Does insurance cover genetic testing in 2025? Complete coverage guide  

Together with our colleagues in the rare disease industry, we’ve been working tirelessly to raise awareness around the importance of genetic testing for patients with a suspected rare disease. According to a study published in The Lancet, 72% of rare diseases are of genetic origin. 

If rare or complex conditions are primarily genetically driven, why is access to genetic testing still such a challenge? One reason access to genetic testing is limited is financial; genetic tests are expensive, and insurance coverage is limited. A study published by Neurology Genetics concluded that nearly 43% of patients whose doctors recommended genetic testing faced insurance-related barriers. 

Some key facts about rare disease genetic testing: 

1. There are five types of molecular genetic tests. Molecular tests look for changes in one or more genes. Those test types are:
   
   1. Single variant - looks for a specific variant in one gene
   2. Single gene - looks for multiple variants in a single gene 
   3. Gene panel - looks for variants in multiple genes 
   4. Whole-exome sequencing - looks at all exons in a genome, where most disease-causing variants are found  
   5. Whole genome sequencing - looks at a person’s entire DNA (genome). 
2. Approximately 72% of rare diseases have a genetic origin. 
3. It has been proven that early genetic testing reduces the time to diagnosis and is cost-effective compared to sequential or delayed testing strategies. 
4. 60% of patients tested with Probably Genetic have reportable findings. That means that over half of the patients tested with Probably Genetic received additional information on their diagnostic journey from genetic testing. 

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Table of contents

How much does whole-exome or whole-genome sequencing cost?

Does insurance cover genetic testing?

Initial considerations to determine if genetic testing will be covered by insurance

Insurance coverage by condition

Complex multi-system genetic conditions

Hearing loss conditions

Autism spectrum disorders (ASD) with additional features

Neurodevelopmental and neurological conditions

Understanding the insurance approval process: what you need to know

Pre-authorization is likely required for insurance coverage

When standard testing must come first

Documentation requirements

Genetic testing coverage differs from one insurance company to another

Before requesting insurance coverage for genetic testing

Frequently asked questions about genetic testing insurance coverage

What happens if my insurance denies my genetic test?

How long does pre-authorization take?

What if my doctor recommends genetic testing, but my insurance doesn't cover it?

Suspected conditions more commonly improved by insurance for genetic testing

How much does whole-exome or whole-genome sequencing cost? 

Costs for comprehensive genetic testing vary significantly depending on the sequencing provider, whether a complete professional interpretation is included, and whether insurance coverage is involved. 

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Whole-exome sequencing from a clinical laboratory* can cost between $555 and $5169 (according to a recent study from JAMA Network). Testing from a clinical laboratory typically includes a professional interpretation of the results in the form of a detailed report.

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Whole-genome sequencing from a clinical laboratory* can cost between $1906 and $24810 (according to a recent study from JAMA Network).  Direct-to-consumer (DTC) testing companies promote whole-genome sequencing costs for as low as $530 (according to Sequencing .com). However, DTC testing companies often fail to provide a comprehensive professional interpretation of results, leaving patients with their raw genomic data and requiring them to pay for professional services elsewhere. 

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Definitions 

Clinical laboratory*: A medical laboratory that has been certified by CLIA to perform tests that doctors can use to diagnose and treat patients. A physician must sign off on clinical lab test orders. 

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CLIA: CLIA stands for Clinical Laboratory Improvement Amendments. It's a set of U.S. federal regulations that ensure the quality and accuracy of all laboratory testing performed on humans in the United States. 

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Direct-to-consumer (DTC) testing company: A company that sells genetic tests directly to consumers without requiring a doctor's order. These tests are not used for diagnosing or treating patients.

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Probably Genetic testing: The Probably Genetic symptom assessment and genetic test application is completed by consumers (patients), but a telehealth provider signs off on all test orders. Tests are completed in a clinical, CLIA-certified laboratory and can be used by clinicians.  

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Does insurance cover genetic testing? 

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Sometimes. We know this is not the most helpful immediate answer, but whether or not an insurer will cover genetic testing, even for suspected rare conditions, depends on multiple factors. And if a claim is approved, and insurance does cover some portion of testing, what that will mean for the family is still not a straightforward answer. 

