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GENETIC TESTING :. EXAMPLES OF GENETIC TESTING :. PRENATAL DIAGNOSIS HETEROZYGOTE CARRIER DETECTION PRESYMPTOMATIC DIAGNOSIS OF GENETIC DISEASE. The analysis of chromosomes, DNA, RNA @ proteins To detect abnormalities that may cause a genetic disease. SCREENING TESTS.

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genetic testing

GENETIC TESTING :

EXAMPLES OF GENETIC TESTING:

PRENATAL DIAGNOSIS

HETEROZYGOTE CARRIER DETECTION

PRESYMPTOMATIC DIAGNOSIS OF GENETIC DISEASE

The analysis of chromosomes, DNA, RNA @ proteins

To detect abnormalities that may cause a genetic disease

screening tests
SCREENING TESTS

Designed to detect treatable human diseases in their presymptomatic stage.

Are not intended to provide definitive diagnoses.

Aimed at identifying a subset of the population on whom further.

DIAGNOSTIC TEST

examples of screening test
EXAMPLES OF SCREENING TEST:
  • PAP TESTS

- Recognition of cervical dysplasia.

  • POPULATION SCREENING

-the presumptive identification of an unrecognized dz @ defect by the applction of test/examinations/othrprcedure

-to sort out apparently well persons who probably hv a dzfrm those who prbbaly do not.

-for hypercholesterolemia.

what is genetic screening
What is genetic screening?
  • One of the fastest moving fields in medical science.
  • A technique to determine the genotype or phenotype of an organism.
  • It is often used to detect faulty or abnormal genes in an organism.
types of genetic screening
TYPES OF GENETIC SCREENING:
  • Newborn Screening

-for inherited metabolic diseases

2. Heterozygote Screening

-for Tay-Sachs disease

newborn screening
Newborn Screening
  • Newborns are tested for diseases and early diagnoses allows for immediate treatment (early detection &effective intervention).
  • A blood sample is tested for genetic disorders.
  • An effective public health strategy for treatable disorder such as PKU, galactosemia, hypothyroidism

& sickle cell disease.

  • Some communities begun screening for Duschenne muscular dystrophy (by measuring creatinekinase levels in newborns)
heterozygote screening
Heterozygote Screening
  • To detect unaffected carriers of disease-causing mutations
  • Target population: group known to be at risk.
  • Usually genetic diseases involves in this heterozygote screening is “autosomal recessive disorder”- Tay-Sachs disease, -Thalassemia & Cystic fibrosis.
presymptomatic diagnosis
Presymptomatic Diagnosis
  • Indivisuals who are known to be at risk for a disorder can be tested (generally bcz of a (+)ve family history.
  • To determine whether they have inherited a disease-causing mutation before they develop clinical symptoms of the disorder.
  • Ex: Huntington Disease, adult polycystic kidney disease, hemochromatosis & autosomal dominant breast cancer.
advantage of presymptomatic diagnosis
Advantage of Presymptomatic Diagnosis
  • Can aid in making reproductive decisions.
  • Can provide reassurance to those who learn that they do @ do not carry a disease-causing mutation.
  • Early diagnosis may improve health supervision.
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