SequenceMD has partnered with GeneDx to simplify the genetic testing journey, expand access to more patients, and enable earlier diagnosis.

Why Genetic Testing Matters

  • 80% of rare disorders have a genetic cause.
  • 60% of people diagnosed using genomic sequencing have a change in medical management.
  • Exome and genome sequencing reduces hospitalizations and emergency visits while shifting care towards more targeted, proactive management, regardless of test result.

The Industry Standard for First-Line Testing

For patients with developmental delay, intellectual disability, congenital anomalies or epilepsy, exome or genome sequencing should be the first test offered.

American College of Medical Genetics and Genomics (ACMG) recommends exome and genome as first-line tests for patients <1 year with one or more congenital anomalies or for patients with developmental delay/intellectual disability with onset before 18. (July 2021)

National Society of Genetic Counselors (NSGC) recommends exome and genome as first-line tests for all people with unexplained epilepsy, regardless of age or the presence of comorbidities. This recommendation is endorsed by the American Epilepsy Society (AES). (September 2022) 

American Academy of Pediatrics (AAP) recommends exome and genome as first-line tests for children with global developmental delay (GDD) and intellectual disability. (June 2025)

Partner with SequenceMD

GeneDx Partnership
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What to Expect with SequenceMD

Intake

A medical geneticist or their physician assistant conducts a patient evaluation, collects personal and family history, and advises on and coordinates a genetic testing strategy.

Counseling

A genetic counselor meets with the patient and family to discuss the potential impact of genetic testing, address questions or concerns, help navigate complex information, and connect patients to support resources.

Testing

If appropriate, SequenceMD submits an order for genetic testing. Samples from relatives may be requested to potentially improve diagnostic yield and reduce inconclusive findings. Results are typically received within 3 weeks.

Results and Follow-Up

SequenceMD meets with the patient to explain the results and collaborates with the referring provider on a care and management plan.

SequenceMD accepts most commercial payer insurance and Colorado Medicare/Medicaid.
GeneDx is an in-network provider for most commercial and Medicaid plans in the United States.
GeneDx also accept Medicare and Tricare plans and their Financial Assistance Program can also help reduce out-of-pocket costs.

Common Indications for
Genetic Referrals

  • Extensive nondiagnostic work-up
  • Symmetric or multisystem involvement
  • Remarkable clinical presentations and features
  • Disease severity disproportionate to risk factors
  • Nonresponse to standard therapies
  • Family history of genetic disorders
  • Intellectual or developmental disability
  • Congenital malformations and syndromic presentations

Compassionate, Comprehensive
Genetics Care for Children and Adults

400+ 5-star Google reviews

SequenceMD and all its staff are outstanding. I have been working with Hilary Weingarth, PA, on getting answers for my complex medical issues. She is very thorough, knowledgeable, and kind. The entire team, including their genetic counselors and support staff, is very educated and extremely helpful. I am very grateful to have such a great clinic as part of my patient care team.

MSMegan S.

Lucy was truly a joy to work with because she is both personable and professional in explaining everything in an understandable manner. Her genuine care about how I felt regarding all the information and process steps was evident, and she made me feel seen as a person and not just a test subject. I look forward to continuing to work with her and highly recommend her and all the kind people at SequenceMD to others.

SAStacie A.

Excellent doctor and excellent facility! Dr. Stopak spent an hour with me, and his knowledge and compassion are unbelievable.

DADenise A.

Great experience. Spent a long time with us for our initial visit, really listened, gave my daughter a voice, and allowed her to have her thoughts and opinions heard. We were so grateful to be able to have access to a pediatric geneticist without having an 18 month plus waitlist.

EMEmily M.

Rebeca was extremely knowledgeable, patient and informative. She provided very clear information and answered all my questions — most of them before I could even ask.

MSMary S.

Erin was great! She is extremely knowledgeable about all things related to genetic testing. I was very pleased with her thoroughness and understanding of the situation. Gave us great options moving forward! 5 stars for sure!!

ARAlan R.

Had a great experience, probably the best medical visit I’ve ever had! Super clean and cute office, clear instructions ahead of time made it easy to find, and the doctor made me feel super comfortable and didn’t judge me like past doctors have!

TDTiffany D.

About SequenceMD

SequenceMD specializes in the diagnosis and management of rare and inherited genetic conditions across the lifespan. Since opening our Denver clinic in 2022, SequenceMD has seen 7,500+ patients from 2,000+ referring primary care, pediatrics, and specialty providers. Via in-person and telemedicine services, our team provides patients and providers access to a patient-centered medical evaluation that includes genetic counseling, testing, and interpretation.