The+Testing+Process

=Testing =

Lets start with NEWBORN GENETIC TESTING

Each states sets different standards as to which rare genetic disorders they test for. All 50 states in the United States require newborns to be tested for PKU. Many other countries also routinely screen infants for PKU. Newborn screening identifies almost all cases of PKU.

// Initial Testing //
**Screening during pregnancy** It's also possible to detect PKU in a developing fetus using chorionic villus sampling (CVS). During this procedure, a needle is inserted through a pregnant woman's lower abdomen and into the uterus. Another option is to insert a catheter up through the cervix into the chorionic villi, which forms the lining of the placenta. Through the needle, your doctor removes a small sample of cells for genetic testing. Your doctor and a genetics counselor can help you decide if these tests are right for you and what to do with the results.

**Testing your baby right after birth** A PKU test is conducted a day or two after your baby's birth. In the test, a nurse or lab technician collects a few drops of blood from your baby's heel or the crook of your baby's arm using a needle or lancet. A laboratory tests the blood sample for certain metabolic disorders, including PKU. The test isn't done before the baby is 24 hours old or before the baby has ingested some protein in the diet to ensure accurate results. If you don't deliver your baby in a hospital or are discharged soon after the birth, you may need to schedule a newborn screening with your pediatrician or family doctor. Your baby may also have additional tests to confirm the diagnosis, including more blood tests and urine tests. You and your baby may also undergo genetic testing to identify gene mutations.

Depending on the newborn's Phenylalanine test results, the baby is started on a Low Protein Enteral Formula, that supplies modified protein and vitamins.

Depending on the doctor and the test results, the testing frequency can vary.

// Newborn & Infant Testing //
Newborns diagnosed with PKU, will usually be tested quite frequently. The Dr will reccomend appropriate actions to take with regard to the diet, formula, and breastfeeding. Newborn testing is done by using a lancet to prick the baby's heel. <span style="font-family: Verdana,Geneva,sans-serif;">Then the blood is squeezed from the baby's heel and dotted onto a card with 4-5 circles on it. <span style="font-family: Verdana,Geneva,sans-serif;">The cirlces of blood must be filled in completely and saturated. <span style="font-family: Verdana,Geneva,sans-serif;">Once the blood spots on the card have dried, it is then mailed to a testing facility.



//** Child & Adult Testing **//
<span style="font-family: Verdana,Geneva,sans-serif;"> ﻿ ﻿ Children are tested less frequently than babies. <span style="font-family: Verdana,Geneva,sans-serif;">Once a child starts eating solids, tests are done frequently to determine the amount of Phe the child can have from food. <span style="font-family: Verdana,Geneva,sans-serif;">Once a general consesus is made about the amount of Phe (from food) a child can have while maintaining reasonable Phe levels, the tests are then done less frequently. <span style="font-family: Verdana,Geneva,sans-serif;">Children and adults are tested by pricking their fingers, much like a diabetes test. They still use the same blood test cards with the circles

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//<span style="font-family: Verdana,Geneva,sans-serif; font-size: 120%;">Results //
<span style="font-family: Verdana,Geneva,sans-serif;">The optimum test result lies within the 3-7 range. <span style="font-family: Verdana,Geneva,sans-serif;">The average person (without PKU) is generally within the 4-8 range.

<span style="font-family: Verdana,Geneva,sans-serif;">This testing is done FOR LIFE !

<span style="font-family: Verdana,Geneva,sans-serif; font-size: 120%;">//More Resources// <span style="font-family: Verdana,Geneva,sans-serif; font-size: 120%;">//﻿//