A NBS test provides the most crucial and early information on detection of disorders that can lead to serious consequences. Ideally such tests are recommended before an infant is discharged from the hospital; within 72 hours of birth as timely diagnosis can offer the most crucial time that can prevent permanent disabilities. Considering the epidemiological prevalence of metabolic disorders, NBS test becomes a necessity. This test basically detects the levels for amino acids, acylcarnitines and biochemical markers which highlight multiple disorders.
What can it detect?
NBS test is popularly used to detect disorders pertaining to amino acid metabolism, fatty acid oxidation disorders, organic acidemias, etc. Few well known conditions which can be diagnosed include:
- Phenylketonuria (PKU)
- Congenital hypothyroidism
- Cystic fibrosis
- Glucose 6 Phosphate Dehydrogenase deficiency
- Congenital Adrenal Hyperplasia
- Biotinidase deficiency
- Fatty acid metabolism disorders
- Organic acid metabolism disorders
- Disorders in amino acid metabolism and urea cycle
And many more….
Many of these defects cause debilitating conditions like mental retardation and developmental delay.
NBS test is a very efficient tool and if done in proper time has many benefits attached. These include:
- Provides the most crucial time for designing intervention strategies before symptoms develop
- Helps in growth and development of a healthy child
- The child can grow without disability and achieve its full potential
- Tests for a variety of disorders ranging from errors in metabolism, genetic and endocrine disorders
NBS tests are validated to be done using the most superior technological platform of Liquid Chromatography – Tandem Mass Spectrometry (LC – MS/MS), High-Performance Liquid Chromatography (HPLC) and the sensitive technique of ELISA. Both of these technologies ensure robust testing, uncompromised quality and detection of extremely low levels. With superior quality kits and quality control practices, our NBS test can surely bridge the very crucial testing need of the day.
Considering the spectrum of conditions mapped under metabolic disorders of newborn, providing testing services for a comprehensive evaluation becomes the need of the hour. It also makes the testing service highly beneficial for the patient and with this ideology, the NBS test in Thyrocare consists of two profiles, standardized for a complete diagnostic solution.
- Organic acid profile (11 disorders)
- Amino acid profile (11 disorders)
- Hemoglobinopathies (07 disorders)
- Biochemical panel (09 disorders)
- Fatty acid oxidation disorders (12 disorders)
Testing for the above mentioned clinical components in totality highlight a spectrum of metabolic disorders in newborns.
“A simple prick of your newborn can throw light on a lot of silent conditions which can cause extreme despair.”