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GenomeScope Newborn test identifies variations in genes associated with childhood-onset conditions before the appearance of any signs or symptoms. Insights from the test can enable timely intervention that paves the way for proactive health decisions as well as an informed future.

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

  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 Test 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 test doesn’t rule out the risk or 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
  • 1

    Collect

  • 2

    Fill Form

  • 3

    Dispatch

With Family Floater; your siblings, their spouses, as well as their children can enjoy the life-saving benefits of community banking and get access to the largest registry of Indian origin stem cells without needing to have a baby themselves.

• What’s Included?
  All LifeCell community banking members who wish to share the protection of community stem cell banking to their extended family’s health can now do so at a very affordable price and without necessarily needing to have made a personal contribution themselves to the community.

  Finding a Matched Unit

  LifeCell’s inventory of > 60,000 qualified units available for matching within the community registry is the largest in the country, thereby providing highest chances (>97%) of finding a suitably matched unit

  Free search for matching stem cells within LifeCell Community Inventory (StemMatch) & also within other registries worldwide.

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  Release for Transplant

  With Family Floater, an unlimited number of matching units are also available for withdrawal by the parents’ siblings, (even siblings who have not yet planned a family) their spouse and grown up children (>2 years), 2 years post enrolment.

  Release is subject to usage in treatment of approved indications and registered clinical trials.

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  Other Benefits

  Treatment for 82+ life-threatening disorders.

  Unlimited sample retrievals at no extra cost

  Free comprehensive pre-release testing & free worldwide shipment of matched units for transplant.

  Quality guarantee & disaster relief.

  Family Floater Tree

  Parents’ Siblings

  Their Spouses

  Their Children (>2 years)

• Why Choose Family Floater?
  It is a once in a lifetime chance for your extended family members to benefit from the opportunity of having access to a pristine and precious source of stem cells which has several advantages compared to other sources.

  Significant Need for Stem Cells

  Below is the risk of an individual being diagnosed of common blood cancers at some point in a lifetime*:

  • Leukemia: 1 in 62
  • Non-Hodgkin Lymphoma: 1 in 48
  • Myeloma: 1 in 125

  India has a high burden of inherited red cell diseases such as Thalassemia & Sickle Cell Disease (2.5 Lakh patients) where stem cell transplant is the only curative treatment option

  *As per National Cancer Institute, Surveillance, Epidemiology, and End Results Program

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  Cord is Easier to Match

  For stem cell matching there are between 6-10 parameters that need to be matched, with each parameter having between 2000-4000 variants.

  Adult bone marrow requires 9-10 parameters to be matched.

  However Umbilical Cord Blood requires only 6-8 parameters to be matched thereby making it 10-100x more easier to find a match.

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  Readily Available & No Additional Cost

  Umbilical Cord blood stem cells being frozen are 100% available and ready for immediate release. Further withdrawal of matching units from the community inventory is totally free.

  Even in advanced countries like the US about 50% of registered adult donors back out at the time of medical need. In some cases, since the donor is required to travel, there could be delays in access. Further there are significant costs in making arrangements for sourcing these cells.

  Recommended by Experts

  Community cord blood banking has the benefits of both private banking and public banking and hence is a superior option.

  No wonder it’s supported by leading medical experts unlike private banking which has been criticised- as inherited disorders make it unfit for baby’s own use & can only be withdrawn once for family use.

  Public cord blood banks in India have limited inventory and are not growing due to lack of financial aid. Further they charge upto ₹10 lakhs for releasing a matching unit.

  Increasing Success Rates with Cord Blood

  Success rates for cord blood transplants are improving with each passing year due to innovations such as:

  • Improved chemotherapy regimens that have led to lower transplant related mortality, lesser rejections, earlier patient discharge and lower complications
  • Multiplying the number of cord blood stem cells in the lab or supplementing them with other stem cell sources has shown to accelerate the time to immune recovery without increase in side effects

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  Limited Indian-Origin Donors & Units

  Representation of adult donors of Indian origin is less than 1% in global registries, and size of Indian donor registries is significantly sub-optimal (<1 Million Donors) to provide reasonable access to a matching donor

  Inventory of cord blood units within public banks in India is still very small (<10,000 units collectively)

• Treatable Conditions
  Over 50,000 stem cell transplants occur worldwide each year for treatment of 90+ conditions approved currently, and the researchers are continuing to investigate its use in several more indications.

