PGxAI InheritRisk is a comprehensive carrier screening test designed to detect pathogenic variants associated with inherited conditions. Using monogenic analysis and AI-powered interpretation, it helps individuals and families assess reproductive risk and make informed decisions
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Detects clinically significant variants in autosomal and X-linked conditions
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Reports carrier status with zygosity, inheritance pattern, and offspring risk
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Includes actionable insights for reproductive risk assessment and partner testing
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Concise, One-Page Summary of Key Carrier Status Findings
Genes Covered
HBB
Carrier of Sickle Cell Trait
DMD
Carrier of Duchenne Muscular Dystrophy
CFTR
Carrier of Cystic Fibrosis
GBA
Carrier of Gaucher Disease
PAH
Carrier of Phenylketonuria
SMN1
Carrier of Spinal Muscular Atrophy
Use & Evidence
Who It’s For
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Couples planning pregnancy
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Fertility clinics and reproductive endocrinologists
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Prenatal and preimplantation genetic counseling programs
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General practitioners offering preventive care
Scientific Basis
PGxAI InheritRisk aligns with the latest guidelines from the
American College of Medical Genetics and Genomics (ACMG), offering
a comprehensive, population-neutral carrier screening approach.
The test encompasses a broad panel of autosomal recessive and
X-linked conditions, ensuring equitable evaluation across diverse
populations.
Carrier screening is recommended by both ACMG and the American
College of Obstetricians and Gynecologists (ACOG) as an integral
part of reproductive planning, even for individuals without a
known family history of genetic disorders. Studies have
demonstrated that expanded carrier screening can identify carriers
for various conditions in approximately 24% of individuals tested,
highlighting its significance in proactive healthcare decisions
Hum Genet. 2019