Inborn Errors of Metabolism (Iem) Summary Report: Sr. No. Test Methodology Result Test Type

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CRM NO Name Father Name Lab ID

190593000012 B/o. V CHARISHMA RAMBABU 80341485


Package Gender DOB/Age Referred By
BS 7 FEMALE 18/08/2021 (2 Days 2 Hrs) Dr. BANDAVI
Hospital name City Pre Term / Full Term Baby Weight (Kg)
C D R HOSPITAL RAJMUNDRY Full term 2.500
Specimen Source Specimen Notes Collection Date & Time Received Date & Time
Venous Blood Acceptable 20/08/2021 11:10 26/08/2021 14:00
Date of Report & time Blood Transfusion Transfusion Date Special Feeds / IVF / TPN/ Supplements
27/08/2021 00:30 NO NO Yes

INBORN ERRORS OF METABOLISM (IEM) SUMMARY REPORT

Sr. No. Test Methodology Result Test Type Page


1 TIME-RESOLVED FLOUROIMMUNOASSAY SCREENING Negative Screening 2
REPORT

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.

It is important to monitor baby's health and take a proactive approach should


there be any unhealthy condition(s) within or beyond scope of this test. HB-If an increased amount of adult hemoglobin is noted, the infant is presumed
to have been transfused (Including Intrauterine transfusion).
A negative screening assay result does not rule out the possibility of an underlying
metabolic / genetic disease. HB-Carriers of beta thalassaemia and HbLepore cannot be excluded at this age.

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

HB (Covered under Hemoglobinopathies package)

Dr. Vidhya Vishwanathan M.D Dr. Rushni.S MD


Consultant Biochemist Lab Director

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CRM NO : 190593000012
NAME : B/o. V CHARISHMA

TIME- RESOLVED FLOUROIMMUNOASSAY SCREENING REPORT- SUMMARY


Observations:
All the analytes are within the normal range.
Interpretation:
The tested sample is screened NEGATIVE for the list of disorders tabulated in page 2.

Recommendation:
Please correlate the results with other clinical and diagnostic findings.

Initial Report Y Duplicate Report Revision Report Version No 1

Disorder Parameter Result* Result Value Reference Remarks

Congenital Adrenal 17-OHP 3.6 NMT 64 nmol/L Normal


Hyperplasia
Congenital TSH** 2.20 NMT 20 µU/mL Normal
Hypothyroidism
Glucose 6 Phosphate G6PD 62.1 NLT 3 U/dL Normal
Dehydrogenase
deficiency
Cystic Fibrosis IRT 16.3 NMT 90 ng/mL Normal
Profound Biotinidase BTD 83.6 NLT 15 U/dL Normal
deficiency
Phenylketonuria PHE 115.58 NMT 250 µmol/L Normal
Classical Galactosemia T GAL <1.15 NMT 25 mg/dL Normal

* 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 **

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