FirstStepDx PLUS®

FirstStepDx PLUS is a chromosomal microarray (CMA) test that can identify the underlying genetic causes of conditions including developmental delay, autism spectrum disorder, and intellectual disability. CMA technology is a guideline recommendation from many medical organizations.

Lineagen is the only diagnostic company devoted solely to developmental delay and to a full-service approach to genetic testing that makes it easy and accessible to everyone.

Learn More

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

Read More: What is FirstStepDx PLUS

When a healthcare provider chooses to use Lineagen's FirstStepDx PLUS CMA service, they are getting much more than just a genetic test. They're getting the peace of mind that a whole team is working behind the scenes to help their patient, from insurance reimbursement, to genetic counseling and the final complete genetic report.

This enables the provider to focus on their patient, rather than worrying about all of the roadblocks that often come with ordering a genetic test:

  • Complex genetic information to explain to the family
  • Difficulty in collecting the sample
  • Lengthy and often frustrating insurance process
  • Results that can be confusing and scientifically complex

Lineagen has taken those barriers away with an easy-to-use CMA testing technology that can detect hundreds of genetic conditions and is nationally recognized as the standard for diagnosing global developmental delay. The FirstStepDx PLUS CMA testing service provides:

  • A detection rate for the underlying genetic causes of autism that is up to twice as high as other CMA tests offer.
  • A team of insurance reimbursement specialists that performs all of the insurance authorizations and appeals for the provider and patient.
  • A cheek swab DNA collection method rather than a blood draw to make the process painless for children.
  • A team of certified and licensed genetic counselors who can advise healthcare providers and help explain the service to the family before and after the test.
  • A family-friendly, easy-to-understand results report that's written and reviewed by a five-person team of clinical professionals.

In the past, healthcare providers would often advise parents to "wait and see" because they simply didn't have many tools to diagnose the underlying genetic cause for a child's developmental delay. Today, with the FirstStepDx PLUS CMA testing service, providers can quickly pinpoint the cause of delay and develop a personalized healthcare management program for their patient.

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

Read More: Lineagen makes it easy for doctors to use genetic tests

Many providers run into barriers when ordering genetic testing including difficult sample collection, lengthy insurance processes and results that are confusing.

Lineagen has put all of this into an easy to order and easy to understand chromosomal microarray (CMA) package. We use a cheek swab buccal DNA collection method rather than a blood draw. We have a team of licensed and certified genetic counselors who can help explain the service to the family and provide pre-test and post-test telephone genetic counseling. And we package the results into an easy to understand, comprehensive report that’s written by a team of clinical professionals.

Lineagen handles the entire insurance process

We use a cheek swab buccal DNA collection method rather than a blood draw. We perform all of the insurance authorizations and appeals in house so the provider doesn’t have to.. And we package the results into an easy to understand, comprehensive report that’s written by a team of professionals.

We’re taking those barriers away. We’re making it easy for doctors to order CMA, which is highly recommended for these children with developmental delay.

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

Read More: CMA is a first tier, guidelined test for developmental delay

Lineagen has chosen to focus its FirstStepDx PLUS testing option around chromosomal microarray technology (CMA) technology. The reason we've chosen this particular genetic test among the hundreds of available genetic tests is because this service is now a guideline recommendation by several medical organizations.

For example, in 2010, the American College of Medical Genetics recommended CMA instead of karyotype for children with certain developmental disabilities1. This includes children with developmental delay of unknown cause, children with intellectual disabilities and children with multiple congenital anomalies, and physical features that aren't readily recognized as being a specific genetic syndrome.

It's hard to accurately diagnose the cause of developmental disability

There are hundreds or even thousands of genetic syndromes, many of which have overlapping features which make it 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 form of developmental delay their patient has. 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 disability2.

1. Miller D, Ledbetter D, (2010) Consensus Statement Chromosomal Microarray is a First Tier Clinical Diagnostic Test for Individuals With Developmental Disabilities or Congenital Anomolies. The American Journal of Human Genetics, 86, 749-764

2. Moeschler JB, Shevell M; Committee on Genetics. Comprehensive evaluation of the child with intellectual disability or global developmental delays. Pediatrics. 2014 Sep;134(3):e903-18

icon-quote
There are hundreds or even thousands of genetic syndromes, many of which have overlapping features, which make it very difficult without the use of genetic testing technology to pinpoint exactly which syndrome a patient may have.
Rena Vanzo
MS, LCGC Licensed & Certified Genetic Counselor,
Vice President, Clinical Services, Lineagen, Inc.