Genetic testing

When genetic testing is indicated, Dr. Paul will order the test and a DNA saliva, buccal, or dried blood spot filter collection kit will be shipped to you. After collection, you will mail the kit with your sample back to the genetics laboratory in a prepaid package. In special circumstances or when additional metabolic genetic studies are indicated,  we will use instead only the dried blood spot sample which can be mailed in an envelope. 

Dr. Paul will contact you to discuss the results and coordinate the next steps in your care. Most of the time, a follow-up visit is required.

Your Whole Genome Sequencing (WGS) test is once in a lifetime. DNA blueprint does not change. Dr. Paul will analyze the commercial laboratory data. We can reanalyze your genome data file every 6-12 months or when indicated. 

Genetic tests are self-pay at ordering in addition to the consultation cost.

Tests offered

  • Genome1st offers Whole genome sequencing (WGS) at $1,699
  • Reanalysis of genome $699
  • RNA sequencing (cancer only)
  • Genome Sequencing and Transcriptome Analysis $ 2,999
  • Expanded newborn screening $499
  • Polygenic risk score (PRS) $499
  • Genome methylation (TBA)
  • Biological age $399

Services

Genetic Consultation (in-person or online) for
Individuals with a suspected genetic etiology and
  • Adoption or unknown family history
  • Adult complex disorders without diagnosis
  • Adverse medication effects
  • Alport syndrome
  • Alzheimer disease, dementias
  • Autism-spectrum disorders
  • Birth defects and pediatric syndromes
  • Blindness syndromes
  • Cancer predisposition; breast, other
  • Cardiomyopathies, arrhythmias, aneurysms
  • Connective tissue disorders, Marfan syndrome
  • Ehlers-Danlos syndrome
  • Hearing loss
  • Multiple fractures of unknown etiology
  • Other neurological disorders
  • Positive genetic test
  • Precision wellness
  • Positive family history of a rare condition
  • Prion disease (familial type)
  • Renal failure, proteinuria, hematuria
  • Second opinion for genetic cases
  • Seizures and epileptic encephalopathy
  • Skin disorders
  • Genetic testing
  • Whole genome sequencing (WGS)
  • Reanalysis of genome
  • RNA sequencing for cancer
  • Expanded newborn screening
  • Genome Sequencing and Transcriptome
  • Polygenic risk score (PRS)
  • Genome methylation
  • Biological age
  • For more information and pricing go to genetic testing
  • Contact