Genomics Precision Diagnostic > Newborn Screening

Newborn Screening

Igenomix Newborn Screening is a comprehensive genetic test that analyzes 104 genes using NGS

Newborn Screening
Benefits
Indications

Overview

Around 3%-4% of newborns are affected by a genetic condition.
Newborn screening is a mandatory public health program that provides all newborn with testing and follow-up health care for a variety of medical conditions.
Igenomix Newborn Screening Test (IGX-NBS) is a comprehensive genetic test that analyzes 104 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 if a child is a healthy carrier of any of these disorders.

IGX-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 from day 1 to prevent intellectual and physical disabilities as well as life-threatening illnesses.
Many more disorders are detected 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:

Detect actionable rare diseases and clarify ambiguous results.
Improve prognostic utility and give a high diagnostic yield, more so in diseases with variable presentation.
Provide appropriate treatment to newborns.
Includes information for a precision medicine-based treatment.
Genomic sequencing commonly used for diagnosis of rare disorders.
Newborn screening by genetic testing can reduce the frequency of false-positive results and provide the clinician with more information regarding the initial clinical evaluation.
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 in case of a positive result.
Avoids the development of symptoms, some of which may be irreversible.
Results:
- 20 days – 3 weeks with normal heel prick test (mass spectrometry)
- 18-20 working days NBS IGX (NGS technology)

Indication

It is a screening test of genetic actionable diseases indicated for all newborns. Performed as early as the first days of life. 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.
Blood sample (saliva test pending of validation at IGX)

Criteria & Clasification

What has been included and why?

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

Diseases with high prevalence rates.
Detect diseases where you can take action to improve prognosis.
Selection of genes according to evidence-based medicine.
The benefits of screening must outweigh the risks.
A feasibility of screening for the general population at a local and national level.
Availability and access to treatment.
Educating physicians and the public.

Igenomix Newborn Screening vs current NBS

IGX-NBS incorporates all diseases from conventional newborn screening (heel prick test) as well as Recommended Uniform Screening Panel (RUSP) and more:

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
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.
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)
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
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

