The global NGS-based newborn genetic screening market is projected to grow at a robust CAGR of 17.5% from 2022 to 2027, driven by rising parental awareness of chromosomal abnormalities and the increasing prevalence of neonatal disorders. Each year, nearly 7.9 million babies are born with birth defects many undetected at birth and often without any family history. Genetic conditions affect 3-4% of infants, with symptoms frequently appearing later in life when treatment becomes more complex. Early genetic screening empowers timely intervention, reducing the risk of severe and irreversible health complications and ensuring healthier outcomes from the very start.
Newborn screening began in the 1960s with phenylketonuria (PKU) testing a milestone that shaped early preventive care. The 1990s marked a breakthrough with tandem mass spectrometry (MS/MS), enabling simultaneous detection of multiple inherited metabolic disorders (IMDs) and revolutionizing screening efficiency. However, MS/MS is limited to metabolic disorders and cannot detect critical genetic conditions like hereditary deafness or Hemophilia B. NGS-based newborn genetic screening overcomes these gaps by analyzing disease causing genes across a wide spectrum, from IMDs to hearing loss and blood clotting disorders delivering a truly comprehensive view of a newborn’s genetic health and enabling proactive, life saving interventions.
G2M Newborn Screening covers sequencing of all exonic regions for 335 genes associated with metabolic and genetic diseases with a target size of 2.3 Mb. The panel helps in early screening for genetic and metabolic diseases that appear during the initial stages of life, providing key information for disease management and early treatment. Early detection, intervention and management could prove essential for the infant’s overall health and quality of life.
Built on internationally recognized guidelines and best practices to deliver rapid, accurate, and high-quality results.
Supports both dried blood spots and peripheral blood for seamless and convenient testing.
In-depth sequencing of coding regions to identify SNVs, Indels, and CNVs in a single streamlined analysis, ensuring unmatched precision.
Safely screens for over 300 conditions across 335 genes associated with metabolic and genetic disorders.
Employs advanced NGS-WES technology for secure data archiving, enabling future reanalysis, complemented by end-to-end support, scientific consultation for clinicians and personalized genetic counseling for families.
The conditions screened by the G2M NBS test are categorized into key clinical groups. Each category includes examples of specific disorders along with their typical management approaches.
| Disease Group | Disorder | Signs & Symptoms | Care Pathway |
|---|---|---|---|
| Metabolic | Amino Acid Metabolic Disorders | Poor feeding or vomiting, failure to thrive, developmental delay, locomotor retardation. | Special diets, medications, and nutritional supplements. |
| Organic Acid Metabolic Disorders | Vomiting, hypoglycemia, hyperammonemia, seizures, hypotonia, lethargy, coma. | Low-protein diet, carnitine supplementation, and additional dietary support. | |
| Fatty Acid β-Oxidation Disorders | Hypoketotic hypoglycemia, liver dysfunction, cardiomyopathy in neonates. | Avoid fasting, prompt illness management, carnitine if required. | |
| Endocrine Disorders | Low energy, feeding difficulties, seizures, jaundice, organ enlargement. | Tailored diet, medications, enzyme therapy, intensive care when needed. | |
| Carbohydrate Metabolic Disorders | Extreme fatigue, vomiting, weak muscle tone, seizures. | Diet modification, supplements, medications, complication management. | |
| Metabolic Epilepsy Diseases | Seizures, breathing difficulties, hypotonia, abnormal movements. | Phenobarbital first-line therapy; alternatives include levetiracetam or phenytoin. | |
| Other Inborn Errors of Metabolism | Weight loss, seizures, developmental delay, unusual urine or sweat odor. | Prevent toxic metabolite accumulation, long-term dietary and medical therapy. |
| Disease Group | Disorder | Signs & Symptoms | Care Pathway |
|---|---|---|---|
| Genetic | Deafness | Lack of response to sound, delayed speech and language development. | Medical intervention, hearing aids, cochlear implants. |
| Hemophilia B | Prolonged bleeding after procedures, excessive bruising. | Factor replacement therapy; gene therapy under evaluation. | |
| β-Thalassaemia | Fatigue, pallor, jaundice, dark urine, enlarged abdomen. | Blood transfusion, iron chelation, stem cell transplant, folic acid. | |
| Noonan Syndrome | Distinct facial features, heart defects, growth delay. | Growth hormone therapy, speech/behavior therapy, medications, surgery. | |
| Marfan Syndrome | Aortic enlargement, heart valve defects, eye and skeletal issues. | Cardiac medication, surgery, activity limitation, orthopedic support. |
| Features | Performance |
|---|---|
| Coverage uniformity (0.2X) | > 99% |
| Reproducibility (%) | 96.1 |
| Sensitivity (%) | 97 |
| On Target Ratio (%) | > 78 |
| Parameter | Description |
| Number of genes: | 335 |
| Target Size: | 1.5 Mb |
| Covered Regions: | Whole CDS / UTRs |
| Mutation Types: | SNV / InDels / CNV |
| Sample Type: | Blood |
| Platform Compatibility: | Illumina, MGI, Thermo Fisher, Element Biosciences |
| Commercial Name | Cat No. | Pack Size | Platform |
|---|---|---|---|
| GenomeKundli- New born screening NGS Test Kit | G710019-1 | 24 T | Illumina |
| G710019-2 | 96 T | Illumina | |
| G710019-3 | 96 T - EZY | Illumina - EZY | |
| GenomeKundli- New born screening NGS Test Kit | G710019-4 | 24 T | MGI |
| G710019-5 | 96 T | MGI | |
| G710019-6 | 96 T - EZY | MGI - EZY | |
| GenomeKundli- New born screening NGS Test Kit | G710019-7 | 24 T | Aviti |
| G710019-8 | 96 T | Aviti | |
| G710019-9 | 96 T - EZY | Aviti - EZY | |
| GenomeKundli- New born screening NGS Test Kitstrong | G710019-10 | 24 T | Thermo |
| G710019-11 | 96 T | Thermo | |
| G710019-12 | 96 T - EZY | Thermo - EZY |
Download useful documents and technical information of NBS (Newborn Screening).
Since its inception in 2016, Genes2me has been constantly striving towards setting a benchmark in the diagnostics space by introducing premium quality (Made in India) diagnostic kits which are CE-IVD, ISO-13485:2016, and ISO 9001:2015 certified, assuring our clients of unparalleled quality and compliance with international standards.
All products listed in the catalogue are the products of Genes2Me Private Limited. Apart from that, all other product names, trademarks and logos wherever used in the catalogue are the property of their respective owners.
© 2025 Genes2me. All rights reserved.
