cause for your child’s clinical features can be due to many different types of genetic variations. Lineagen’s FirstStepDx PLUS® test looks for deletions (missing genetic material) and duplications (extra genetic material) on the chromosomes.

If you think of your genome as a book, FirstStepDx PLUS checks the book to make sure there aren’t any missing or duplicated chapters. By contrast, our other test, NextStepDx PLUS, looks for misspellings within a single word. The tests look at the genome in a different way and neither can do the other’s job.

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Rena Vanzo MS, LCGC Licensed & Certified Genetic Counselor,
Vice President, Clinical Services, Lineagen, Inc.

Read More: What is FirstStepDx PLUS?

If you are seeing signs that indicate that your child has developmental delay or autism spectrum disorder (ASD) Lineagen’s FirstStepDx PLUS® genetic testing service may be able to help.

FirstStepDx PLUS® includes a genetic test that may pinpoint the genetic cause of your child’s delays, help identify the most effective treatment and can also give you and your family a more clear understanding about what to expect regarding your child’s development.

In the past there was little that doctors and healthcare providers could do to help children with developmental delays and autism spectrum disorder. That’s changed. We now have clinical interventions and diagnostic tools, including genetic testing, that can help identify more precise treatments and lead to personalized healthcare management.

Families unfortunately may face challenges trying to get that type of testing for their child. Lineagen’s FirstStepDx PLUS® testing service helps parents and families overcome these roadblocks. For instance, we’ve made the collection of children’s DNA, their genetic material, much easier. Usually genetic testing is done on a blood sample from a child. Blood draws can be very traumatic, especially for children. We’ve developed a cheek swab DNA collection method that is quick and painless for children.

Another challenge that families often face when trying to get genetic testing is the insurance process. This can be very complicated. Lineagen’s team of insurance specialists walks families through the process completing all of the paperwork for them, from the pre-request forms to the appeals process as needed. Many families wonder whether genetic testing will cost them any money. We tell families the cost of the testing before the test occurs, so families never receive a surprise bill from Lineagen.

While there are many laboratories that provide genetic testing Lineagen is the only laboratory that provides this additional level of service for families.

Rena Vanzo MS, LCGC Licensed & Certified Genetic Counselor,
Vice President, Clinical Services, Lineagen, Inc.

Read More: FirstStepDx PLUS cheek swab is fast and painless

Most chromosomal microarray services require a blood draw in order to do the testing. Lineagen® has taken a different approach, and we use a cheek swab (buccal sample) for our CMA testing.

Easier to use

The first reason why we feel the buccal swab is a much better service is because it’s easier to use.

No one likes to have their blood drawn and that may be especially true for children with developmental disabilities and hypersensitivities, or for example, a child who may distrust doctors. It’s just harder to get a child to sit down and get a needle into their vein, which can be very frightening.

The cheek swab is very similar to the way a child might have his or her teeth brushed, and the parents can administer it. For these reasons, a child may be much more comfortable having mom or dad collect the sample. Additionally, the buccal swab collection is much quicker than a blood draw.

Sample is more stable

The second reason a cheek swab is preferred to a blood draw is because the stability of the sample is actually much better.

When blood is drawn, clinicians and families often need to consider the temperature outside, worry about the shipping conditions, and wonder how long it is going to take the sample to get to the laboratory for testing. This is because blood samples need to be acted on within a couple of days for laboratories to be able to do the appropriate test. The buccal swab, on the other hand, lasts for two months before it needs to be acted upon for testing.

The cheek swab detects conditions blood does not

The third reason why collecting DNA from a cheek swab is preferred to collecting DNA through a blood draw for CMA is because there are instances where the diagnosis may be found through the cheek swab and not through the blood sample.

There is a case that Lineagen® has performed for a child in which we’ve collected both his cheek swab and his blood sample. The diagnosis was missed from the blood sample.

