Beta Thalassemia | Fanconi Anemia
Osteopetrosis | Exostoses
Wilms Tumor | Retinoblastoma
Aortic Aneurysms | Cardiomyopathies
Hypothyroidism | Adrenal hyperplasia
Severe combined immunodeficiency | Chronic granulomatous disease
Polycystic kidney disease | Hyperoxaluria
Krabbe disease | Mucopolysaccharidosis Type III
Muscular dystrophy | Nemaline Myopathy
Neurofibromatosis Type I | Autism spectrum disorder
Sensorineural Hearing Loss | Optic atrophy Type 1
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.
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.
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.
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 954 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.
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.
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 3000+ genes that can be queried if the baby develops symptoms that can't be explained by the 954 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.
GenomeScope Newborn collects data on 4000+ genes & analyzes 954 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.
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 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.
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:
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.
Enroll for GenomeScope Newborn test along with BabyCord or book a standalone test online.
A trained paramedic collects the blood sample either via heel-prick or through the cord blood soon after the baby’s birth.
Receive Digital Results
Within 21 days, you’ll receive the results and useful insights on your personalised dashboard.
- If tested positive, schedule a virtual consultation with our genetic
counsel - or to understand your results better.
- If tested negative, consult a physician for further testing. Exome re-analysis is recommended in case of future presentation of symptoms.
Customised Dashboard Experience:
Along with an interactive, user-friendly experience, we also offer you the complete screening test insight in the form of smart reports.
Empowering you with the right information, our SMART reports are:
Recommendations from Genetic Counselors
We understand the importance of receiving expert advice at the right time. That’s why we don’t just provide your test results and leave it at that. Our in-house team of genetic counselors interprets the out-of-range results and provides you with tailored advice.
NABL & CAP Certified
Our labs are NABL and CAP certified. This means they have to meet high testing standards and submit themselves to regular inspections.
Privacy & Confidentiality
Your privacy is our priority. We use state-of-the-art technology to ensure your data is stored securely, and under no circumstance do we ever sell your data.
All our test reports are reviewed & approved by board-certified geneticists and genetic counselors.
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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.
The GenomeScope Newborn test identifies such genetic conditions before any signs or symptoms manifest. Insights from the test can enable timely intervention that paves the way for proactive healthcare decisions as well as an informed future.
A genetic test is the only possible way to detect the risk of your baby suffering from a genetic condition. These statistics throw light on the fact that rare genetic conditions are becoming more common globally, including in India.
The term newborn screening refers to screening newborns for treatable inherited conditions soon after birth. It is a biochemical screening test that helps to screen babies for close to 50 severe-but-treatable conditions. It requires additional confirmation via genetics, which may require an extra sample and more time, causing interim anxiety.
Also, missed diagnosis may lead to overall increased poorer outcomes. GenomeScope Newborn, on the other hand, is an advanced genomic test that offers a broader view of conditions that may not be identifiable by blood biochemistry.
Rare genetic conditions have become a common public health concern in India, implying the need for effective and adequate genetic testing services. Taking this into account, in 2019, the Department of Biotechnology (DBT) launched the UMMID Initiative - The Unique Methods of Management and Treatment of Inherited Disorders. The UMMID initiative has a clear goal to establish NIDAN (National Inherited Diseases Administration) Kendras across Govt. hospitals in the country that will provide services like counseling, prenatal testing, diagnosis, and management for rare genetic conditions.
Parents can expect a mandatory pre-test genetic counseling session with our in-house genetic counselor to document the family history of genetic disorders, personal medical history, and lifestyle factors. For all clients who sign up for the GenomeScope Newborn test, the pre-and post-genetic counseling service by qualified genetic counselors will be free of cost.
The sample can be collected from the umbilical cord blood or dried blood spot by a simple heel prick. And yes, both of these sample collection techniques pose no risk to either the mother or the baby.
Dried Blood Spot or DBS is a sample collection method where a few drops of whole blood are collected by a lancet through a prick on the baby's heel and blotted & dried on filter paper.