Genes & Diseases

Gene symbol	Disease name	Disease group	Inheritance
ABCD1	Adrenoleukodystrophy	Metabolic disorder- Fatty acid oxidation	XL
ABCD4	Methylmalonic aciduria and homocystinuria, cblJ type	Metabolic disorder- Organic acid	AR
ACAD8	Isobutyryl-CoA dehydrogenase deficiency	Metabolic disorder- Organic acid	AR
ACADM	Acyl-CoA dehydrogenase, medium chain, deficiency of	Metabolic disorder- Fatty acid oxidation	AR
ACADS	Acyl-CoA dehydrogenase, short-chain, deficiency of	Metabolic disorder- Fatty acid oxidation	AR
ACADSB	2-methylbutyrylglycinuria	Metabolic disorder- Organic acid	AR
ACADVL	VLCAD deficiency	Metabolic disorder- Fatty acid oxidation	AR
ACAT1	Alpha-methylacetoacetic aciduria	Metabolic disorder- Organic acid	AR
ADA	Severe combined immunodeficiency due to ADA deficiency	Immunodeficiency disorder	AR
ADK	Hypermethioninemia due to adenosine kinase deficiency	Metabolic disorder- Amino acid	AR
AHCY	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	Metabolic disorder- Amino acid	AR
ALDH4A1	Hyperprolinemia, type II	Metabolic disorder- Amino acid	AR
AMT	Glycine encephalopathy	Metabolic disorder- Amino acid	AR
ARG1	Argininemia	Metabolic disorder- Amino acid	AR
ASL	Argininosuccinic aciduria	Metabolic disorder- Amino acid	AR
ASS1	Citrullinemia	Metabolic disorder- Amino acid	AR
ATP7B	Wilson disease	Metabolic disorder- Copper	AR
AUH	3-methylglutaconic aciduria, type I	Metabolic disorder- Organic acid	AR
BCKDHA	Maple syrup urine disease, type Ia	Metabolic disorder- Amino acid	AR
BCKDHB	Maple syrup urine disease, type Ib	Metabolic disorder- Amino acid	AR
BTD	Biotinidase deficiency	Metabolic disorder- Amino acid	AR
CBS	Homocystinuria, B6-responsive and nonresponsive types	Metabolic disorder- Amino acid	AR
CFTR	Cystic fibrosis	Respiratory disorder	AR
CPT1A	CPT deficiency, hepatic, type IA	Metabolic disorder- Fatty acid oxidation	AR
CPT2	CPT II deficiency, lethal neonatal	Metabolic disorder- Fatty acid oxidation	AR
CTH	Cystathioninuria	Metabolic disorder- Amino acid	AR
CYP11B1	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency	Endocrine disorder	AR
CYP21A2	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency	Endocrine disorder	AR
DBT	Maple syrup urine disease, type II	Metabolic disorder- Amino acid	AR
DNAJC12	Hyperphenylalaninemia, mild, non-BH4-deficient	Metabolic disorder- Amino acid	AR
DUOX2	Thyroid dyshormonogenesis 6	Endocrine disorder	AR
DUOXA2	Thyroid dyshormonogenesis 5	Endocrine disorder	AR
ETFA	Glutaric acidemia IIA	Metabolic disorder- Organic acid	AR
ETFB	Glutaric acidemia IIB	Metabolic disorder- Organic acid	AR
ETFDH	Glutaric acidemia IIC	Metabolic disorder- Organic acid	AR
FAH	Tyrosinemia, type I	Metabolic disorder- Amino acid	AR
GAA	Glycogen storage disease II	Metabolic disorder- Glicogen storage	AR
GALE	Galactose epimerase deficiency	Metabolic disorder- Carbohydrate	AR
GALK1	Galactokinase deficiency with cataracts	Metabolic disorder- Carbohydrate	AR
GALT	Galactosemia	Metabolic disorder- Carbohydrate	AR
GCDH	Glutaric acidemia, type I	Metabolic disorder- Organic acid	AR
GCH1	Hyperphenylalaninemia, BH4-deficient, B	Metabolic disorder- Amino acid	AR
GCSH	?Glycine encephalopathy	Metabolic disorder- Amino acid	AR
GJB2	Deafness, digenic GJB2/GJB6	Auditory disorder	AR
GJB6	Deafness, digenic GJB2/GJB6	Auditory disorder	AR
GLDC	Glycine encephalopathy	Metabolic disorder- Amino acid	AR
GNMT	Glycine N-methyltransferase deficiency	Metabolic disorder- Amino acid	AR
GSS	Glutathione synthetase deficiency	Metabolic disorder- Organic acid	AR
HADH	3-hydroxyacyl-CoA dehydrogenase deficiency	Metabolic disorder- Fatty acid oxidation	AR
HADHA	LCHAD deficiency	Metabolic disorder- Fatty acid oxidation	AR
HADHB	Trifunctional protein deficiency	Metabolic disorder- Fatty acid oxidation	AR
HBB	Sickle cell anemia	Hemoglobin disorder	AR
HCFC1	Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type )	Metabolic disorder- Organic acid	XLR
HGD	Alkaptonuria	Metabolic disorder- Amino acid	AR
HLCS	Holocarboxylase synthetase deficiency	Metabolic disorder- Organic acid	AR
HMGCL	HMG-CoA lyase deficiency	Metabolic disorder- Organic acid	AR
HPD	Tyrosinemia, type III	Metabolic disorder- Amino acid	AR
HSD17B10	HSD10 mitochondrial disease	Metabolic disorder- Organic acid	XLD
IDUA	Mucopolysaccharidosis Ih/s	Metabolic disorder- Lysosomal enzime	AR
IL2RG	Severe combined immunodeficiency, X-linked	Immunodeficiency disorder	XLR
IVD	Isovaleric acidemia	Metabolic disorder- Organic acid	AR
LMBRD1	Methylmalonic aciduria and homocystinuria, cblF type	Metabolic disorder- Organic acid	AR
