Newborn Screening Test

Advanced Newborn Screening portfolio

Secure the baby from the impact of inherited metabolic disorders

What is BabySecure, and why is it important?

BabySecure Newborn screening test is a simple genetic test done 24 hours after (not before) a baby is born to identify serious metabolic disorders the baby might have been born with. These disorders, if undetected and untreated, can have adverse consequences for the baby.

Why is this test necessary?

BabySecure is essential because it aids in the early identification of disorders in newborns. Early detection allows for prompt initiation of treatment before the disorder causes harm to the baby.

Who needs to get tested and when do you need to get tested?

Testing is recommended for any newborn after 24 hours of birth, and the test is ideally conducted between 24 to 72 hours after birth. Even if this time window is missed, the test can still be performed. There is no age limit, but the sooner the test is conducted, the better. Early identification of a disorder enables the initiation of treatment at the earliest possible stage.

How is the BabySecure Newborn Screening test performed?

The initial step involves administering a painless heel prick.

Following the heel prick, a few drops of blood from the baby's heel are carefully placed on a specialized type of filter paper.

The paper is allowed to dry before being sent to the laboratory, where tests are conducted using Tandem Mass Spectrometry (TMS) and other advanced technologies.

Why MedGenome?

01

Largest CAP-accredited Genomics sequencing lab in South Asia

02

Best in class accuracy and easy interpretable reporting

03

Vast coverage of 60+ inherited genetic disorders

04

Free expert genetic counselling sessions with certified, multilinguistic genetic counselors

05

Pan-India presence for easy sample collection

06

Higher accuracy and low residual risk, regardless of ethnicity

Test Details

Test CodeTest NameDisorders CoveredSample TypeTurnaround Time (TAT)
MGM2704Newborn Screening (NBS+)-Comprehensive Panel65Dried Blood spots(FTA Cards)24 - 48 Hours
MGM2705Newborn Screening 1(NBS1)61Dried Blood spots(FTA Cards)24 - 48 Hours

BabySecure Newborn Screening Panels

DisordersNBS+NBS1
Disorders Screened by Tandem Mass Spectrometry (TMS)
AFatty Acid Oxidation Disorders
1Carnitine / Acylcarnitine Translocase Deficiency
23-Hydroxy Long Chain Acyl-CoA Dehydrogenase Deficiency
3Medium Chain Acyl-CoA Dehydrogenase Deficiency
4Neonatal Carnitine Palmitoyl Transferase Deficiency Type II
5Very Long Chain Acyl-CoA Dehydrogenase Deficiency
6Carnitine Palmitoyl Transferase Deficiency Type I#
72,4-Dienoyl-CoA Reductase Deficiency
8Multiple Acyl-CoA Dehydrogenase Deficiency
9Any ne Short-chain Acyl-CoA Dehydrogenase Deficiency
10Trifunctional Protein Deficiency
11Short chain Hydroxy Acyl-CoA Dehydrogenase Deficiency
12Medium Chain Ketoacyl-CoA Thiolase Deficiency
BOrganic Acid Disorders
133-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency
14Glutaric Acidemia Type I
15Isobutyryl-CoA Dehydrogenase Deficiency
16Isovaleric Acidemia
172-Methylbutyryl-CoA Dehydrogenase Deficiency
183-Methylcrotonyl-CoA Carboxylase Deficiency
193-Methylglutaconyl-CoA Hydratase Deficiency
202-Methyl-3-Hydroxybutyric Aciduria Methylmalonic Acidemias
21Methymalonyl-CoA Mutase Deficiency
22Methylmalonic Acidemia (Cobalamin Disorders)
23Methylmalonic Acidemia with Homocystinuria
24Maternal Vitamin B12 Deficiency
25Any ne Mitochondrial Acetoacetyl-CoA Thiolase Deficienc
26Propionic Acidemia
27Multiple CoA Carboxylase Deficiency
28Malonic Aciduria
CAmino Acid Disorders
29Argininemia
30Argininosuccinic Aciduria
315-Oxoprolinuria
32Carbamoylphosphate Synthetase Deficiency#
33Ornithine Transcarbamylase Deficiency#
34Citrullinemia
35Citrullinemia Type II#
36Homocystinuria
37Hypermethioninemia
38Hyperammonemia, Hyperornithinemia, Homocitrullinuria Syndrome#
39Hyperornithinemia with Gyral Atrophy#
40Maple Syrup Urine Disease Phenylketonuria
41Classic Phenylketonuria
42Benign Hyperphenylalaninemia
43Defects of Biopterin Cofactor Biosynthesis
44Defects of Biopterin Cofactor Regeneration Tyrosinemia
45Transient Neonatal Tyrosinemia
46Tyrosinemia Type I#
47Tyrosinemia Type II
48Tyrosinemia Type III
49Nonketonic Hyperglycemia#
DOther Disorders
50Liver Disease
51Carnitine Uptake Deficiency
EOther Observations
52Hyperalimentation
53Medium Chain Triglyceride Oil Administration
54Treatment with Benzoate, Pyvalic Acid, or Valproic Acid
Disorders Screened by Other Technologies
55Presence of EDTA Coagulants in Blood Specimen
56Congenital Hypothyroidism
57Galactosemia
58Congenital Adrenal Hyperplasia
59Glucose-6-Phosphate Dehydrogenase Deficiency
60Biotinidase Deficiency Phenylketonuria
61Cystic Fibrosis
62Sickle Cell Anemia
63Sickle-C Disease
64S-ßeta Thalassemia
65Hb Variants

FAQs

These disorders are inherited and cannot be prevented but they are treatable. Even healthy looking babies and those with no family history of such disorders may have them. If a baby is born with a disorder, early detection and treatment is the only solution. Failure to start the treatment in time may result in serious consequences.

The first step is to make a painless heel prick. A few drops of blood from the baby’s heel are then placed on a special type of filter paper. The paper is allowed to dry and is then sent to the lab where tests are performed using Tandem Mass Spectrometry (TMS) and other technologies.

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