Avenir® Essential

Neurologic, Cognitive: affecting brain, eyes, or spinal cord, potentially impacting intellectual ability or behavior.

Metabolic, Endocrine: affecting gastrointestinal tract, liver, kidneys, endocrine glands, or reproductive organs.

Circulatory, Respiratory: affecting lungs, heart, blood, or immune system.

Skin, Bones, Muscle: affecting skin, hair, bones, or muscles.

Shortened Life Expectancy: Increased risk of mortality in infancy or childhood. Decreased lifespan resulting from life-threatening complications.

Treatments Available: Most genetic disorders have no cure, but treatments are typically specific to the patient and focus on reducing or managing symptoms.

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Disease Name	X-linked?	Biological Systems Affected				Clinical Outcome		Recommended By
Disease Name	X-linked?	Neurologic, Cognitive	Metabolic, Endrocrine	Circulatory, Respiratory	Skin, Bones, Muscle	Shortened life expectancy	Treatments Available	ACMG	ACOG	Victor Center
Beta thalassemia
Cystic fibrosis
Duchenne and Becker muscular dystrophy
Sickle cell anemia
Spinal muscular atrophy
Tay Sachs Disease

Our Essential panel screens for disorders recommended by the American College of Medical Genetics and Genomics (ACMG) and the American Congress of Obstetricians and Gynecologists (ACOG).

ACMG is a society of health professionals that strives to establish the best clinical and laboratory practices pertaining to genetic initiatives. In July 2013, ACMG published a list of recommendations for reporting findings in clinical DNA. With the goal of preventing morbidity and mortality, the list is comprised of inherited cancers as well as autosomal and X-linked diseases. See the full list and read more about how these conditions and genes were selected here. Each of these clinically relevant disorders are available on our customizable Avenir® panels. Inherited cancers on the ACMG list are tested on our Cancer Panel, while the remaining autosomal and X-linked disorders are screened on Avenir® Essential.

ACOG is an organization of medical specialists dedicated to the improvement of women’s health. In March 2017, ACOG released a Committee Opinion regarding carrier screening for genetic conditions. Detailed recommendations are available for specific conditions that are more common in the population. These include spinal muscular atrophy, Tay-Sachs disease, cystic fibrosis, and various hemoglobinopathies. See the full discussion about these diseases here. ACOG also suggests expanded genetic screening for individuals of Ashkenazi Jewish heritage; these conditions are tested on our Comprehensive panel.

By synthesizing the recommendations of these two groups, we have developed a genetic panel that screens for 23 of the most medically relevant genetic disorders in the United States.

Progenesis Inc.
Address: 4150 Regents Park Row,
Suite 245,
La Jolla, CA 92037

Phone: (858) 257-2122
Fax: (888) 810-6079

About Progenesis

Progenesis is a San Diego based company that develops and offers genetic testing services for patients throughout their family planning journey. Progenesis was the first company in the U.S. to offer Next Generation Sequencing (NGS) for preimplantation genetic testing. Through optimization of the NGS platform, Progenesis confidently maintains the most accurate testing in the IVF field with the lowest rate of mosaicism.