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NBS, newborn metabolic screening, tests for inborn errors of metabolism, early hearing loss detection and intervention for newborns.
To evaluate newborns for congenital abnormalities, which may include hearing loss; identification of hemoglobin variants such as thalassemias and sickle cell anemia; presence of antibodies that would indicate a HIV infection; or metabolic disorders such as homocystinuria, maple syrup urine disease (MSUD), phenylketonuria (PKU), tyrosinuria, and unexplained physical or intellectual disabilities.
Area Of Application:
Ears for hearing tests.
Whole blood for metabolic tests.
(Method: Thyroxine, TSH, and HIV—immunoassay; amino acids—tandem mass spectrometry; hemoglobin variants—electrophoresis)
|Neonates–3 d||Normal pure tone average of –10 to 15 dB|
|Thyroid-Stimulating Hormone (TSH)|
|Age||Conventional Units||SI Units (Conventional Units × 1)|
|Neonates–3 d||Less than 40 micro-international units/mL||Less than 40 milli-international units/L|
|Age||Conventional Units||SI Units (Conventional Units × 12.9)|
|Neonates–30 d||5.4–22.6 mcg/dL||69.7–291.5 nmol/L|
|Hemoglobinopathies||Normal Hemoglobin Pattern|
|Blood spot amino acid analysis||Normal findings. Numerous amino acids are evaluated by blood spot testing, and values vary by method and laboratory. The testing laboratory should be consulted for corresponding reference ranges.|