At the client's request and upon payment of applicable fees, LifeCell would arrange for a trained phlebotomist to collect the sample (as applicable) and/or a certified service provider to transport it to LifeCell Laboratory.
Upon enrollment, you will receive an order confirmation email with the details of your plan, pricing, billing/payment mode, etc. It will have a link to get started with your pre-test counseling process and book your appointment with our genetic counselor.
In such a scenario, all fees paid by the Client to LifeCell shall be refunded after deducting a cancellation fee of ₹5,000 (INR Five Thousand only).
GenomeScope Newborn uses an advanced next-generation sequencing (NGS) technology to obtain DNA sequencing data with a detection rate of >95% and reporting accuracy of >99% (Q30).
GenomeScope Newborn collects data on 4000+ genes and boasts a reporting approach designed to maximize benefit while minimizing uncertainty. Hence, we report changes in 954 clinically relevant genes, which have strong evidence of a role in disease development and >80% probability of manifestation into disease. The remaining ~3000 genes have moderate evidence of a role in disease development and a 20-80% probability of disease manifestation. However, they can be queried in the future if a baby presents symptoms that can't be explained by the previously reported genes.
After the first year, you can request re-analysis of the genomic sequencing data for an additional fee of ₹4,000.
After the testing of the sample, all fees paid by the client to LifeCell are non-refundable.
GenomeScope Newborn identifies and reports on genetic conditions irrespective of the availability of treatment.
A negative result does not rule out the presence of a disease-causing variant as the test has a restricted gene panel specific to childhood-onset conditions. A physician may recommend further testing.
Also, it does not eliminate all chances of developing a genetic condition in the future. In case of future presentation of symptoms, Exome reanalysis 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 condition. And 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 INR 2,000.
A positive result may mean that a disease-causing mutation has been identified. As a next step, you can schedule a virtual consultation with our genetic counselor to understand the results better. Test results help physicians move towards timely intervention & management of a condition. It also allows planning for the possible treatment options specific to the baby's unique health care needs.
Yes! A certified genetic counselor shall be available to talk to you throughout the process at no additional cost. They will gather your information, interpret your test results, lay out all the options and treatments, and explain any risks besides answering all your questions, so you can make healthcare decisions that are right for your baby. They can help find peace of mind and reduce anxiety by providing the right information about the test results.
The genetic counselor needs to have a complete picture of your family history. Before your appointment, try to gather as much information as possible from your family members and obtain any relevant medical records. This includes:
All this is discussed in detail over a virtual consultation that lasts 30 minutes to an hour or longer.
At LifeCell, we take data privacy very seriously. We assure you that your data will not be used or shared with a third party without your explicit consent.
LifeCell will store your baby’s genomic sequencing data for 5 years after the test.
LifeCell will store your baby’s genomic sequencing data for 5 years after the test. During this time, the client may request a copy of their baby’s genomic sequencing data on a removable hard drive for a nominal fee of ₹2,000 (INR Two Thousand only).
LifeCell shall retain the DNA isolated from the sample and the DNA remaining after testing for a minimum of two years after issuance of the final test result. However, we cannot make any claim that the preserved DNA will be available or that the DNA, if available, will be appropriate or guarantee results for future tests.
Clients may request LifeCell to delete the genomic sequencing data. However, once LifeCell deletes this data from cloud storage, no copies will be kept for future recovery. Deletion of the client's genomic sequencing data is final and permanent. LifeCell strongly encourages the client to request a copy of their genomic sequencing data before requesting to destroy the data. LifeCell shall delete the genomic sequencing data within five days of such a confirmed request.
No, we will only use it if the client gives written consent to us! The client may give consent to allow the child’s sample to be used for medical research and/or education, as long as privacy is maintained.
Refusal to permit the use of the sample for research will not affect the client’s test results. LifeCell assures that it will not sell clients’ data to a third party. Clients can withdraw their consent at any time by contacting LifeCell.
Within 21 days, you'll receive the results on your registered email address as well as on your personalized dashboard.
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