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BabyMap carrier screening provides you and your physician with information regarding your reproductive risks and how they may impact your future children. A physician's summary or a genetic counseling session is necessary before purchase.
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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 UTILITY

note

Clinical diagnosis of cytogenetic abnormalities


differential

Differentiation between de novo(new unexplained mutations) and familial history of disorders


Diagnosis

Diagnosis of genetic disorders based on ACMG guidelines


influence

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.

MAPMYGENOME OFFERINGS

diagnose

Powerful NGS panel on globally recognised Illumina Platform


750000-dna

Extensive coverage ~4000 genetic markers, with 100-120X coverage


high-density

Detailed analysis for all known autosomal recessive conditions, including international recommendations from ACOG, ACMG

copy-number

High-density screening for ~171 genetic conditions


Genetic counselling

Genetic counselling (pre- and post-test) with personalized recommendation for families (includes pedigree analysis)

TSET SAMPLE REQUIREMENTS

extracted

2-4 mL EDTA blood from each partner

extracted

1-2 µg purified DNA from each partner

HOW DOES BABYMAP WORK?



sample

Sample Collection

Your Doctor places a request for the test. The sample is tested for the susceptibility.

lab

Lab Processing

The sample processed on Illumina Global Screening Array Bead chip

analysis

Data Analysis

Your genetic sequence is subjected to extensive Cytogenetic analysis to extract your health information.

report

Report Generation

Our team generates a comprehensive report based on genetic findings, reviews the report, and shares it with your doctor via email.

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