Babymap

Service Description

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. 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 UTILITY -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. Sample type: Blood in EDTA TAT: 4-6 weeks