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?
Largest CAP-accredited Genomics sequencing lab in South Asia
Best in class accuracy and easy interpretable reporting
Vast coverage of 60+ inherited genetic disorders
Free expert genetic counselling sessions with certified, multilinguistic genetic counselors
Pan-India presence for easy sample collection
Higher accuracy and low residual risk, regardless of ethnicity
Test Details
Test Code | Test Name | Disorders Covered | Sample Type | Turnaround Time (TAT) |
---|---|---|---|---|
MGM2704 | Newborn Screening (NBS+)-Comprehensive Panel | 65 | Dried Blood spots(FTA Cards) | 24 - 48 Hours |
MGM2705 | Newborn Screening 1(NBS1) | 61 | Dried Blood spots(FTA Cards) | 24 - 48 Hours |
BabySecure Newborn Screening Panels
Disorders | NBS+ | NBS1 | |
---|---|---|---|
Disorders Screened by Tandem Mass Spectrometry (TMS) | |||
A | Fatty Acid Oxidation Disorders | ||
1 | Carnitine / Acylcarnitine Translocase Deficiency | ✓ | ✓ |
2 | 3-Hydroxy Long Chain Acyl-CoA Dehydrogenase Deficiency | ✓ | ✓ |
3 | Medium Chain Acyl-CoA Dehydrogenase Deficiency | ✓ | ✓ |
4 | Neonatal Carnitine Palmitoyl Transferase Deficiency Type II | ✓ | ✓ |
5 | Very Long Chain Acyl-CoA Dehydrogenase Deficiency | ✓ | ✓ |
6 | Carnitine Palmitoyl Transferase Deficiency Type I# | ✓ | ✓ |
7 | 2,4-Dienoyl-CoA Reductase Deficiency | ✓ | ✓ |
8 | Multiple Acyl-CoA Dehydrogenase Deficiency | ✓ | ✓ |
9 | Any ne Short-chain Acyl-CoA Dehydrogenase Deficiency | ✓ | ✓ |
10 | Trifunctional Protein Deficiency | ✓ | ✓ |
11 | Short chain Hydroxy Acyl-CoA Dehydrogenase Deficiency | ✓ | ✓ |
12 | Medium Chain Ketoacyl-CoA Thiolase Deficiency | ✓ | ✓ |
B | Organic Acid Disorders | ||
13 | 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency | ✓ | ✓ |
14 | Glutaric Acidemia Type I | ✓ | ✓ |
15 | Isobutyryl-CoA Dehydrogenase Deficiency | ✓ | ✓ |
16 | Isovaleric Acidemia | ✓ | ✓ |
17 | 2-Methylbutyryl-CoA Dehydrogenase Deficiency | ✓ | ✓ |
18 | 3-Methylcrotonyl-CoA Carboxylase Deficiency | ✓ | ✓ |
19 | 3-Methylglutaconyl-CoA Hydratase Deficiency | ✓ | ✓ |
20 | 2-Methyl-3-Hydroxybutyric Aciduria Methylmalonic Acidemias | ✓ | ✓ |
21 | Methymalonyl-CoA Mutase Deficiency | ✓ | ✓ |
22 | Methylmalonic Acidemia (Cobalamin Disorders) | ✓ | ✓ |
23 | Methylmalonic Acidemia with Homocystinuria | ✓ | ✓ |
24 | Maternal Vitamin B12 Deficiency | ✓ | ✓ |
25 | Any ne Mitochondrial Acetoacetyl-CoA Thiolase Deficienc | ✓ | ✓ |
26 | Propionic Acidemia | ✓ | ✓ |
27 | Multiple CoA Carboxylase Deficiency | ✓ | ✓ |
28 | Malonic Aciduria | ✓ | ✓ |
C | Amino Acid Disorders | ||
29 | Argininemia | ✓ | ✓ |
30 | Argininosuccinic Aciduria | ✓ | ✓ |
31 | 5-Oxoprolinuria | ✓ | ✓ |
32 | Carbamoylphosphate Synthetase Deficiency# | ✓ | ✓ |
33 | Ornithine Transcarbamylase Deficiency# | ✓ | ✓ |
34 | Citrullinemia | ✓ | ✓ |
35 | Citrullinemia Type II# | ✓ | ✓ |
36 | Homocystinuria | ✓ | ✓ |
37 | Hypermethioninemia | ✓ | ✓ |
38 | Hyperammonemia, Hyperornithinemia, Homocitrullinuria Syndrome# | ✓ | ✓ |
39 | Hyperornithinemia with Gyral Atrophy# | ✓ | ✓ |
40 | Maple Syrup Urine Disease Phenylketonuria | ✓ | ✓ |
41 | Classic Phenylketonuria | ✓ | ✓ |
42 | Benign Hyperphenylalaninemia | ✓ | ✓ |
43 | Defects of Biopterin Cofactor Biosynthesis | ✓ | ✓ |
44 | Defects of Biopterin Cofactor Regeneration Tyrosinemia | ✓ | ✓ |
45 | Transient Neonatal Tyrosinemia | ✓ | ✓ |
46 | Tyrosinemia Type I# | ✓ | ✓ |
47 | Tyrosinemia Type II | ✓ | ✓ |
48 | Tyrosinemia Type III | ✓ | ✓ |
49 | Nonketonic Hyperglycemia# | ✓ | ✓ |
D | Other Disorders | ||
50 | Liver Disease | ✓ | ✓ |
51 | Carnitine Uptake Deficiency | ✓ | ✓ |
E | Other Observations | ||
52 | Hyperalimentation | ✓ | ✓ |
53 | Medium Chain Triglyceride Oil Administration | ✓ | ✓ |
54 | Treatment with Benzoate, Pyvalic Acid, or Valproic Acid | ✓ | ✓ |
Disorders Screened by Other Technologies | |||
55 | Presence of EDTA Coagulants in Blood Specimen | ✓ | ✓ |
56 | Congenital Hypothyroidism | ✓ | ✓ |
57 | Galactosemia | ✓ | ✓ |
58 | Congenital Adrenal Hyperplasia | ✓ | ✓ |
59 | Glucose-6-Phosphate Dehydrogenase Deficiency | ✓ | ✓ |
60 | Biotinidase Deficiency Phenylketonuria | ✓ | ✓ |
61 | Cystic Fibrosis | ✓ | ✓ |
62 | Sickle Cell Anemia | ✓ | ✓ |
63 | Sickle-C Disease | ✓ | ✓ |
64 | S-ßeta Thalassemia | ✓ | ✓ |
65 | Hb 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.