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Progenesis Main Focus

Progenesis is a San Diego-based company founded in 2015 that develops and offers non-invasive genetic tests for patients on their family planning journey. We offer a variety of services that can be customized to meet the needs of every patient we serve. The Progenesis team is a motivated group of genetic specialists, researchers, laboratory professionals, and analysts who are passionate about improving our patients' lives. As pioneers in genetic screening technologies, our scientists are constantly pursuing research initiatives to advance our services and expand our understanding of human genetics.
Address: 4150 Regents Park Row Suite 245 La Jolla, CA 92037

Email: [email protected]
Phone: (858) 257-2122
Fax: (858) 469-8600

Avenir®

Carrier Screening for Inherited Disorders

UNDERSTANDING INHERITANCE PATTERNS

Many factors including ethnicity, gender, and family history affect your risk of having a genetic disorder and potentially passing it on to your children. When the mutation is recessive, there is a 25% of having a child with an inherited disease. This risk increase to 50% with dominant mutations. Learn more about how mutations are inherited and how they can cause disease below.

Facts About Inherited Disorders

  • Autosomal conditions are caused by gene mutations located on autosomal chromosomes.
  • In autosomal recessive disorders, both copies of the gene must be mutated in order to cause a disease.
  • In an autosomal dominant inheritance, one mutated copy of the gene is sufficient to cause the disease.
  • An individual who has a mutation in only one copy of a gene is considered a carrier.
  • Carriers are typically asymptomatic, but they have a risk of passing the mutated gene to their children.
  • Although these disorders are relatively rare, an  average person may be a carrier for at least eight significantly detrimental disorders.
  • When both parents are carriers, there is a 25% chance that they will have an affected child; this couple has a 50% of having a child who is also a carrier for the disease.
  • Genetic screening is the only way to know if you and your partner are at risk of passing on inherited diseases before you start a family.

X-linked Conditions

X-linked disorders are so named because they are caused by genes located on the X chromosome. Females have two copies of the X chromosome, while males have one X and one Y chromosome. The single copy of the X chromosome puts males at an increased risk of having X-linked disorders. Assessing just the mother’s carrier status is enough to determine the risk of having an affected child. A carrier mother has a 50% chance of passing on her mutated copy of the gene to her children. Carrier females typically exhibit mild symptoms or none at all because they still possess one healthy copy on their other X chromosome. However, all sons who inherit the mutated gene will be affected with the disease because they have no healthy copies to compensate.

Since screening the mother’s genetic background is sufficient to evaluate the risk of X-linked disease, patients using egg donors should consider screening for these disorders as disease-causing mutations may originate from the donor. Our Comprehensive panel tests for 124 X-linked diseases. For a full list of disorders included on this panel, click here.

Cancer

The genetics of cancer is a complicated story. Through widespread efforts of cancer researchers around the world, our understanding of the role of genetics in cancer has developed tremendously. It is important to understand that cancer is a multi-factorial disease, where both genetic and environmental factors contribute to risk on an individual basis. A person who inherits a cancer-risk gene does not necessarily show symptoms or ever develop cancer, but they can still pass this gene to their children. Although not all forms of cancer are inherited, studies have identified over 50 hereditary cancer syndromes with strong evidence for a genetic link.

Our Cancer panel screens for 71 inherited cancer syndromes and includes those recommended by the National Cancer Institute. If you or your partner have a family history of cancer, Avenir® can help assess your child’s risk.

Ethnicity and Genetic Diseases

Some genetic diseases are more common in particular ethnic groups compared to the general population. This is because people in the same ethnic group share some genetic information inherited from common ancestors. Common examples include:

  • Ashkenazi Jewish – Tay-Sachs Disease, Cystic Fibrosis
  • African – Thalassemia, Sickle Cell Disease
  • Asian – Thalassemia, Cystic Fibrosis
  • Caucasian – Cystic Fibrosis
  • Mediterranean – Thalassemia, Sickle Cell Disease

Our Comprehensive Panel screens for disorders recommended by ACOG and the Victor Center for the Prevention of Jewish Genetic Diseases for an extensive screening of individuals of Ashkenazi Jewish descent. Click here to see the full list.