Genetic Testing

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GENETIC TESTING :

The analysis of chromosomes, DNA, RNA @ proteins

To detect abnormalities that may cause a genetic disease

EXAMPLES OF GENETIC TESTING:

PRENATAL DIAGNOSIS

HETEROZYGOTE CARRIER DETECTION

PRESYMPTOMATIC DIAGNOSIS OF GENETIC DISEASE

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Screening Tests

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

DIAGNOSTIC TEST

Are not intended to provide definitive diagnoses.

Designed to detect treatable human diseases in their presymptomatic stage.

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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/othr prcedure

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

-for hypercholesterolemia.

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Principles Of Screening

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Genetic Screening

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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.

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TYPES OF GENETIC SCREENING:

Newborn Screening

-for inherited metabolic diseases

2. Heterozygote Screening

-for Tay-Sachs disease

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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 creatine kinase levels in newborns)

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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.