Genetic testing

When genetic testing is indicated, Dr. Paul will order the test and a DNA saliva or buccal collection kit will be shipped to you. After collection, you will be able to 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 a dried blood spot on a special newborn screening paper which is easier to ship 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 offered.

Your Whole Genome Sequencing (WGS) test is once in a lifetime. DNA blueprint does not change. Dr. Paul will re-analyze the commercial laboratory data with the initial genome sequencing. 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

  • Whole genome sequencing (WGS) with reanalysis of genome by Dr. Paul $1,699
  • Reanalysis of genome only $699
  • RNA sequencing (per referring lab)
  • Expanded newborn screening $499
  • Metabolic testing (per Quest, Labcorp)
  • Polygenic risk score (PRS) $399
  • Methylation testing (per Quest, Labcorp)
  • 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 only
  • RNA sequencing for specific cases
  • Expanded newborn screening
  • Metabolic genetic testing
  • Polygenic risk score (PRS)
  • Methylation testing
  • Biological age
  • For more information and pricing go to genetic testing
  • Contact