Genomics Precision Diagnostic > Newborn Screening

Newborn Screening

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

Genomics Precision Diagnostic > Newborn Screening

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).

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.

Disease Group	Disorder	Signs and Symptoms	Patient Management	Result
Metabolic	Maple Syrup Urine Disease	Characterized by poor feeding, lethargy, vomiting, a maple syrup odor in the cerumen and urine, encephalopathy and central respiratory failure if untreated.	Dietary therapy to reduce toxic metabolites and achieve plasma concentrations of missing amino acids.	Asymptomatic normal life
Metabolic	Maple Syrup Urine Disease	Characterized by poor feeding, lethargy, vomiting, a maple syrup odor in the cerumen and urine, encephalopathy and central respiratory failure if untreated.	Dietary therapy to reduce toxic metabolites and achieve plasma concentrations of missing amino acids.	Asymptomatic normal life
Immunodeficiency	Severe Combined Immunodeficiency (SCID)	Presentation due to recurrent, increasingly severe infections with opportunistic organisms and failure to thrive.	Protective measures of prophylaxis with antibiotics, antifungals, antivirals and antibody replacement	Reduce the incidence of infections, slowing the progression and improve prognosis.
Immunodeficiency	Severe Combined Immunodeficiency (SCID)	Presentation due to recurrent, increasingly severe infections with opportunistic organisms and failure to thrive.	Protective measures of prophylaxis with antibiotics, antifungals, antivirals and antibody replacement	Reduce the incidence of infections, slowing the progression and improve prognosis.
Neurology	Wilson Disease	Patients presents with abdominal pain, jaundice, hepatosplenomegaly, ascites, upper gastrointestinal bleed and mental status changes.	Early initiation of copper chelation	Reduce accumulation of copper and prevent irreversible damage.
Neurology	Wilson Disease	Patients presents with abdominal pain, jaundice, hepatosplenomegaly, ascites, upper gastrointestinal bleed and mental status changes.	Early initiation of copper chelation	Reduce accumulation of copper and prevent irreversible damage.
Pulmonology	Cystic Fibrosis	Newborns present with rectal prolapse, meconium ileus, respiratory infections, pancreatic insufficiency, failure to thrive among other symptoms	Early initiation of pulmonary therapy, nutritional therapy, antibiotic prophylaxis, vaccination, bronchodilators	Decrease the incidence of infections, maintain pulmonary function. Reduce progression and improve prognosis
Pulmonology	Cystic Fibrosis	Newborns present with rectal prolapse, meconium ileus, respiratory infections, pancreatic insufficiency, failure to thrive among other symptoms	Early initiation of pulmonary therapy, nutritional therapy, antibiotic prophylaxis, vaccination, bronchodilators	Decrease the incidence of infections, maintain pulmonary function. Reduce progression and improve prognosis
Endocrinology	Congenital hypothyroidism	Most infants are asymptomatic, those with symptoms typically present with lethargy, hoarse cry, feeding problems, constipation, myxoedema, macroglossia, among others.	Early initiation of thyroid hormone replacement (oral levothyroxine)	Prevent the development of impaired neurocognitive outcome, measured by intelligence quotient (IQ)
Endocrinology	Congenital hypothyroidism	Most infants are asymptomatic, those with symptoms typically present with lethargy, hoarse cry, feeding problems, constipation, myxoedema, macroglossia, among others.	Early initiation of thyroid hormone replacement (oral levothyroxine)	Prevent the development of impaired neurocognitive outcome, measured by intelligence quotient (IQ)
ENT	Hereditary Hearing Loss*	Infants will most likely remain asymptomatic until early childhood where the patient will have trouble understanding words, hearing consonants, avoidance of social setting etc	Early initiation of hearing aids, speech therapy and language therapy	Prevent developmental and speech delay
ENT	Hereditary Hearing Loss*	Infants will most likely remain asymptomatic until early childhood where the patient will have trouble understanding words, hearing consonants, avoidance of social setting etc	Early initiation of hearing aids, speech therapy and language therapy	Prevent developmental and speech delay
Hemoglobinopathies	Sickle cell anemia	Newborns can present with severe anemia, vaso-occlusive crisis, chronic abdominal pain, hyposplenism and infections.	Early initiation of primary prevention of acute complications, as well as hematopoietic stem cell transplantation	Prevent recurrent acute vaso-occlusive episodes and with successful hematopoietic stem cell transplantation achieve a normal asymptomatic life
Hemoglobinopathies	Sickle cell anemia	Newborns can present with severe anemia, vaso-occlusive crisis, chronic abdominal pain, hyposplenism and infections.	Early initiation of primary prevention of acute complications, as well as hematopoietic stem cell transplantation	Prevent recurrent acute vaso-occlusive episodes and with successful hematopoietic stem cell transplantation achieve a normal asymptomatic life
Neuromuscular	Spinal Muscular Atrophy	Characterized by diffuse symmetric proximal muscle weakness greater in lower than upper extremities with absent or markedly decreased deep tendon reflexes.	Early initiation of disease-modifying therapy and supportive therapy	Improve quality of life and increase survival of affected individuals
Neuromuscular	Spinal Muscular Atrophy	Characterized by diffuse symmetric proximal muscle weakness greater in lower than upper extremities with absent or markedly decreased deep tendon reflexes.	Early initiation of disease-modifying therapy and supportive therapy	Improve quality of life and increase survival of affected individuals

