What is Medical Technology ?• Medical Technology, which is a proper subset of health technology,

encompasses a wide range of healthcare products and is used to

diagnose, monitor or treat diseases or medical conditions

affecting humans.

What is Medical Technologists ?• Medical Technologists, also known as clinical laboratory

technologists, perform and analyze the results of complex

scientific tests on blood and body fluids.

What is nucleic acid used for in the human body?

• The nucleic acids are the building blocks of living organisms. You may have heard of DNA described the same way. Guess what? DNA is just one type of nucleic acid. Some other types are RNA, mRNA, and tRNA. All of these "NAs" work together to help cells replicate and build proteins. NA? Hold on. Might that stand for nucleic acid? It might.

NUCLEIC ACIDSIN RELATION TO MEDICAL TECHNOLOGY

THE FOLLOWING ARE SOME OF THE TESTS PERFORMED BY MEDICAL TECHNOLOGISTS INVOLVING NUCLEIC ACIDS:

NUCLEIC ACID TESTINGBLOOM SYNDROMELESCH-NYHAN SYNDROMEFANCONI ANEMIA

Nucleic acid testing

• Nucleic acid testing (NAT) is a molecular technique for screening blood donations to reduce the risk of transfusion transmitted infections (TTIs) in the recipients, thus providing an additional layer of blood safety.• NAAT may also be used to detect other STI pathogens, including

herpes simplex virus (HSV), mycoplasma, ureaplasma, donovanosis, trichomoniasis and chancroid. The availability of these tests may vary and may be limited to research settings. Providers should discuss the appropriate testing options with their local laboratory service.

Bloom Syndrome

Bloom syndrome is an inherited disorder characterized by short stature, sun-sensitive skin changes, an increased risk of cancer, and other health problems.People with Bloom syndrome have low birth weight and length. They remain much shorter and thinner than others in their family, growing to an adult height of less than 5 feet.

Lab StudiesThe gross overproduction of uric acid is often evident in routine blood and urine studies. Uric acid levels in the blood typically are elevated, a helpful clue that can be obtained by routine clinical testing; however, hyperuricemia has many different causes, and some patients with Lesch-Nyhan disease have serum uric acid levels in the normal range. As a result, serum uric acid levels do not provide reliable diagnostic information.A 24-hour urine sample typically demonstrates a marked increase of uric acid over normative values, particularly if corrected for patient weight. However, 24-hour samples are notoriously difficult to collect. Calculation of the concentration ratio of urinary uric acid to creatinine in a spot urine specimen provides an alternative method, though less information is available concerning normative values. Hyperuricosuria is neither sensitive enough nor specific enough to provide reliable diagnostic information.

Definitive diagnosis is obtained most often by measurement of HPRT enzyme activity in blood or tissue. Blood samples often are used, though intact fibroblasts or lymphocytes provide more precise information with prognostic implications.Diagnosis is confirmed by identifying a molecular genetic mutation in the HPRT gene. Molecular genetic diagnosis provides an ideal tool for carrier detection and prenatal screening of at-risk pregnancies.Macrocytic anemia, sometimes profound, is relatively common. Vitamin B-12, folate, and iron levels are typically normal.

Lesch-Nyhan disease

• Lesch-Nyhan disease is a genetic disorder associated with 3 major clinical elements: overproduction of uric acid, neurologic disability, and behavioral problems. The overproduction of uric acid is associated with hyperuricemia. If left untreated, it can produce nephrolithiasis with renal failure, gouty arthritis, and solid subcutaneous deposits known as tophi. The neurologic disability is dominated by dystonia but may include choreoathetosis, ballismus, spasticity, or hyperreflexia.[3] The behavioral problems include intellectual disability (mental retardation) and aggressive and impulsive behaviors. Patients with the classic disease also develop persistent and severe self-injurious behavior.

DiagnoseIn patients with Lesch-Nyhan disease, uric acid levels in the blood and urine are typically, but not always, increased. Definitive diagnosis is generally obtained by measurement of the hypoxanthine-guanine phosphoribosyl transferase (HPRT) enzyme. Confirmation of the diagnosis is most reliably made by identification of the HPRT1 gene.

Fanconi Anemia

Fanconi anemia (fan-KO-nee uh-NEE-me-uh), or FA, is a rare, inherited blood disorder that leads to bone marrow failure. The disorder also is called Fanconi’s anemia.FA prevents your bone marrow from making enough new blood cells for your body to work normally. FA also can cause your bone marrow to make many faulty blood cells. This can lead to serious health problems, such as leukemia (a type of blood cancer).

• Specialists Involved• A geneticist is a doctor or scientist who studies how genes work and how diseases

and traits are passed from parents to children through genes.• Geneticists do genetic testing for FA. They also can provide counseling about how

FA is inherited and the types of prenatal (before birth) testing used to diagnose it.• An obstetrician may detect birth defects linked to FA before your child is born. An

obstetrician is a doctor who specializes in providing care for pregnant women.• After your child is born, a pediatrician also can help find out whether your child

has FA. A pediatrician is a doctor who specializes in treating children and teens.• A hematologist (blood disease specialist) also may help diagnose FA.

Prepared by:Mercado, Princess Cate R.Alejandrino, Ma. Lourdes F.Aspillaga, Liezel