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In this article, we will break down each factor that can impact insurance coverage. Our goal is to provide you with a better understanding of what to consider, what to ask, and what to watch out for when seeking insurance coverage for a genetic test. 

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Initial considerations to determine if genetic testing will be covered by insurance 

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Insurers will evaluate a patient’s medical history to determine if genetic testing should be covered by insurance. Typically, insurers will look for the following conditions to be met to obtain coverage: 

• The patient has a suspected genetic disorder where previous genetic tests (like single gene tests or gene panels) have been inconclusive or negative, yet clinical suspicion remains high
• The condition presents as a rare disease, an undiagnosed syndrome, or a complex multi-system disorder with atypical symptoms that don't fit standard diagnostic criteria.
• There is clear clinical utility and medical necessity, meaning the genetic testing results will directly inform treatment decisions, medical management, family planning, or access to targeted therapies. 

However, it’s not necessarily that simple. Many suspected genetic disorders are not particularly well known, nor are they included in guidelines or standard clinical pathways. Some insurers will be more stringent in what they consider a suspected genetic disorder and will narrow their focus to known conditions with sufficient evidence of the impact of genetic testing on treatment planning. 

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Insurance coverage by condition 

Certain disease areas will be considered for coverage of genetic testing more easily than others. Understanding what those conditions are and what insurance providers may be looking for can help you navigate the complexities of insurance coverage. Single-gene or limited-panel testing may be approved more easily, depending on the patient's symptoms. Single-gene or limited panels are less expensive than whole-exome (WES) or whole-genome (WGS) sequencing, which makes them easier to obtain approval for. 

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Comprehensive genetic testing, WES or WGS, may be more likely to be covered by insurance if the patient’s clinical presentation suggests any of the following: 

Complex multi-system genetic conditions

What qualifies: Multiple congenital abnormalities affecting unrelated organ systems

Insurance providers prioritize coverage when patients have birth defects or developmental abnormalities that affect multiple, unconnected parts of the body. This might include a combination of heart defects, kidney problems, facial differences, and growth delays that don't fit a recognizable pattern.

Why this gets approved: When abnormalities span different organ systems, it strongly suggests an underlying genetic cause that affects early development. Standard single-gene tests are unlikely to provide answers, making comprehensive genome sequencing the most efficient diagnostic approach.

Patient perspective: If your child has been seeing multiple specialists for seemingly unrelated conditions, comprehensive genetic testing may be your best path to an accurate diagnosis.

Hearing loss conditions

What qualifies: Bilateral sensorineural hearing loss without syndromic findings, where targeted hearing loss panel testing is negative or inconclusive

This covers individuals with hearing loss in both ears that stems from problems with the inner ear or auditory nerve, but who don't have other obvious syndrome features, such as vision problems or developmental delays.

Why this gets approved: Genetic causes account for about 50% of severe hearing loss cases. When targeted gene panels (which test only the most common hearing loss genes) fail to provide answers, whole-exome sequencing can identify rare genetic variants that might otherwise be missed.

Family perspective: A genetic diagnosis can inform treatment decisions, predict whether hearing loss will progress, and provide crucial information for family planning.

Autism spectrum disorders (ASD) with additional features

What qualifies: Autism spectrum disorder with syndromic features such as congenital anomalies, seizures, or severe/profound intellectual disability, where chromosomal microarray (CGH) or targeted panel testing is inconclusive

This criterion explicitly covers individuals with autism who also have other syndrome features, seizure disorders, or significant intellectual disabilities. The combination of ASD plus these other features suggests an underlying genetic syndrome rather than isolated autism.

Why this gets approved: The American College of Medical Genetics and Genomics (ACMG) recommends that all individuals with ASD get a diagnostic evaluation. Comprehensive genetic testing may have a higher diagnostic yield and would be considered for coverage.

Important distinction: Insurance typically doesn't cover genetic testing for autism alone, but additional symptoms or diagnoses can significantly alter the risk-benefit calculation.

