Many individuals with a diagnosis of autism spectrum disorder may have an identifiable genetic cause for the disorder. There are multiple testing options available, and testing is typically done in a stepwise fashion, while others may opt to have whole genome sequencing done to cover testing in a comprehensive manner.
Genetic testing for immune disorders is unfortunately underutilized, even though there are over 300 genes associated with primary immunodeficiency (PID), and over 600 genes associated with other immune disorders and cytopenia.
Genetic testing for developmental delay has been commonly utilized such as chromosomal microarray, but often stops short of comprehensive testing options, such as exome or whole genome sequencing.
Tailored session for disease risk assessment based on review of child's medical history, pregnancy and birth history, medical records, family history, and lifestyle. Condition examples: autism spectrum disorders, immune related disorders, developmental delay, seizures, disorders of sexual development, monogenic obesity, psychiatric, metabolic, rare disease. I highly encourage obtaining detailed physical examination of child prior to testing to improve laboratory's genetic data interpretation.
Includes 90 minutes session. Fee: $350.
Post test counseling session: (only applicable if pursuing genetic testing) 45 minutes. Fee: $100
Additional family member: counseling and follow up sessions. Fee: $150*only for specific same condition identified in original affected family member. If other indications warrant counseling reduced fee option will be available.
Exome or Whole Genome Sequencing: the most comprehensive genetic test available - for diagnosing the genetic cause of rare diseases or disorders or children on a diagnostic odyssey with no clear diagnosis. This is the same diagnostic laboratory test many top institutions utilize to diagnose their rare disease patients, available to you without the long wait time to be seen in a genetics clinic. Includes pharmacogenomic testing. I highly encourage obtaining detailed physical examination of child prior to testing to improve laboratory's genetic data interpretation.
Session includes everything in the Pediatric Genetics session, plus consenting and ordering of WES or WGS, Fee: $450
Testing is sometimes covered by insurance, but in most cases insurance will not cover the cost or self pay is lower than the cost paid towards deductible. Self pay test cost: $1,400-$3,500 depending on test type and turn-around time if expedited results needed
For parents who have had genetic testing or counseling for their child and are looking for a second opinion on the results or want to explore their options for further genetic testing. Especially relevant if your child's genetic test was completed 5+ years ago or if you have variants of uncertain significance noted on the report. Does not include ordering of genetic testing, but can be added on as separate service if desired.
Includes 30 minute session after reviewing your case. Fee: $150
I also offer counseling and evaluation of sudden unexpected death in infants or young individuals. This can be a uniquely sensitive subject for many and I tailor these sessions with utmost care and consideration. I have a strong focus in this area of genetic counseling both in the research realm and in helping families through this difficult experience over the last 8 years.
Includes 60 minute session. Fee: $150
All sessions include a post-session consult note
If you have any other genetics related questions or do not see a service of interest listed above, I may be able to provide a tailored session at an agreed upon fee. please inquire for a 15 minute complimentary phone consultation to ensure we are a great fit to work together.
Most clinical genetic testing can be performed from saliva or buccal (cheek) swab samples that you can supply from the comfort of your home with no additional costs for shipping.
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