Genome-StemMatch-combo-product

GenomeScope Newborn is an advanced genetic test that identifies the variations in DNA causing infants to be born with or develop severe genetic conditions.

• What's Tested?
  Using the advanced NGS (Next Generation Sequencing) technology, the test reports results with a detection rate of >95% and reporting accuracy of >99% (Q30).

  GenomeScope Newborn collects data on 4000+ genes and analyzes 1500 clinically relevant genes associated with childhood-onset conditions*, like:

  

  Blood

  Beta Thalassemia | Fanconi Anemia

  

  Bone

  Osteopetrosis | Exostoses

  

  Cancers

  Wilms Tumor | Retinoblastoma

  

  Heart

  Aortic Aneurysms | Cardiomyopathies

  

  Endocrine

  Hypothyroidism | Adrenal hyperplasia

  

  Immune

  Severe combined immunodeficiency | Chronic granulomatous disease

  

  Kidney

  Polycystic kidney disease | Hyperoxaluria

  

  Metabolism

  Krabbe disease | Mucopolysaccharidosis Type III

  

  Muscle

  Muscular dystrophy | Nemaline Myopathy

  

  Neurodegenerative

  Neurofibromatosis Type I | Autism spectrum disorder

  

  Others

  Sensorineural Hearing Loss | Optic atrophy Type 1

• Is This Right For Me?
  Rare Can Be Common

  

  There are 7000 known rare diseases. At any point in time, they affect 263 to 446 million people all over the world.

  

  80% of these rare diseases have a genetic origin, with half of them targeting children. Unfortunately, the lack of adequate and timely newborn genetic screening leaves many young ones ailing with severe conditions and disabilities.

  

  GenomeScope Newborn highlights the risk of such conditions in newborns, ensuring faster treatment support. It also detects genetic conditions that may benefit from early treatment but aren't covered under conventional newborn screening.

  Wherever treatment doesn't exist, it prepares families to care for ill children, improving quality of life.

  Going A Step Beyond Family History

  

  Family history is usually the first step in understanding the risk of a newborn developing a genetic condition.

  

  If a genetic condition seems to run in the family, the chances for the newborn to have the same condition are quite high.

  

  However, many infants with inherited conditions are born to parents with no known family history of a disease.

  

  GenomeScope Newborn test takes a step beyond your family history and identifies genetic conditions that might become the cause of illness in your baby.

  Timing Is Important

  

  Signs and symptoms of genetic conditions can be visible from birth or may develop over time.

  

  And when these symptoms appear, it can take an average of 2 to 3 misdiagnoses, 8 physicians, and between 5.6 to 7.6 years before arriving at an accurate diagnosis.

  

  This misdiagnosis or delay in identifying a condition can lead to severe complications, including premature death and lifelong disability.

  

  GenomeScope Newborn enables early diagnosis and faster treatment support, reducing psychological, social, and financial burdens on the parents in the future.

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  A Panel With A Purpose

  Newborn sequencing produces vast genomic data that has answers to all the questions surrounding your baby’s health.

  GenomeScope Newborn test interprets this data through a carefully curated set of 1500 genes where variations present

  

  Strong/definite evidence to cause a genetic condition.

  

  Correlation with highly penetrant conditions, i.e., a genetic condition in which ≥80% of individuals with the mutation are symptomatic.

  

  Association with childhood-onset conditions.

  Therefore, opting for the test can enable timely intervention, detection, and management of various early-onset conditions.

  Genetic Roadmap For Family Planning

  

  Couples who have had a baby with a genetic condition may have a higher chance of conceiving another affected baby.

  

  In such cases, either one or both partners can be carriers of disease. Since they do not show any symptoms, couples are generally unaware of their carrier status.

  

  Luckily, test insights and genetic counseling sessions can enable decision-making at the right time. It helps such couples to create a clear plan for future pregnancies and explore options like IVF with pre-implantation genetic testing or finding a non-carrier sperm/egg donor.

  Resource For Future Investigation

  

  GenomeScope Newborn doesn't rule out the risk/possibility of your baby developing a genetic condition in the future. However, it delivers a comprehensive DNA blueprint that can be useful in future investigations.

  

  The test collects data on additional 4000+ genes that can be queried if the baby develops symptoms that can't be explained by the 1500 previously reported genes. If new symptoms develop, genes specific to those symptoms can be conveniently re-analyzed within 5 days.

  

  Re-analyzing this data will help to classify and study the relevance of the newly identified variant(s) within our restricted gene panel, saving both time and money.

• Results And Recommendations
  Understanding the specific cause of childhood-onset genetic conditions can enable faster treatment and help identify and improve potential treatment options.

  What Can The Test Tell You?

  

  GenomeScope Newborn collects data on 4000+ genes & analyzes 1500 genes associated with childhood-onset conditions in infants below 24 months of age.

  

  Reports variants with a high correlation to the genetic condition.

  

  Outlines the conditions where early treatment can make a difference.

  

  Reports the conditions that have limited or no treatment options.

  What The Test Is Not About?

  

  It does not guarantee the lifelong validity of test results. Genetic testing may show some variations in the future with the discovery of new genetic mutations responsible for certain genetic conditions.

  

  The test results do not cover lifestyle diseases like blood pressure, cholesterol, adult disorders, etc.

  

  Carrier status for autosomal recessive genetic conditions is not reported in this test. Individuals may opt for knowing their carrier status after 18 years or older when they can make an informed decision regarding the implications of the test.

  A Positive Report:

  A disease-causing mutation has been identified.

  Test Results can highlight the probability of a variant/mutation to be:

  

  Disease-causing variant (Pathogenic) >99%.

  

  Increase the susceptibility/predisposition to a genetic condition (Likely pathogenic) between 90% - 99%.

  

  Detected but difficult to be classified based on currently available scientific evidence (Variant of Uncertain Significance or VUS) <90%.

  Note: The above differentiation is according to the ACMG variant differentiation guidelines.

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  Next Steps

  

  Speak To Our Genetic Counsellors Consult
  our genetic counselor to understand the test results better and plan for the possible treatment options accordingly.

  

  Consult A Physician
  Diagnosis of a genetic condition helps physicians move towards timely prevention, intervention, and management. It also allows planning for the possible treatment options specific to the baby’s unique health care needs.

  

  Possible Treatment Options Following Test Results:

  • Blood Stem Cell Transplant (49 medical conditions)
  • Medications
  • Surgery
  • Dietary Modifications

  A Negative Report

  

  It does not rule out the presence of a disease-causing variant as the test has a restricted gene panel specific to childhood-onset diseases. A physician may recommend further testing.

  

  It does not eliminate all chances of developing a genetic condition in the future. In case of future presentation of symptoms, Exome re-analysis aids in reclassification and understanding of the significance of the identified variant(s).

  

  We offer one free-of-cost re-analysis within a year from the baby’s birth, only including genes specific to symptoms of the disease.

  

  Data can be stored and retrieved for re-analysis up to 5 years after the test. A copy of the data is shared on a removable hard drive for an additional fee of ₹2,000.

• Collection Process
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