A joint collaboration between
A single test to detect mutations in 84 genes responsible for
monogenic diseases of early atherosclerosis
cardiologists; not
genetic counselors
Turnaround
Time
medical
guidelines
leads to significant
cost savings
A single test to detect mutations in 84 genes responsible for
monogenic diseases of early atherosclerosis
A single test to detect mutations in 84 genes responsible for monogenic diseases of early atherosclerosis
cardiologists; not
genetic counselors
Turnaround
Time
medical
guidelines
leads to significant
cost savings
Covered conditions include the following
Premature Coronary
Artery Disease
Familial
Hypercholesterolemia
Familial
Hypertriglyceridemia
The FH Foundation recommends cascade
screening for those with definite or probable FH.
What is Cascade Screening?
“The identification of close relatives of an
individual with a disorder to determine
whether the relatives are also affected or
are carriers of the same disorder. The
process begins with the identification of
an individual with the condition and/or a
pathogenic variant associated with the
condition and then extending genetic
testing to his/her at-risk biological
relatives. This process is repeated as more
affected individuals or pathogenic variant
carriers are identified.” ¹
The FH Foundation recommends cascade
screening for those with definite or probable FH.
What is Cascade Screening?
“The identification of close relatives of an individual with a disorder to determine whether the relatives are also affected or are carriers of the same disorder. The process begins with the identification of an individual with the condition and/or a pathogenic variant associated with the condition and then extending genetic testing to his/her at-risk biological relatives. This process is repeated as more affected individuals or pathogenic variant carriers are identified.” ¹
FH Foundation Clinical Guidelines
The world’s leading cardiologists assessed the utility of FH genetic testing. They determined: 2
definitive diagnosis
FH Genetic Testing
and adherence to therapy
FH Foundation Clinical Guidelines
The world’s leading cardiologists assessed the utility of FH genetic testing. They determined: 2
1. Facilitation of definitive diagnosis
2. Pathogenic variants indicate higher
cardiovascular risk, which indicates the
potential need for more aggressive lipid lowering
3. Increase in initiation of and adhere to therapy
4. Cascade testing of relatives
Proprietary Database
35,000+ papers on inherited
cardiovascular diseases (400
added monthly)
153,000 individuals
Approximately 65,000 families
500,176+ genetic variants
Proprietary Database
35,000 papers on inherited
cardiovascular diseases (400
added monthly)
153,000 individuals
Approximately 65,000 families
500,176 genetic variants