Neurodevelopmental and neurological conditions

What qualifies: Meeting at least two of these criteria:

• Structural or functional abnormality affecting at least a single organ system
• Global developmental delay or intellectual disability
• Complex neurodevelopmental symptoms (self-injurious behavior, movement disorders, muscle problems) 
• Severe neuropsychiatric conditions (schizophrenia, bipolar disorder, Tourette syndrome)
• Epilepsy (particularly early-onset, treatment-resistant, or epileptic encephalopathy)
• Strong family history suggesting genetic causes, including consanguinity (parents who are related)
• Unexplained developmental regression (losing previously acquired skills)
• Laboratory findings suggesting metabolic disorders

Why this combination approach works: The two-criteria requirement recognizes that genetic conditions often present with multiple, seemingly unrelated symptoms. This broader approach captures complex cases that might not fit neatly into single diagnostic categories.

For a more granular list of some of the suspected conditions more commonly approved for genetic testing by insurance, please check out the bottom of this article. 

Understanding the insurance approval process: what you need to know

Pre-authorization is likely required for insurance coverage 

Most insurance providers require pre-authorization for whole-exome or genome sequencing, meaning your healthcare provider must submit detailed clinical information demonstrating that you meet coverage criteria. This process typically takes 1-3 weeks; however, depending on how quickly your provider can compile and submit evidence, the prior-authorization step can significantly impact the diagnostic timeline.

Pro tip: Collaborate with genetic counselors or specialized rare disease programs that are familiar with insurance requirements and can efficiently navigate the approval process.

Definitions 

Pre-authorization (also known as prior authorization): is when your insurance company requires you to get their approval before you receive medical treatment. Insurance companies require prior authorization to control costs and ensure that expensive tests are truly necessary. 

Coverage criteria: are the specific requirements your insurance company has created to decide whether they'll pay for a particular medical service or test. Coverage criteria will vary insurance company to insurance company, so it’s important to understand your specific plan details. 

When standard testing must come first 

As mentioned earlier, insurance providers typically require evidence that simpler, less expensive tests have been tried first. This might include:

• Chromosomal microarray analysis (for detecting large deletions or duplications)
• Targeted gene panels (for testing genes associated with specific symptoms)
• Single-gene testing (when there's a strong suspicion of a particular condition)
• Other diagnostic or laboratory tests 

This requirement means that before requesting insurance coverage for whole-exome or whole-genome testing, it can be helpful to have completed other diagnostic or genetic testing from the list above. 

Documentation requirements

Strong insurance approval requires thorough documentation, including:

• Detailed clinical history and physical examination findings
• Family history information 
• Results of previous genetic testing
• Specialist evaluations and imaging studies
• Clear explanation of how genetic testing results will impact medical management

Genetic testing coverage differs from one insurance company to another 

To better illustrate how genetic testing coverage criteria can differ from one insurance company to another, we’ve created a simple table looking at the differences between key factors for insurance coverage approvals/denials from Aetna, Blue Cross Blue Shield (BCBS), and Cigna.

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Definitions 

Clinical utility: means the test results or findings will have a direct impact on your provider’s decisions about your medical care. 

Phenotype-genotype correlation: means that your symptoms (phenotype) match what your provider would expect from the genetic condition(s) they suspect could be the cause. In other words, your symptoms match the condition your doctor has ordered you testing for. 

ACMG: ACMG stands for the American College of Medical Genetics and Genomics. This organization publishes evidence-based guidelines for genetic and genomic diagnostics and medicine. You can review their guidelines here. 

Before requesting insurance coverage for genetic testing 

Use this checklist to get started: 

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☐ Confirm you meet your insurer's medical necessity criteria 

☐ Ensure simpler tests have been tried first 

☐ Help gather all required medical evidence to provide your physician 

☐ Work with a genetic counselor familiar with insurance requirements

Frequently asked questions about genetic testing insurance coverage

What happens if my insurance denies my genetic test?

If your genetic test claim is denied, you have several options:

Immediate steps:

• Request a detailed explanation of the denial from your insurance company. This documentation is sometimes referred to as “Explanation of Benefits” (EOB). 
• Determine your insurance policy’s appeals process. 
• Discuss next steps with your provider or your genetic counselor. 

Appeals:

• Internal appeal: An internal appeal means you request your insurance company reconsider the decision; this usually must be filed within 60 days. 
• External appeal: You can have an independent reviewer evaluate the denial if the internal appeal fails. 

