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Test Code NEOSHL Neonatal Screen

Additional Codes

SHL Newborn Screening Testing 
Epic ID LAB480

 

Specimen Requirements

Collect 5 Spots (0.6 ml) of blood on special collection card.

Neonatal collection card needs to be completed.

Stability/Transport

Temperature Stability Preferred Transport
Room Temp 7 days X

 

Unacceptable Conditions

sample time < 24 hours after birth

Performing Lab

State Hygienic Lab

Methodology

Quantitative Chemiluminescent Immunoassay

Useful For

Screen for the following congenital metabolic disorders: 1) T4: Neonatal hypothyroidism. 2) Galactosemia: Inability to metabolize galactose resulting in failure to thrive on milk. 3 Hemoglobinopathies: Diseases that affect the kind of hemoglobin or the amount of hemoglobin in red blood cells. These include Hemoglobin E, C, D, and S. 4)Congenital Adrenal Hyperplasia: Enzyme deficiency that prevents the production of the stress hormone cortisol and a salt retaining hormone aldosterone and increases the production of a male hormone androgen. Life threatening vomiting and severe dehydration may develop. 5)Expanded Screening Disorders: A.Amino Acid Disorders: Inability to break down specific proteins into amino acids. B.Fatty Acid Oxidative Disorders: Inability to break down stored fats into energy. C.Organic Acid Disorders: Chemical imbalance in which fats, sugars or proteins are not broken down properly, causing toxicity. 6)Biotinidase Deficiency: Deficiency results in improper functioning of several enzymes, leading to irreversible neurological damage. 7) Cytstic Fibrosis: Inherited disorder which causes lung infections and digestive problems with malnutrition

Day(s) Performed

Monday-Friday

Report Available

5-7 days

CPT Code Information

S3620