WHAT IS BABYMAP?
Babymap is a comprehensive NGS based NewBorn Screening for Inborn errors in metabolism(IEM), inherited conditions and other rare genetic disorders with high focus on critical genes in the Newborns. The early detection, diagnosis, can help early intervention for the health and wellbeing of a newborn.
Why NEWBORN SCREENING (NBS)?
Globally, newborn screening (NBS) is a life-saving public health program implemented in order to screen infants for biochemical markers, shortly after birth for conditions that are treatable, but not clinically evident in the newborn period.
- High False Positive Rates (FPR) and errors due to inappropriate sample collection and storage keep traditional NBS from being 100% reliable.
- Furthermore, many genetic conditions are not covered as part of traditional NBS. These conditions may show symptoms only until a few months or years after birth.
- The metabolic system of the baby may be heavily compromised, potentially causing severe mental or physical disabilities (and, sometimes, even fatal consequences) by the time a child is brought to medical attention or a diagnosis is made.
Clinical diagnosis of cytogenetic abnormalities
Differentiation between de novo(new unexplained mutations) and familial history of disorders
Diagnosis of genetic disorders based on ACMG guidelines
To influence the management of the conditions/disorders in a better way including lifestyle interventions.
WHY BABYMAP WITH MAPMYGENOME?
- A reliable, accurate and comprehensive tool that uses DNA for the timely and accurate genetic screening test of newborns.
- BabyMap Newborn Screens for 171 conditions (4000+ markers spanning over 106 genes) which include IEMs(Organic Acid Disorders, Fatty Acid Oxidation Disorders, Amino Acid Disorder, Endocrine conditions etc.) and others such as Cystic Fibrosis, Beta- Thalassemia, Phenylketonuria and Severe Combined Immunodeficiency Disease (SCID).
- Early detection and timely therapeutic intervention is the key for management .The sooner a genetic screen is performed the greater are the chances of survival.
- Maximum coverage of known mutations is assured. Clinically significant findings, carrier findings are reported. Non-synonymous variants of unknown significance are also reported for the clinician’s reference.
Powerful NGS panel on globally recognised Illumina Platform
Extensive coverage ~4000 genetic markers, with 100-120X coverage
Detailed analysis for all known autosomal recessive conditions, including international recommendations from ACOG, ACMG
High-density screening for ~171 genetic conditions
Genetic counselling (pre- and post-test) with personalized recommendation for families (includes pedigree analysis)
TSET SAMPLE REQUIREMENTS
2-4 mL EDTA blood from each partner
1-2 µg purified DNA from each partner
HOW DOES BABYMAP WORK?
Your Doctor places a request for the test. The sample is tested for the susceptibility.
The sample processed on Illumina Global Screening Array Bead chip
Your genetic sequence is subjected to extensive Cytogenetic analysis to extract your health information.
Our team generates a comprehensive report based on genetic findings, reviews the report, and shares it with your doctor via email.