Patients

What to expect from a genetic evaluation

The genetic evaluation starts with a comprehensive analysis of your personal and family medical record. It includes your family pedigree analysis, morphological physical examination, a differential diagnosis list, genetic counseling, and appropriate genetic testing. In conclusion, Dr. Paul will provide you with a comprehensive report with tailored management plan and recommendations for you and your family.

Dr. Paul will order the test and the DNA saliva or buccal collection kit will be shipped to you. After collection, you will be able to mail your biological sample back to the genetics laboratory in a prepaid package. In special circumstances or when additional metabolic genetic studies are indicated, will use instead a dried blood spot on a special newborn screening paper which is easier to ship it 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.

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