General Genetics and Whole Genome Sequencing

To support continuous care, we manage treatment for adults who had a variety of genetic conditions as children. We also provide genetic testing for at-risk family members.

We offer consultations for individuals with a personal or family history of a wide range of complex genetic diagnoses. These include polycystic kidney disease, hemochromatosis, Turner syndrome, Fragile X syndrome, premature ovarian failure and more.

We also evaluate adults with undiagnosed and misdiagnosed conditions. We do this by analyzing their personal and family medical history, symptoms, clinical examination findings, imaging, laboratory results and other data. We use our findings to determine which genetic testing can help identify a genetic cause for a condition.

Whole Genome Sequencing

One of the tests we offer is whole genome sequencing (WGS). This comprehensive genetic test for adults detects nearly all known genetic variations, or mutations, in the human genome. WGS can find genetic abnormalities that may be missed in other tests.

WGS is used to diagnose adults with these conditions, among others:

  • Unusual symptoms
  • Intellectual disability
  • Heart disease
  • Birth defects
  • Epilepsy
  • Early-onset dementia
  • Schizophrenia
  • Kidney failure

Who Is WGS For?

You may consider having an evaluation for a diagnostic WGS if you have:

  • A long, complicated medical journey with no results, or a condition with an unknown cause
  • Broad, complex or unspecific symptoms, such as kidney damage or failure, that do not appear to be linked to a specific cause
  • Two or more seemingly unrelated conditions
  • A rapidly deteriorating condition
  • Earlier, inconclusive or negative genetic test results
  • Findings on a direct-to-consumer (DTC) test that concern you

If you have questions about any of our services or are interested in scheduling an appointment, please call 818-748-4748 or email our program.