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Newborn Screening

Igenomix Newborn Screening is a genetic test that analyzes 237 genes linked to more than 200 conditions.

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Newborn Screening

Igenomix Newborn Screening is a genetic test that analyzes 237 genes linked to more than 200 conditions.

Overview

Newborn Screening
Benefits
Indications

Overview

Around 3%-4% of newborns are affected by a genetic condition.
Igenomix NBS identifies genetic disorders in newborn babies.
Newborn screening is a mandatory public health program that offers screening and follow-up medical care to all newborns for a variety of medical conditions.
Igenomix Newborn Screening Test is a comprehensive genetic test that analyzes 237 genes using Next Generation Sequencing (NGS) technologies allowing a direct approach of genetic disorders to reach a rapid, accurate diagnosis.
In addition, this test identifies a child is a healthy carrier of any of these genetic alterations.

NBS provides an extended panel of disorders analyzed with NGS based technologies offering a wider coverage than NBS done by the NHS.

These genes are responsible for developmental, genetic and metabolic disorders that cause serious health problems starting in early childhood.
The ultimate benefit is an early intervention to prevent intellectual and physical disabilities as well as life-threatening illnesses.
This test allows the detection of many more disorders than with a conventional heel prick test.

Know more

What is the procedure?

Benefits of Using NGS/Clinical Utility

IGX uses Next Generation Sequencing (NGS) technologies to perform NBS vs tandem mass spectrometry (MS-MS).

Benefits of using NGS:

High clinical utility, by detecting +200 diseases.
Detect potentially treatable genetic conditions.
Allows an early clinical intervention of the baby.
Can avoid the development of symptoms, some of which may be irreversible..
Option for additional analysis and diagnosis at any stage of life.
The addition of DNA-based testing to primary NBS allows the diagnosis of conditions that could not be previously identified with a laboratory marker, given the nature of the technologies used.
Since NGS-WES technologies are used for the analysis, the patient’s data will be saved for the option for additional analysis and diagnostics at any stage of life.
Supports reproductive decisions and family planning.
Scientific advice for doctors and genetic counselling for patients, before and after the test.
Results: 25 calendar days.

Indication

It is a screening test of genetic actionable diseases indicated for all newborns.
Early treatment is crucial to prevent complications and improve the
prognosis for newborns.

Test Limitations

Newborn screening DOES NOT replace the potential value of carrier genetic testing (CGT) nor does carrier genetic testing replace newborn screening.
Performed during the first days of life.
Bucal swab.

Criteria & Clasification

What has been included and why?

The disease included in the Newborn Screening have been selected given the following criteria:

Diseases with presentation in infancy.
Conditions with serious clinical repercussions, affecting the development of the newborn.
Potentially treatable and actionable alterations.
Genetic disorders with sufficient medical knowledge and scientific evidence.

Igenomix Newborn Screening vs current NBS

NBS test incorporates all diseases from conventional newborn screening (heel prick test).

Igenomix and fertility

We work to make a world in which infertility is no longer an impossible barrier. Together with clinics and fertility specialists worldwide, we investigate human reproduction to change the lives of those who are trying to conceive.

Learn more about Igenomix

Genes & Diseases

Gene List

The diseases included in the Igenomix NBS test can be classified in the following groups. You can find an example of a disease included in each group and its management.

Documentation

Relevant related studies:

ACOG Committee Opinion No. 778 Summary: Newborn Screening and the Role of the Obstetrician–Gynecologist. (2019). Obstetrics & Gynecology, 133(5), 1073-1074. doi: 10.1097/aog.0000000000003246

https://www.hrsa.gov/advisory-committees/heritable-disorders/rusp/index.html#:~:text=The%20RUSP%20is%20a%20list,newborn%20screening%20(NBS)%20programs

van Campen, Sollars, Thomas, Bartlett, Milano, & Parker et al. (2019). Next Generation Sequencing in Newborn Screening in the United Kingdom National Health Service. International Journal Of Neonatal Screening, 5(4), 40. doi: 10.3390/ijns5040040

Adhikari, A. N., Gallagher, R. C., Wang, Y., Currier, R. J., Amatuni, G., Bassaganyas, L., Chen, F., Kundu, K., Kvale, M., Mooney, S. D., Nussbaum, R. L., Randi, S. S., Sanford, J., Shieh, J. T., Srinivasan, R., Sunderam, U., Tang, H., Vaka, D., Zou, Y., Koenig, B. A., … Brenner, S. E. (2020). The role of exome sequencing in newborn screening for inborn errors of metabolism. Nature medicine, 26(9), 1392–1397. https://doi.org/10.1038/s41591-020-0966-5