  Inherited Blood Disorders

  Acute Myelofibrosis

  Agnogenic Myeloid Metaplasia (Myelofibrosis)

  Amyloidosis

  Aplastic Anemia (Severe)

  Beta Thalassemia Major

  Blackfan-Diamond Anemia

  Congenital Amegakaryocytic Thrombocytopenia (CAT)

  Congenital Cytopenia

  Congenital Dyserythropoietic Anemia

  Dyskeratosis Congenita

  Essential Thrombocythemia

  Fanconi Anemia

  Glanzmann’s Thrombasthenia

  Myelodysplastic Syndrome

  Paroxysmal Nocturnal Hemoglobinuria (PNH)

  Polycythemia Vera

  Pure Red Cell Aplasia

  Refractory Anemia with Excess Blasts (RAEB)

  Refractory Anemia with Excess Blasts in Transition (RAEB-T)

  Refractory Anemia with Ringed Sideroblasts (RARS)

  Shwachman-Diamond Syndrome

  Sickle Cell Disease

  Inherited Immune Disorders

  Adenosine Deaminase Deficiency (SCID)

  Bare Lymphocyte Syndrome (SCID)

  Chediak-Higashi Syndrome (SCID)

  Chronic Granulomatous Disease

  Congenital Neutropenia

  DiGeorge Syndrome

  Evans Syndrome

  Fucosidosis

  Hemophagocytic Lymphohistiocytosis (HLH)

  Hemophagocytosis Langerhans’ Cell Histiocytosis (Histiocytosis X)

  IKK Gamma Deficiency (NEMO Deficiency)

  Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) Syndrome

  Kostmann Syndrome (SCID)

  Myelokathexis

  Omenn Syndrome (SCID)

  Phosphorylase Deficiency (SCID)

  Purine Nucleoside (SCID)

  Reticular Dysgenesis (SCID)

  Severe Combined Immunodeficiency Diseases (SCID)

  Thymic Dysplasia

  Wiskott-Aldrich Syndrome

  X-linked Agammaglobulinemia

  X-Linked Hyper IgM Syndrome

  X-Linked Lymphoproliferative Disorder

  Inherited Errors in Metabolism

  Congenital Erythropoietic Porphyria (Gunther Disease)

  Gaucher Disease

  Hunter Syndrome (MPS-II)

  Hurler Syndrome (MPS-IH)

  Krabbe Disease

  Lesch-Nyhan Syndrome

  Mannosidosis

  Maroteaux-Lamy Syndrome (MPS-VI)

  Metachromatic Leukodystrophy

  Mucolipidosis II (I-cell Disease)

  Neuronal Ceroid Lipofuscinosis (Batten Disease)

  Niemann-Pick Disease

  Sandhoff Disease

  Sanfilippo Syndrome (MPS-III)

  Scheie Syndrome (MPS-IS)

  Sly Syndrome (MPS-VII)

  Tay Sachs

  Wolman Disease

  X-Linked Adrenoleukodystrophy

  Blood Cancers

  Acute Biphenotypic Leukemia

  Acute Lymphocytic Leukemia (ALL)

  Acute Myelogenous Leukemia (AML)

  Acute Undifferentiated Leukemia

  Adult T Cell Leukemia/Lymphoma

  Chronic Active Epstein Barr

  Chronic Lymphocytic Leukemia (CLL)

  Chronic Myelogenous Leukemia (CML)

  Chronic Myelomonocytic Leukemia (CMML)

  Juvenile Chronic Myelogenous Leukemia (JCML)

  Juvenile Myelomonocytic Leukemia (JMML)

  Myeloid/Natural Killer (NK) Cell

  PrecursorAcute Leukemia

  Non-Hodgkin’s Lymphoma

  Prolymphocytic Leukemia

  Leukocyte Adhesion Deficiency

  Rhabdomyosarcoma

  Thymoma (Thymic Carcinoma)

  Wilms Tumor