BIOCHEMICAL GENETICS
Why is Newborn Screening vital? Some medical conditions cannot be seen by simply looking at the baby. It is therefore recommended that all babies are screened, even if they look healthy.
Though not all conditions can be treated easily, it is still helpful to know about the condition as early as possible.
Newborn screening tests help to identify potentially treatable or manageable congenital disorders within first days of birth. Life-threatening health problems, mental retardation, and serious lifelong disabilities can be avoided or minimized if a condition is quickly identified and treated. These disorders include:
- Metabolic disorders
- Endocrine disorders
- Hematological disorders
The test is simply done from a blood spot sample collected within few hours from the birth of a baby from his/her heels on a small special filter paper. Advanced technology called Tandem Mass Spectrometer (TMS) could do the test and results could be ready within 72 working hours.
As Newborn Screening is a screening test and some babies are still immature a second filter paper card is collected for confirmation. If the result is still positive some other confirmatory tests should be performed to get the final diagnosis. The confirmatory tests will be shown in the final report.
List of services
| Test | Importance of test | Method of analysis | Sample type | Storage conditions of Sample | TAT (Days) |
|---|---|---|---|---|---|
| Amino acids , Acylcarnitine and Organic acids | Inborn errors of metabolism such as PKU, MSUD, MCAD, VLCAD organic acidemias | LC- MS/MS | Blood collection for new born should be between 48-72 hours after birth, blood dripped (from heel) to filter paper & dried
| Room temperature | 3 |
| TSH | Elevated TSH = Congenital Hypothyroidism. If not treated, symptoms could lead to mental retardation and permanent brain damage. | Fluoroimmunoassay (DELFIA) | |||
| IRT | Elevated IRT = Cystic Fibrosis (CF). Symptoms are identified by functional abnormalities in: | ||||
| G6PD | G6PD Deficiency X-chromosome linked defect in G6PD gene | ||||
| HEMOGLOBIN VARIANTS SCREENING (Hemoglobin) | Beta-Thalassemia Sickle Cell Anemia Genetic defects may lead to abnormalities in the hemoglobin structure, hence causing thalassaemic syndromes, and the hereditary persistence of fetal Hb. | HPLC | In case of neonates: Blood collection for new born should be between 48-72 hours after birth, blood dripped (from heel) to filter paper & dried In case of adults: EDTA blood | 4°C | 2-3
|
In relation to the request, please note that for better and more accurate results, it is good to mention gestational period before birth on request form. Also, the sample should be collected after starting the feeding or (before the intra-parenteral feeding) or before any blood transfusion.
If any of the previous notes is not fulfilled please mention the reasons in the clinical history part of the request form
For more information please contact:
Phone: 17 237 311
E-mail: newborn@agu.edu.bh
For Biochemical tests Request Form, please click here.