Genetic test class.pptVIP

Targeted therapy Metabolic diseases Progeria Methods of testing Cytogenetics Molecular genetics DNA sequencing Chip RFPL Cost for one test ~ 200-500 RMB for 1 mutation Personalized medicine Pharmacogenetics Anethesia: codein Cancer: Genetic test A beautiful new baby Happily ever after… What’s wrong with my baby? puffy eyes, thick tongue, coarse facial features, a hoarse cry, skin mottling (spotting of different coloring on the skin) lethargy (extreme drowsiness or sluggishness). Severe mental retardation 1 of 4000 births. Congenital Primary Hypothyroidism Newborn 3-5% birth defects ~ 2% genetic disorders Most common: Down syndrome Smith Cystic fibrosis PKU 6 out of every 100 children in China are born with a birth defect. In hospital Physical exam Gentic Test result Day 1: test Day 3: Result Congenital Primary Hypothyroidism Treatment: T4 Congenital Primary Hypothyroidism lack or absence of thyroid hormone essential to growth of the brain and the body. If hormone replacement is not initiated within 4 weeks, physical growth will be stunted. mental retardation. Treatment daily pill of thyroid hormone thyroxine Normal and healthy life Food and life Preventing Life-Long Disability Tayla Cunzenheim Born in Wisconsin on December 23, 2002, Shortly after they brought Tayla home on Christmas Day, they received a call from the hospital telling them that Tayla’s newborn screening test showed that she had a congenital disorder PKU phenylketonuria (PKU), an inherited and treatable metabolic disorder. body cannot process the amino acid called phenylalanine (Phe), which is in almost all foods that contain protein. If left untreated, the Phe level can get too high in the blood, resulting in mental retardation PAH deficiency?PKU Special food for PKU PKU 1 in 12,000 babies homozygous for PKU A drop of blood /index.php/learn_more/what_is_newborn_screening/ Newborn screen life and death be treated and thus not face life-long disability or cognitive impairme