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Kentucky Services

Genetic Testing

Neurodevelopmental Genetic Testing

DNA strand

Helping identify underlying genetic factors related to autism, developmental delays, and neurological conditions.

At Kentucky Services, we offer neurodevelopmental genetic testing through Ambry Genetics to support a deeper understanding of conditions such as autism, developmental delays, and other neurological differences. This testing can help identify potential genetic causes and guide more personalized care.

For clients completing an autism evaluation with Kentucky Services, neurodevelopmental genetic testing through Ambry Genetics is included at no additional cost for those with Medicaid, as it is typically covered by their insurance plan.

For clients with commercial insurance or those choosing private pay, genetic testing is optional and can be added to the evaluation process if desired. Our team is happy to discuss whether this testing may be beneficial based on your or your child’s unique needs.

This testing analyzes genes associated with:

  • Autism Spectrum Disorder
  • Developmental delays
  • Intellectual disabilities
  • Neurological conditions (including seizure-related disorders)

Depending on the clinical need, testing may include:

  • Gene panels
  • Chromosomal microarray
  • Whole genome sequencing (Ambry Genetics GenomeNext)

These tests look for genetic variations, such as mutations or missing/extra pieces of DNA, that may help explain developmental or behavioral differences.

Genetic testing may be recommended for individuals who:

  • Have been diagnosed with autism
  • Have developmental or speech delays
  • Have intellectual disabilities
  • Experience seizures or neurological concerns
  • Have a family history of genetic conditions

Results from genetic testing typically fall into one of three categories:

  • Positive: A known genetic difference is identified that helps explain symptoms
  • Negative: No known genetic cause is identified at this time
  • Variant of Uncertain Significance (VUS): A genetic change is found, but its impact is not yet fully understood

Our team will review results with you and explain what they mean for care and next steps.

Genetic testing can:

  • Provide clarity around a diagnosis
  • Help guide medical or therapeutic treatment planning
  • Identify potential associated medical conditions
  • Support school and service planning
  • Offer insight for family planning

Seedlings growing

Whole Genome Testing with Ambry Genetics

When whole genome sequencing is appropriate, Kentucky Services offers Ambry Genetics’ GenomeNext testing. These slides explain the test, Ambry’s ongoing reanalysis process, and how genome testing compares with other methods.

Select a slide to open the full-size image for easier reading.

GenomeNext and GenomeReveal

Ambry Genetics GenomeNext whole genome testing analyzes coding and noncoding regions, detects several types of variants, includes the mitochondrial genome and lists a 5 to 7 week turnaround for proband-only samples. GenomeReveal RNA analysis applies to eligible DNA variants.

GenomeNext examines coding and noncoding regions, including mitochondrial DNA. The slide also describes GenomeReveal RNA analysis for eligible variants and a 5 to 7 week turnaround for proband-only GenomeNext testing.

Patient for Life

Ambry Genetics Patient for Life process: clinical scientists review new research and variant classifications, patient data are continuously reanalyzed, and providers receive revised reports and a call when relevant new findings arise.

Ambry describes a lab-driven process of research review, continuous reanalysis, and revised reporting when a new finding is relevant to a patient.

Genome compared with exome and gene panels

Ambry Genetics illustration comparing genome, exome and gene-panel testing, showing the relative scope from genome to exome to gene panel. The current whole genome testing offering is genome, not exome.

This slide compares the scope of genome, exome, and gene-panel testing. Exome appears here for comparison; the whole genome testing option described on this page is GenomeNext.

What to Expect

(Step-by-Step Process)

  1. Complete a clinical or autism evaluation
  2. Determine if genetic testing is appropriate
  3. Provide a sample (saliva, cheek swab, or blood, depending on the test)
  4. Sample is sent to Ambry Genetics for analysis
  5. Results are reviewed with a qualified provider
  6. Recommendations and next steps are discussed

For GenomeNext proband-only testing, Ambry lists a 5–7 week turnaround. Timelines for other types of testing may vary.

Genetic testing is completely voluntary. All results are handled with strict confidentiality, and our team will review consent, benefits, and limitations with you before proceeding.

Child playing with blocks

Kentucky Services

Why Choose Kentucky Services?

At Kentucky Services, genetic testing is not a standalone service—it is part of a comprehensive, multidisciplinary evaluation process.
We integrate:

  • Autism diagnostic tools (ADOS-2)
  • Adaptive functioning assessments (Vineland-3)
  • Cognitive and attention testing (KBIT-2, Creyos)
  • Clinical interviews and behavioral observations

This allows us to provide a more complete, accurate, and personalized understanding of each client.

Frequently Asked Questions (FAQ)

No. Autism is diagnosed through behavioral and developmental evaluation. Genetic testing helps identify potential underlying causes.

Testing may use a saliva or cheek-swab sample. In some cases, a blood draw may be recommended.

A negative result does not rule out a diagnosis. It simply means no known genetic cause was identified at this time.

In some cases, additional family testing may be recommended to better understand results.

Stacked pebbles

Ready to learn more or get started?

Schedule an autism evaluation or speak with our team to determine if genetic testing is right for you or your child.

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