MAT1A	Methionine adenosyltransferase deficiency, autosomal recessive	Metabolic disorder- Amino acid	AR
MCCC1	3-Methylcrotonyl-CoA carboxylase 1 deficiency	Metabolic disorder- Organic acid	AR
MCCC2	3-Methylcrotonyl-CoA carboxylase 2, deficiency	Metabolic disorder- Organic acid	AR
MCEE	Methylmalonyl-CoA epimerase deficiency	Metabolic disorder- Organic acid	AR
MLYCD	Malonyl-CoA decarboxylase deficiency	Metabolic disorder- Organic acid	AR
MMAA	Methylmalonic aciduria, vitamin B12-responsive	Metabolic disorder- Organic acid	AR
MMAB	Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type	Metabolic disorder- Organic acid	AR
MMACHC	Methylmalonic aciduria and homocystinuria, cblC type	Metabolic disorder- Organic acid	AR
MMADHC	Methylmalonic aciduria and homocystinuria, cblD type	Metabolic disorder- Organic acid	AR
MMUT	Methylmalonic aciduria, mut(0) type	Metabolic disorder- Organic acid	AR
MTHFR	Homocystinuria due to MTHFR deficiency	Metabolic disorder- Amino acid	AR
MTR	Homocystinuria-megaloblastic anemia, cbl E type	Metabolic disorder- Amino acid	AR
MTRR	Homocystinuria due to MTHFR deficiency	Metabolic disorder- Amino acid	AR
MVK	Mevalonic aciduria	Metabolic disorder- Organic acid	AR
NADK2	?2,4-dienoyl-CoA reductase deficiency	Metabolic disorder- Fatty acid oxidation	AR
OTC	Ornithine transcarbamylase deficiency	Metabolic disorder- Amino acid	XLR
PAH	Phenylketonuria	Metabolic disorder- Amino acid	AR
PAX8	Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia	Endocrine disorder	AD
PCBD1	Hyperphenylalaninemia, BH4-deficient, D	Metabolic disorder- Amino acid	AR
PCCA	Propionic acidemia	Metabolic disorder- Organic acid	AR
PCCB	Propionic acidemia	Metabolic disorder- Organic acid	AR
PPM1K	?Maple syrup urine disease, mild variant	Metabolic disorder- Organic acid	AR
PRDX1	Methylmalonic aciduria and homocystinuria, cblC type, digenic	Metabolic disorder- Organic acid	AR
PRODH	Hyperprolinemia, type I	Metabolic disorder- Amino acid	AR
PTS	Hyperphenylalaninemia, BH4-deficient, A	Metabolic disorder- Amino acid	AR
QDPR	Hyperphenylalaninemia, BH4-deficient, C	Metabolic disorder- Amino acid	AR
RAG1	Severe combined immunodeficiency, B cell-negative	Immunodeficiency disorder	AR
RAG2	Severe combined immunodeficiency, B cell-negative	Immunodeficiency disorder	AR
SLC22A5	Carnitine deficiency, systemic primary	Metabolic disorder- Fatty acid oxidation	AR
SLC25A13	Citrullinemia, adult-onset type II	Metabolic disorder- Amino acid	AR
SLC25A20	Carnitine-acylcarnitine translocase deficiency	Metabolic disorder- Fatty acid oxidation	AR
SLC3A1	Cystinuria	Metabolic disorder- Amino acid	AR
SLC5A5	Thyroid dyshormonogenesis 1	Endocrine disorder	AR
SLC6A8	Cerebral creatine deficiency syndrome 1	Metabolic disorder- Fatty acid oxidation	XLR
SLC7A7	Lysinuric protein intolerance	Metabolic disorder- Amino acid	AR
SLC7A9	Cystinuria	Metabolic disorder- Amino acid	AR
SMN1	Spinal muscular atrophy	Neuromuscular disorder	AR
TAT	Tyrosinemia, type II	Metabolic disorder- Amino acid	AR
TG	Thyroid dyshormonogenesis 3	Endocrine disorder	AR
TPO	Thyroid dyshormonogenesis 2A	Endocrine disorder	AR
TSHB	Hypothyroidism, congenital, nongoitrous 4	Endocrine disorder	AR
TSHR	Hypothyroidism, congenital, nongoitrous, 1	Endocrine disorder	AR

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

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

Diseases with high prevalence rates

Detect diseases where you can take action to improve prognosis

Genes selected according to evidence-based medicine

Availability and access to treatment

Overview

What is the procedure?

Benefits of Using NGS/Clinical Utility

Indication

Test Limitations

What has been included and why?

Igenomix Newborn Screening vs current NBS

Relevant related studies:

FAQs

Igenomix and fertility

NACE

CGT

POC

Newborn Screening

Igenomix Newborn Screening is a comprehensive genetic test that analyzes 104 genes using NGS

Diseases with high prevalence rates

Detect diseases where you can take action to improve prognosis

Genes selected according to evidence-based medicine

Availability and access to treatment

Overview

Goals of Conventional Newborn Screening (NBS)

What is the procedure?

Benefits of Using NGS/Clinical Utility

Indication

Test Limitations

What has been included and why?

Igenomix Newborn Screening vs current NBS

Relevant related studies:

FAQs

Igenomix and fertility

Other services

NACE

CGT

POC

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