Rajabi, F. (2018). Updates in Newborn Screening. Pediatric Annals, 47(5). doi: 10.3928/19382359-20180426-01

Wang, W., Yang, J., Xue, J., Mu, W., Zhang, X., Wu, W., Xu, M., Gong, Y., Liu, Y., Zhang, Y., Xie, X., Gu, W., Bai, J., & Cram, D. S. (2019). A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism. BMC medical genetics, 20(1), 3. https://doi.org/10.1186/s12881-018-0731-5

Waisbren, S., Bäck, D., Liu, C., Kalia, S., Ringer, S., Holm, I., & Green, R. (2014). Parents are interested in newborn genomic testing during the early postpartum period. Genetics In Medicine, 17(6), 501-504. doi: 10.1038/gim.2014.139

Pereira, S., Robinson, J. O., Gutierrez, A. M., Petersen, D. K., Hsu, R. L., Lee, C. H., Schwartz, T. S., Holm, I. A., Beggs, A. H., Green, R. C., McGuire, A. L., & BabySeq Project Group (2019). Perceived Benefits, Risks, and Utility of Newborn Genomic Sequencing in the BabySeq Project. Pediatrics, 143(Suppl 1), S6–S13. https://doi.org/10.1542/peds.2018-1099C

Overview

Newborn Screening
Benefits
Indications

Overview

Around 3%-4% of newborns are affected by a genetic condition.
Igenomix NBS identifies genetic disorders in newborn babies.
Newborn screening is a mandatory public health program that offers screening and follow-up medical care to all newborns for a variety of medical conditions.
Igenomix Newborn Screening Test is a comprehensive genetic test that analyzes 237 genes using Next Generation Sequencing (NGS) technologies allowing a direct approach of genetic disorders to reach a rapid, accurate diagnosis.
In addition, this test identifies a child is a healthy carrier of any of these genetic alterations.

NBS provides an extended panel of disorders analyzed with NGS based technologies offering a wider coverage than NBS done by the NHS.

These genes are responsible for developmental, genetic and metabolic disorders that cause serious health problems starting in early childhood.
The ultimate benefit is an early intervention to prevent intellectual and physical disabilities as well as life-threatening illnesses.
This test allows the detection of many more disorders than with a conventional heel prick test.

Know more

What is the procedure?

Benefits of Using NGS/Clinical Utility

IGX uses Next Generation Sequencing (NGS) technologies to perform NBS vs tandem mass spectrometry (MS-MS).

Benefits of using NGS:

High clinical utility, by detecting +200 diseases.
Detect potentially treatable genetic conditions.
Allows an early clinical intervention of the baby.
Can avoid the development of symptoms, some of which may be irreversible..
Option for additional analysis and diagnosis at any stage of life.
The addition of DNA-based testing to primary NBS allows the diagnosis of conditions that could not be previously identified with a laboratory marker, given the nature of the technologies used.
Since NGS-WES technologies are used for the analysis, the patient’s data will be saved for the option for additional analysis and diagnostics at any stage of life.
Supports reproductive decisions and family planning.
Scientific advice for doctors and genetic counselling for patients, before and after the test.
Results: 25 calendar days.

Indication

It is a screening test of genetic actionable diseases indicated for all newborns.
Early treatment is crucial to prevent complications and improve the
prognosis for newborns.

Test Limitations

Newborn screening DOES NOT replace the potential value of carrier genetic testing (CGT) nor does carrier genetic testing replace newborn screening.
Performed during the first days of life.
Bucal swab.

Criteria & Clasification

What has been included and why?

The disease included in the Newborn Screening have been selected given the following criteria:

Diseases with presentation in infancy.
Conditions with serious clinical repercussions, affecting the development of the newborn.
Potentially treatable and actionable alterations.
Genetic disorders with sufficient medical knowledge and scientific evidence.

Igenomix Newborn Screening vs current NBS

NBS test incorporates all diseases from conventional newborn screening (heel prick test).

Genes & Diseases

Gene List

Documentation

Clinical Sheet

Download

Brochure

Download

Gene List

Download

Report Guidelines

Download

Scientific Evidence