Single Gene Defects

There are many different single gene defects that require clinical care by a physician or other healthcare professional. Listed in the directory below are some, for which we have provided a brief overview.

• Single Gene Defects
  • Autosomal Dominant: Myotonic Dystrophy
  • Autosomal Recessive: Cystic Fibrosis, Sickle Cell Anemia, Tay Sachs
  • Overview of Single Gene Defects
  • X-linked Dominant: Incontinentia Pigmenti
  • X-linked Recessive: Red-Green Color Blindness, Hemophilia A
  • Studies for Single Gene Defects: DNA (Direct and Indirect)

For more information:

• Genetic Counseling and Testing
  • Genetic Services: When, Where, How
  • Uses of Genetic Testing
  • When to Seek Genetic Counseling

• Identification, Treatment, and Prevention of Birth Defects
  • Before Your Next Pregnancy
  • When to Seek Genetic Counseling
  • Vitamin, Gene, and Enzyme Replacement Therapy
  • The Human Genome Project When to Seek Genetic Counseling

• Inheritance
  • Multifactorial Inheritance
  • Non-Traditional Inheritance
    • Mitochondrial Inheritance: Leber’s Optic Atrophy
    • Trinucleotide Repeats: Fragile-X Syndrome
    • Uniparental Disomy: Prader-Willi Syndrome, Angelman Syndrome

• Evaluating a Child for Birth Defects
  • Overview of Newborn Screening for Birth Defects
  • Medical History and Genetic Testing
  • Overview of Birth Defects
  • Testing for Birth Defects
    • Biochemical Genetic Testing
    • Chromosome Studies: Karyotype, Extended Banding
    • Studies for Single Gene Defects: DNA (Direct and Indirect)

If you cannot find the information in which you are interested, please visit the Medical Genetics Online Resources page in this Web site for an Internet/World Wide Web address that may contain additional information on that topic.

Genetic Testing and Counseling
at Rush

The Section of Genetics at Rush University Medical Center in Chicago, Illinois, provides a full range of services for the diagnosis, counseling and treatment of patients (infants, children, adults and pregnant women) who have or are concerned about genetic and congenital disorders.

At Rush, physicians from more than 30 specialties address the full range of pediatric diseases and congenital problems, from the common to the complex. Rush pediatricians, pediatric surgeons, nurses and other health professionals provide care that aims to fulfill community needs, empower parents and advance pediatric care.

For more information about the genetic testing and counseling at Rush visit the Genetic Diagnosing and Counseling home page.

Or phone (888) RUSH-KID or (888) 787-4543.

Looking for More Health Information?

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• Visit Discover Rush’s Web Resource page to find articles on health topics and recent health news from Rush University Medical Center in Chicago, Illinois. You will also find many helpful links to other areas of our site.

Looking for a Doctor?

Rush University Medical Center in Chicago, Illinois, is a leader in caring for people of all ages, from newborns through older adults.

Just phone (888) 352-RUSH or (888) 352-7874 for help finding the Rush doctor who’s right for you.