GenomeScope Newborn

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.

• If treatment exists, it helps in early diagnosis and initiation of prompt treatment, thereby allowing the baby to have a better quality of life and lowering the overall treatment costs.
• If the treatment for the disease currently does not exist, this knowledge can still be helpful. The test results help reduce the diagnostic odyssey for a baby, guide the family in preparing for the care of an ill child, and aid in future reproductive planning.

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:

• Your and your partner’s ancestry and ethnic history
• Information about current & past pregnancies
• Medical and health history, including major illnesses or chronic conditions such as heart disease and medications.
• Health history of blood relatives - including children, siblings, half-siblings and their children, parents, aunts, uncles, and grandparents.

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.