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What Is Genetic Testing Results For Life
What Is Genetic Testing Results For Life
www.LabResultsForLife.com
What is Genetic Testing?
And what is its value?
• Constitutional
– Tests for mutations that affect ALL CELLS in
the body, and have been there since
conception
• Acquired
– Tests for changes that affect only certain cells
or cell types in the body, and that occurred
later in life
Genetic Tests for Constitutional Mutations
• Molecular Tests
• Cytogenetic Tests
• Biochemical Tests
Molecular Test: Example
• Analysis of DNA sequence
in patient with a rare
inherited disease
– Muscular Dystrophy
– Gene: DMD
– Clinical Picture
• 1 in 3500 male births
• progressive muscle weakness
starting in early childhood
• wheelchair by age 12
• death in 20s
Molecular Test: Muscular Dystrophy
Missing enzyme:
Phenylalanine Hydroxylase
Measure amount of
Phenylalanine in baby’s
blood
How is this information useful?
• Can diagnose the baby in time to
treat and avoid all clinical
consequences of the disease
Treatment: Restrict phenylalanine in
the diet
• Can test siblings of affected child
to see if they are carriers for the
disease (1 in 70 in the general
population are carriers)
Genetic Tests for Acquired Mutations
• Molecular Tests
• Cytogenetic Tests
Recreational Genetics
– 23andMe, KnowMe, Navigenics
Nutrigenomics
– Sciona, Genelex, Market America, Suracell
Ancestry Testing
– African Ancestry,GeneTree,DNAPrint
Skin and Hair Care
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– HairDx, Dermagenetics l us
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Summary
• Constitutional genetic tests impact patients with
inherited disorders and their families, by
providing information about diagnosis,
prognosis, treatment, and informing reproductive
decisions
• Genetic tests for acquired diseases impact
patients with diseases like cancer, provide
information about diagnosis and prognosis, and
inform treatment decisions
• Genetics and genetic testing impacts many
phases of our lives, and will do so even more in
the future