Alternative options 

• Self-pay with payment plan: Ask about payment plans with the testing laboratory. You can also ask about financial assistance programs.
• Apply for free genetic testing & counseling: If you have not done so, you can apply for free genetic testing & counseling with Probably Genetic. 

How long does pre-authorization take? 

It typically takes 1-3 weeks for most genetic testing pre-authorization requests to be processed. 

Factors that affect timing:

• Completeness of documentation: Missing information can delay approval by 1-2 weeks
• Complexity of the case: Rare conditions may require additional review time
• Insurance company workload: Some insurers are faster than others
• Provider experience: Doctors familiar with genetic testing requirements typically get faster approvals; this is why working with a genetic counselor can be so helpful. 

How to speed up the process:

• Work with genetic counselors experienced in insurance authorizations
• Follow up with the insurance company if no response within 2 weeks
• Ask your physician’s office to mark urgent cases as "expedited" when appropriate.

What if my doctor recommends genetic testing, but my insurance doesn't cover it?

Options when insurance denies medically necessary testing:

Work with your provider:

• Ask if alternative tests might be covered
• Consider starting with less expensive panel testing instead of whole-exome sequencing
• Document any changes in symptoms that might strengthen the case

Alternative options: 

• Self-pay with negotiation: Labs often charge less for self-pay patients than list prices
• Apply for free genetic testing and counseling with Probably Genetic if financial constraints are a concern and you’d like to proceed with comprehensive genetic testing. 

These FAQs provide general guidance. Always consult with your healthcare provider and insurance company for specific coverage questions related to your situation. 

Suspected conditions more commonly improved by insurance for genetic testing 

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While not an exhaustive list, a patient showing sufficient symptom presentation that suggests any of the following conditions is more likely to be approved for genetic testing by insurance: 

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1. Angelman syndrome 
2. Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) 
3. Autosomal dominant polycystic kidney disease (ADPKD) 
4. CADASIL 
5. Catecholaminergic polymorphic ventricular tachycardia (CPVT)
6. Corneal dystrophy
7. Cystic fibrosis 
8. Dilated cardiomyopathy (DCM) 
9. Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy 
10. Ehlers-Danlos syndrome (EDS) 
11. Factor V Leiden 
12. Familial Hypercholesterolemia
13. Familial hypocalciuric hypercalcemia 
14. Familial nephrotic syndrome (NPHS1, NPHS2) 
15. Fragile X syndrome 
16. Hereditary ataxia 
17. Hereditary hearing loss 
18. Hereditary hemochromatosis 
19. Hereditary hemoglobinopathies
20. Hereditary hemorrhagic telangiectasia (HHT) (Osler-Weber-Rendu syndrome)
21. Hereditary pancreatitis (PRSS1)
22. Huntington disease
23. Hypertrophic cardiomyopathy (HCM) 
24. Hypophosphatasia 
25. Inherited bone marrow failure syndromes (IBMFSs) 
26. Interstitial lung disease (ILD) 
27. Kennedy disease (spinal and bulbar muscular atrophy [SBMA]) 
28. Left ventricular noncompaction (LVNC) 
29. Legius syndrome 
30. Loeys-Dietz syndrome (LDS) 
31. Long QT syndrome 
32. Malignant hyperthermia susceptibility 
33. Marfan syndrome 
34. Menkes disease 
35. Myotonic dystrophy type 1 and 2 
36. Neurofibromatosis 
37. Noonan syndrome 
38. Oculopharyngeal muscular dystrophy (OPMD) 
39. Osteogenesis imperfecta (OI) 
40. Peutz-Jeghers syndrome 
41. Prader-Willi syndrome (PWS)
42. Primary dystronia (DYT1) 
43. Spinal muscular atrophy 
44. Spinocerebellar ataxia (SCA) 
45. Thoracic aortic aneurysms and dissections (TAAD)
46. Tuberous sclerosis complex 
47. Unverricht-Lundborg disease (EPM1) 
48. Versiti aHUS 
49. Versiti congenital neutropenia 
50. Von Hippel-Lindau disease (VHL)
51. Von Willebrand Disease (VWD)

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