The ultimate diagnosis for the child was mosaicism for trisomy 21. To understand the condition, think about a combination of black and white tiles in a mosaic. Mosaicism means there’s a mixture of two or more different types. So this child had some of his cells with an extra copy of chromosome 21, which is the medical diagnosis for Down syndrome.The other part of his cells were normal. And Lineagen has several different cases that indicate mosaicism is better diagnosed through DNA collected by cheek swab than by blood draw.

Rena Vanzo MS, LCGC Licensed & Certified Genetic Counselor,
Vice President, Clinical Services, Lineagen, Inc.

Read More: Lineagen offers access to genetic counselors as needed

Genetic counselors are specially trained healthcare providers. They have a master's level degree in medical genetics or human genetics, and their training allows them to understand the genetics of human disease and the risk for how human disease runs through families.

It also enables them to become experts in exploring and talking about this risk and these emotions with families.

Genetic counselors are not often included in the chromosomal microarray process at different laboratories. They might help fill out forms if someone calls in, but at Lineagen we make genetic counselors a central piece of our CMA services.

Genetic counselors review the patient's medical records

  • What is the detection rate?
  • I'm worried about this particular condition, will your test assess that?
  • When will I get the results?
  • How will I get them?

Genetic counselors are ready to answer parents questions

For example: What does this result mean for the school program my child is about to enter? What should I ask when I go to the new specialist provider next week?

Lineagen's genetic counselors are here to help provide ideas for families and give them information about how this genetic test result could impact their child's care.

Reports are thorough Rena Vanzo MS, LCGC Licensed & Certified Genetic Counselor,
Vice President, Clinical Services, Lineagen, Inc.

Read More: FirstStepDx PLUS reports are thorough, but easy to read and family-friendly

When Lineagen® reports a CMA, we take a different approach on how that report is written, how it's communicated, and how it's perceived by doctors and parents.

People who are familiar with genetic testing are used to getting results back from laboratories that are incredibly short, contain lots of medical jargon, and are often a messy black and white fax. It's a very impersonal report that says the very basics.

Lineagen's reports are designed to educate parents and doctors about the results

At Lineagen, we're thinking about the ultimate recipients of our report: the doctor, the family, maybe someday that child when he or she grows up. So we want it to be more than a one-page lab report with a bunch of medical jargon. We want to educate that family, that child, that doctor about this condition, so our reports include the following:

  • What did we find on this CMA?
  • What is different about this child's genetic code and what does that mean now?
  • What does that mean for this person's healthcare?
  • What can we learn about the prognosis of his or her condition?
  • What can this mean for the individual's future?
  • What is the recurrence risk for the condition?

Lineagen's reports are more detailed

We want all of the above-mentioned information to be in the report for the family. And for this reason, our reports are a little larger from Lineagen®, they're generally about 7 or 8 pages as compared to just 1-2 from an alternate laboratory.

And we have genetic counselors that are available to talk with families about their results. For example, we can be on the phone with a family and read pages 4, 5, and 6 together if that is helpful. Of course, genetic information can be difficult to learn, and perhaps a family isn't ready to read the whole report at once (they may want to take it in smaller pieces, learn what's relevant now, etc). Our genetic counselors will review with the family the things that are most important to them at that particular time.

Thorough data analysis Rena Vanzo MS, LCGC Licensed & Certified Genetic Counselor,
Vice President, Clinical Services, Lineagen, Inc.

Read More: A five-person team analyzes every FirstStepDx PLUS test

There are many different laboratories where a family could choose to have a CMA genetic test done for their child. And just like there are differences in the actual platform and the technology of the CMA, there might be differences in the way that CMA is analyzed for each child and the way it's reported.

Usually a single scientist analyzes test results

It's common practice at other laboratories for a single lab scientist to review the results for each child and write a report.

At Lineagen® we use a team approach for the test analysis. We like for genetic counselors, laboratory PhD scientists, as well as a medical geneticist to be involved in the analysis, interpretation, and reporting for each child. We believe this has a major advantage because we're able to use many different perspectives while considering this child's healthcare.