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

Disease Group	Disorder	Signs and Symptoms	Patient Management	Result
Metabolic	Maple Syrup Urine Disease	Characterized by poor feeding, lethargy, vomiting, a maple syrup odor in the cerumen and urine, encephalopathy and central respiratory failure if untreated.	Dietary therapy to reduce toxic metabolites and achieve plasma concentrations of missing amino acids.	Asymptomatic normal life
Metabolic	Maple Syrup Urine Disease	Characterized by poor feeding, lethargy, vomiting, a maple syrup odor in the cerumen and urine, encephalopathy and central respiratory failure if untreated.	Dietary therapy to reduce toxic metabolites and achieve plasma concentrations of missing amino acids.	Asymptomatic normal life
Immunodeficiency	Severe Combined Immunodeficiency (SCID)	Presentation due to recurrent, increasingly severe infections with opportunistic organisms and failure to thrive.	Protective measures of prophylaxis with antibiotics, antifungals, antivirals and antibody replacement	Reduce the incidence of infections, slowing the progression and improve prognosis.
Immunodeficiency	Severe Combined Immunodeficiency (SCID)	Presentation due to recurrent, increasingly severe infections with opportunistic organisms and failure to thrive.	Protective measures of prophylaxis with antibiotics, antifungals, antivirals and antibody replacement	Reduce the incidence of infections, slowing the progression and improve prognosis.
Neurology	Wilson Disease	Patients presents with abdominal pain, jaundice, hepatosplenomegaly, ascites, upper gastrointestinal bleed and mental status changes.	Early initiation of copper chelation	Reduce accumulation of copper and prevent irreversible damage.
Neurology	Wilson Disease	Patients presents with abdominal pain, jaundice, hepatosplenomegaly, ascites, upper gastrointestinal bleed and mental status changes.	Early initiation of copper chelation	Reduce accumulation of copper and prevent irreversible damage.
Pulmonology	Cystic Fibrosis	Newborns present with rectal prolapse, meconium ileus, respiratory infections, pancreatic insufficiency, failure to thrive among other symptoms	Early initiation of pulmonary therapy, nutritional therapy, antibiotic prophylaxis, vaccination, bronchodilators	Decrease the incidence of infections, maintain pulmonary function. Reduce progression and improve prognosis
Pulmonology	Cystic Fibrosis	Newborns present with rectal prolapse, meconium ileus, respiratory infections, pancreatic insufficiency, failure to thrive among other symptoms	Early initiation of pulmonary therapy, nutritional therapy, antibiotic prophylaxis, vaccination, bronchodilators	Decrease the incidence of infections, maintain pulmonary function. Reduce progression and improve prognosis
Endocrinology	Congenital hypothyroidism	Most infants are asymptomatic, those with symptoms typically present with lethargy, hoarse cry, feeding problems, constipation, myxoedema, macroglossia, among others.	Early initiation of thyroid hormone replacement (oral levothyroxine)	Prevent the development of impaired neurocognitive outcome, measured by intelligence quotient (IQ)
Endocrinology	Congenital hypothyroidism	Most infants are asymptomatic, those with symptoms typically present with lethargy, hoarse cry, feeding problems, constipation, myxoedema, macroglossia, among others.	Early initiation of thyroid hormone replacement (oral levothyroxine)	Prevent the development of impaired neurocognitive outcome, measured by intelligence quotient (IQ)
ENT	Hereditary Hearing Loss*	Infants will most likely remain asymptomatic until early childhood where the patient will have trouble understanding words, hearing consonants, avoidance of social setting etc	Early initiation of hearing aids, speech therapy and language therapy	Prevent developmental and speech delay
ENT	Hereditary Hearing Loss*	Infants will most likely remain asymptomatic until early childhood where the patient will have trouble understanding words, hearing consonants, avoidance of social setting etc	Early initiation of hearing aids, speech therapy and language therapy	Prevent developmental and speech delay
Hemoglobinopathies	Sickle cell anemia	Newborns can present with severe anemia, vaso-occlusive crisis, chronic abdominal pain, hyposplenism and infections.	Early initiation of primary prevention of acute complications, as well as hematopoietic stem cell transplantation	Prevent recurrent acute vaso-occlusive episodes and with successful hematopoietic stem cell transplantation achieve a normal asymptomatic life
Hemoglobinopathies	Sickle cell anemia	Newborns can present with severe anemia, vaso-occlusive crisis, chronic abdominal pain, hyposplenism and infections.	Early initiation of primary prevention of acute complications, as well as hematopoietic stem cell transplantation	Prevent recurrent acute vaso-occlusive episodes and with successful hematopoietic stem cell transplantation achieve a normal asymptomatic life
Neuromuscular	Spinal Muscular Atrophy	Characterized by diffuse symmetric proximal muscle weakness greater in lower than upper extremities with absent or markedly decreased deep tendon reflexes.	Early initiation of disease-modifying therapy and supportive therapy	Improve quality of life and increase survival of affected individuals
Neuromuscular	Spinal Muscular Atrophy	Characterized by diffuse symmetric proximal muscle weakness greater in lower than upper extremities with absent or markedly decreased deep tendon reflexes.	Early initiation of disease-modifying therapy and supportive therapy	Improve quality of life and increase survival of affected individuals

Documentation

Clinical Sheet

Download

Brochure

Download

Gene List

Download

Report Guidelines

Download

Scientific Evidence