Genetics FAQ


As a patient why would I seek the services of a geneticist?

Many patients with complicated medical problems affecting many organ systems causing widespread problems such as developmental delays, seizures, autism, enlarged hearts, or liver disease are born with an alteration in their inherited blueprint as the source for their difficulties.  Unfortunately, many go undiagnosed for years resulting in decreased quality of life for untreated problems or sometimes even death.  Because they are trained in the diagnosis and management of rare disorders, geneticists can often quickly identify the root of a patient’s problems despite years of testing and investigation by other doctors.

What is the difference between a Medical Geneticist and a specialist like Dr Kendall?

Like the difference between a family doctor and a cardiologist. Dr Kendall is a super sub-specialist in metabolic and mitochondrial disorders for over 20+ yrs. She is not a pediatrician or neurologist like insurance companies try to jam her into, since they do not have a drop down selection in their computer system for her area of expertise. 

Medical Genetics is typically focused on birth defects and dysmorphology, mental retardation, autism, skeletal dysplasia, connective tissue disorders, and prenatal diagnosis.  

Metabolic (or biochemical) genetics involves the diagnosis and management of inborn errors of metabolism in which patients have enzymatic deficiencies that perturb biochemical pathways involved in metabolism of carbohydratesamino acids, and lipids

Mitochondrial genetics concerns the diagnosis and management of mitochondrial disorders, which have a molecular basis but often result in biochemical abnormalities due to deficient energy production.

What are the indications for a genetic referral?

Referrals from your primary physician or other doctor to a geneticist may be indicated for several reasons. In general, a consultation with a geneticist should be considered if a hereditary condition is suspected. Some insurance companies require that your primary physician make a referral to a geneticist prior to the consultation. While the requirements for a referral will vary from insurance to insurance, in general a genetic referral requires the following information:

  • Patient information
  • Name and address of the referrer
  • Reason for the referral
  • Information about the suspected diagnosis, if known
  • Family history

Who should have a genetic consultation?

Individuals and families who are concerned about a genetic disease may benefit from a genetic consultation whether or not testing is available for that condition. Many people are seeking information and coping strategies as much as test results.

Reasons for referral for a genetics consultation are often grouped by age: Preconception/Prenatal, Pediatric, and Adult. We specialize is Pediatric and Adult genetic disorders. Common reasons for referrals to our practice are given below, but these lists are not exhaustive.

Common reasons for a pediatric genetics consultation:

  • Abnormal newborn screening results
  • One or more major malformations in any organ system
  • Abnormalities in growth
  • Mental retardation or developmental delay
  • Autism
  • Blindness or deafness
  • Presence of a known or suspected genetic disorder or an inborn error of metabolism
  • Family history of a known or suspected genetic disorder, birth defect, or an inborn error of metabolism

Common reasons for an adolescent/adult genetics consultation:

  • Mental retardation
  • Personal or family history of hereditary disorders
  • Personal or family history of a known or suspected genetic condition or an inborn error of metabolism
  • Blindness or deafness

Development of a degenerative disease

How do I know if I or a family member has a genetic disorder?

Sometimes you or other family members have clusters of problems that suggest the possibility of an inherited disorder.  However, diagnosing a genetic disorder is complex and usually requires an evaluation by a medical geneticist with knowledge of rare disorders, an understanding of complicated testing, and experience with long term management of those disorders.  Only after such an evaluation will you know if you or another family member is at risk for a genetic disorder.

What are mitochondrial disorders?

Mitochondrial disorders are disorders that affect the body’s ability to convert the food we ingest into energy packets, known as ATP, for use in all body functions.  These disorders, which occur in 1 in 4,000 to 8,000, are complex and difficult to diagnose.  There are several hundred sub-types of a mitochondrial disorder with varying prognoses.  Appropriate diagnosis allows for the institution of preventative and supportive care and counseling for future family planning.

Is there a difference between the terms mitochondrial disorder, dysfunction, or disease?

Mito disease and disorder are often interchangeable. Mito dysfunction implies an impairment in mitochondrial energy production due to secondary factors such as external toxins (such as various drugs) or other disorders. 

Primary mito disease or disorder implies a primary disturbance in energy production due to an alteration in one of the many genes and proteins that are directly involved  in energy production. 

What are inborn errors of metabolism?

Inborn errors of metabolism are disorders that affect the body’s ability to convert one chemical compound to another resulting in a wide variety of medical problems often including developmental delays and other neurological difficulties.  With appropriate diagnosis, many have a variety of treatments that may cure or greatly improve the outcome of affected individuals.