One example of that is the fact that our genetic counselors will review each child's medical records and learn the course of this his or her medical challenges before the test is analyzed and the report is written. We want to know the following:

  • When did the child's developmental concerns arise?
  • What is the family really worried about?
  • What can we learn about this child, more than just his or her age, gender, and diagnosis,that will be helpful to include in the analysis and report?
  • How long has the family has been concerned about the diagnosis?
Take a tour of the report Rena Vanzo MS, LCGC Licensed & Certified Genetic Counselor,
Vice President, Clinical Services, Lineagen, Inc.

Read More: A tour of a FirstStepDx PLUS results report

Lineagen's CMA reports are much more comprehensive than the average report from other laboratories and they contain two major sections: a provider results section and a family results section.

One report for the doctor, one for the parent

The report send by Lineagen's genetic counseling team so that the doctor has access to both sections and can easily share it with the family. So, everyone can get the “dual report” and can start reading the part that makes the most sense to them.

Genetic counselors consolidate the information and write the report

If you were to see one of Lineagen's reports, you would see the provider results section on the top, and that's going to contain 2-3 pages of the basic information that providers are accustomed to seeing when they get a lab result. It will have the demographic information from the patient who was tested, the ordering provider's contact information, and a Lineagen case contact (genetic counselors who can be reached if there are questions).

There's also going to be a table that shows the specific genetic change, if one was identified along with a genetic counselor interpretation that walks the reader through the details of the finding.

The entire report is referenced to the literature with links

There is a reference section in Lineagen's report because we want everyone who reads it to know where Lineagen's genetic counseling team got the information.

We give ordering providers and families the primary literature references so they can go and look up those studies themselves, if they wish to do so. We provide links to different medical references where healthcare providers and families can go and learn more about genetics in general.

Of course, we also add a methodology page that provides more details about how the test was done and includes our lab certifications.

The family section has links to support groups

The family result section contains pictures and definitions about the scientific information so the family doesn't need to have a genetics background to read through the report and understand what their child's finding means.

It will also provide detail about what it means for the child today (for his or her medical evaluations and screens) and what it could mean as this child ages, grows up, and maybe considers having a family of his or her own.

The family results section will also include links to support groups, or advocacy groups. One of the things that families may find to be very important after a genetic result is that they are part of a community

They've been on this journey where their child has some form of developmental delay and when they finally get that answer and they understand what caused their child's developmental delay, they might get a name, they now know what their child has.

Maybe it's Wolf-Hirschhorn syndrome or Angelman syndrome. And while it can be difficult to receive a diagnosis, it can also be very empowering because that set of parents can now connect with other parents of kids with Wolf-Hirschhorn syndrome or Angelman syndrome. Many of these support groups have annual meetings and get-togethers where the parents can talk to one another.

Ongoing review Rena Vanzo MS, LCGC Licensed & Certified Genetic Counselor,
Vice President, Clinical Services, Lineagen, Inc.

Read More: FirstStepDxPLUS offers ongoing review of test results

As part of Lineagen's CMA service, we offer an ongoing review of the certain results. When a child has a CMA, there's a possibility the result will include a chromosome change that has unknown clinical significance.

If the result is a “variant of unknown clinical significance, it means we've identified something that isn't typical. We know it's not a part of normal human variation, but at the same time there isn't enough information to tell us that it is truly related to the child's developmental delay. So it's concerning, and it's possible that this result could be related to the child's developmental delay.

Doctors can forget about an atypical result

When many providers order a CMA, they might get that result, file it away and forget about that result until the child comes back to see the doctor, if that ever happens, many months or years down the road.

We inform the doctor of any research that changes the test result

With Lineagen®, we provide a very unique element as part of our CMA service: we are continually reviewing the medical literature and comparing new literature to the results we've already sent to providers.

For example, let's say we tell a provider that their patient has a result of unknown significance, and six months later there's a new paper that informs us the specific result has a greater meaning and really is connected to the child's developmental delay.

We're going to take the initiative to write the ordering provider a letter so that he/she knows exactly what the change has been. We also provide the reference to the paper that gave us this new understanding.

