Inborn Errors of Metabolism (Iem) Summary Report: Sr. No. Test Methodology Result Test Type
Inborn Errors of Metabolism (Iem) Summary Report: Sr. No. Test Methodology Result Test Type
Inborn Errors of Metabolism (Iem) Summary Report: Sr. No. Test Methodology Result Test Type
DISCLAIMER
All investigations have their limitations which are imposed by the limits of If the newborn is premature, retest is suggested when adjusted gestational age is
sensitivity and specificity of individual assay procedures as well as the quality of 40 weeks.
specimen received by the laboratory.
It is presumed that the received specimen belongs to the patient named or HB-Variant hemoglobins may require further testing by the laboratory to
identified in the test request form. diagnose.
HB-Presence of Hb Bart's with any newborn screen result indicates the presence
Partial reproduction of this report is not permitted. of alpha thalassemia of unknown severity.
The metabolites and health conditions mapping is not mutually unique and there Investigations performed is not intended to replace the medical advice and or
can be other forms in which an abnormality may be apparent. Similarly, the health treatment obtained from a qualified healthcare practitioner as it doesnot cover
condition may not exclusively be an outcome of the disorders in consideration. all the metabolic disorders
Page 1 of 2
CRM NO : 190593000012
NAME : B/o. V CHARISHMA
Recommendation:
Please correlate the results with other clinical and diagnostic findings.
* This Graph represents the value corresponding to results values. Each box represents the reference value. Results value is shown as dot.
* NMT - Not More Than, NLT - Not Less Than. ** TSH values are represented in Serum unit (Conversion factor: 1 µU/mL blood = 2.22 µU/mL serum).
17-OHP - 17a-OH-progesterone, TSH** - Thyroid Stimulating Hormone, G6PD - Glucose-6-Phosphate Dehydrogenase, IRT - Human Immunoreactive Trypsin(ogen),
BTD - Profound Biotinidase, PHE - Phenylalanine, T GAL - Total Galactose (galactose and galactose-1-phosphate)
REFERENCES
1. https://www.aap.org/en-us/advocacy-and-policy/aap-health-initiatives/PEHDIC/Pages/Newborn-Screening.aspx
2. Sudhanshu S, Riaz I, Sharma R, Desai MP, Parikh R, Bhatia V. Newborn Screening Guidelines for Congenital Hypothyroidism in India: Recommendations of the
Indian Society for Pediatric and Adolescent Endocrinology (ISPAE) ʹPart II: Imaging, Treatment and Follow-up. The Indian Journal of Pediatrics. 2018 Jun
1;85(6):448ʹ53.
** End Of Report **
Page 2 of 2