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Genomics Precision Diagnostic > Newborn Screening

Newborn Screening

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

  • Technical Overview
  • Criteria & Clasification
  • Genes & Diseases
  • Documentation
  • Scientific evidence

Diseases with presentation in
infancy

Conditions with serious clinical
repercussions, affecting the
development of the newborn

POC Products of Conception

Potentially treatable
and actionable
alterations

Genetic disorders with
sufficient medical knowledge
and scientific evidence

Interested in learning more?

Request information
Or Email us at supportspain@igenomix.com
Genomics Precision Diagnostic > Newborn Screening

Newborn Screening

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

  • Technical Overview
  • Criteria & Clasification
  • Genes & Diseases
  • Documentation
  • Scientific Evidence

Diseases with presentation in
infancy

Conditions with serious clinical
repercussions, affecting the
development of the newborn

POC Products of Conception

Potentially treatable
and actionable
alterations

Genetic disorders with
sufficient medical knowledge
and scientific evidence

Interested in learning more?

Request information
Or Email us at supportspain@igenomix.com
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

Goals of Conventional Newborn Screening (NBS)

The goals of newborn screening are:

  • Decrease morbidity and mortality of actionable diseases by performing an early intervention to improve neonatal and long-term health outcomes.
  • Provide a universal health service of screening to all newborns.
  • Identifying screen-positive newborns
  • Diagnosing conditions
  • Communication with families
  • Referral to treatment centers
  • Follow up with long-term outcomes
  • Educating physicians and patients.

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).

FAQs

Opening hours, contact details, lab address...

User manual

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

Clinical Sheet

Download

Brochure

Download

Gene List

Download

Report Guidelines

Download
Scientific evidence

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

Goals of Conventional Newborn Screening (NBS)

The goals of newborn screening are:

  • Decrease morbidity and mortality of actionable diseases by performing an early intervention to improve neonatal and long-term health outcomes.
  • Provide a universal health service of screening to all newborns.
  • Identifying screen-positive newborns
  • Diagnosing conditions
  • Communication with families
  • Referral to treatment centers
  • Follow up with long-term outcomes
  • Educating physicians and patients.
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

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

 

FAQs

Opening hours, contact details, lab address...

User manual

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

Other services

WES

Analyze the entire coding sequence of a gene

More information
CGT Carrier Genetic Test

CGT

Determines the risk of having a child with a genetic disease

More information

CMA

Deletions or duplications at the chromosomal level

More information

Other services

WES

Analyze the entire coding sequence of a gene

More information
CGT Carrier Genetic Test

CGT

Determines the risk of having a child with a genetic disease

More information

CMA

Deletions or duplications at the chromosomal level

More information

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    • Healthy pregnancy
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  • Reproductive Health
    • Specialists
      • ERA
      • ERA insight Hub
      • ALICE
      • EMMA
      • EndomeTRIO
      • Infertility Panels
      • EMBRACE
      • PGT-A
      • PGT-A Plus
      • PGT-M
      • PGT-SR
      • CGT
      • NACE
      • Zenit
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