So now, instead of this family not learning any updates and maybe not hearing anything until their next visit, we're being proactive and we're telling the providers in advance. There may be new information that can be incorporated into the child's healthcare and shouldn't have to wait until the next scheduled visit.

What can I learn? Rena Vanzo MS, LCGC Licensed & Certified Genetic Counselor,
Vice President, Clinical Services, Lineagen, Inc.

Read More: What can I learn from a FirstStepDx PLUS test?

So whenever a child is having a CMA parents often ask our genetic counselors about the chance for the CMA to find something. In other words, they are asking the following: “How likely am I to understand more about my child's developmental delay after this test?”

And really, we're always going to learn something more after the child's test. We're going to be able to rule out lots of possible causes of developmental delay.

But there are 30% of children who have our test, so about 3 out of 10, will get a specific result with some sort of a genetic change that's been identified. This means that the majority of families, 70% or 7 out of 10, won't have a specific answer after a CMA, but enable us to rule-out hundreds of known genetic variants that could have been impcting your child's condition.

However, those families will have many hundreds of genetic conditions that are ruled out based on the normal CMA result. So when our genetic counselors speak with a family, we say that the detection rate for Lineagen's CMA test is 30%. So your child has a 30% chance of us identifying something after the analysis. Importantly, there may be a lot of available information about the finding, or there may be relatively little information currently available about the finding.

Is CMA the best test? Rena Vanzo MS, LCGC Licensed & Certified Genetic Counselor,
Vice President, Clinical Services, Lineagen, Inc.

Read More: Is FirstStepDx PLUS the best CMA test for developmental delay?

There are many different forms of chromosomal microarrays. You might wish to think about CMAs like cell phones: even if everyone in the same room has a cell phone, they are likely to have different kinds of cell phones.

So there are multiple microarray types, or platforms, that are available. And these platforms are judged by various different characteristics — in other words, 'what makes a CMA a good CMA?'

One of the things that Lineagen® does so well is focus on developmental disabilities. We designed our CMA platform for children who have some form of developmental disability. It's very specific for this purpose and it was made with these individuals and this situation in mind.

There are many possible causes for a child's developmental delay and we want to give the family and the doctor the best chance at identifying what that cause is. So, we added features to our CMA that aren't standardly available, that have a better chance of diagnosing a particular genetic cause for the developmental delay.

What’s the best CMA test? Rena Vanzo MS, LCGC Licensed & Certified Genetic Counselor,
Vice President, Clinical Services, Lineagen, Inc.

Read More: Is chromosomal microarray (CMA) the right kind of test for developmental delay?

Lineagen's FirstStepDx PLUS testing option is currently focused on chromosomal microarray technology, or CMA technology.

The reason we've chosen this particular genetic test among the hundreds of available genetic tests is because CMA is now a guideline recommendation by several medical organizations.

The CMA test is recommended by the American College of Genetics

For example, in 2010 the American College of Medical Genetics recommended CMA instead of karyotype as a first-line genetic test for children with certain developmental disabilities.

This includes children with developmental delay of unknown cause, children with intellectual disabilities, and children with multiple congenital anomalies (birth defects or physical features) that aren't readily recognized as being a specific genetic syndrome.

Genetic testing is critical to making an accurate diagnosis

There are hundreds or even thousands of genetic syndromes, many of which have overlapping features. It can be very difficult without the use of genetic testing technology to pinpoint exactly which syndrome a patient may have.

CMA is a tool that will help providers discern which genetic condition their patient may have. In addition to this ACMG guideline recommendation, the American Academy of Pediatrics began recommending CMA as a first-line genetic test in August of 2014 for patients with developmental delay and intellectual disability.

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A genetic test can pinpoint the genetic cause of your child’s delays, help identify the most effective treatment and give you and your family a more clear understanding about what to expect regarding your child’s development.
Rena Vanzo
MS, LCGC Licensed & Certified Genetic Counselor,
Vice President, Clinical Services, Lineagen, Inc.