Prenatal & Neonatal Testing

Comprehensive Genetic Testing for Your Family's Health

Bioscience Institute offers a complete portfolio of genetic tests designed to provide essential information throughout the pregnancy journey and in the first days of a newborn’s life. Our testing solutions help parents and healthcare providers make informed decisions for the health of both mother and child.

From non-invasive prenatal testing (NIPT) that safely screens for chromosomal conditions during pregnancy, to carrier screening that identifies inherited disease risks before conception or during early pregnancy, to comprehensive newborn screening that detects treatable conditions in the first days of life: our tests support future parents through every relevant stage of their new life journey.

All our genetic tests utilize state-of-the-art technologies including cell-free DNA analysis, next-generation sequencing (NGS), and tandem mass spectrometry, ensuring the highest accuracy and reliability for your peace of mind.

Three Categories of Genetic Testing

Our preconception, prenatal and neonatal testing portfolio addresses different stages and needs in reproductive health.

Carrier Screening

Identifies if parents carry genetic mutations for inherited diseases that could be passed to their children, ideally performed before or during early pregnancy.

NIPT – Prenatal Testing

Non-Invasive Prenatal Testing analyzes cell-free fetal DNA in maternal blood to screen for chromosomal abnormalities from week 10 of pregnancy.

Neonatal Screening

Expanded newborn screening detects metabolic, endocrine, and genetic conditions in the first days of life, enabling early intervention for treatable disorders.

Preconception: the Carrier Screening Test

Every individual carries several recessive genetic variants that usually have no effect on their own health. However, when both partners share a pathogenic variant in the same gene, the risk of transmitting the related disorder to their child becomes significant.

MYCARRIER

Expanded Carrier Test – Over 1,200 Genetic Conditions

MyCarrier uses Next-Generation DNA Sequencing (NGS) and advanced bioinformatics algorithms to detect mutations in more than 1,200 genes associated with over 1,200 genetic diseases.

6 Test Versions Available:

• MYCARRIER: 10+ conditions
• MYCARRIER PLUS: 170+ conditions
• MYCARRIER TOP: 1,200+ conditions
• Hemophilia A – 600: 600 variants
• Thalassemia α β – 508: 508 variants
• Fragile X Syndrome: included in all versions

Sensitivity/Specificity: >99.9%
Results: ~21 working days (30 for TOP)
Sample: Blood draw

NIPT – Non-Invasive Prenatal Testing

NIPT (Non-Invasive Prenatal Testing) analyzes cell-free fetal DNA (cfDNA) circulating in maternal blood. This small fraction of fetal genetic material allows screening for chromosomal abnormalities with high accuracy and zero risk to the pregnancy. Both our NIPT tests can be performed from week 10 of gestation with a simple maternal blood draw (~8ml).

G-TEST PRO

4 Screening Options

G-TEST PRO offers 4 levels of analysis:

Trisomies: T21, T18, T13
XY: + sex chromosome aneuploidies
Deletions: + 26 deletion syndromes
WGA: + all chromosome deletions/duplications and rare aneuploidies

Resolution: 25 million reads
Sensitivity/Specificity: >99%
Results: 5-7 working days

ULTRANIPT

5 Screening Options – Most Comprehensive NIPT

ULTRANIPT offers 5 levels of analysis:

DG: T21, T18, T13 + sex chromosomes + DiGeorge
2.0: + 92 microdeletion syndromes
WIDE: + all chromosome del/dup
OMNIPT 3.0: + 202 monogenic disorders
OMNIPT WIDE: up to 320+ abnormalities

Validation: 112,669 tests (largest clinical study)
Includes: Clinical interpretation report
Results: 5-7 working days

Expanded Neonatal Screening

The expanded metabolic screening allows for the early diagnosis of rare genetic diseases before they can cause serious harm to the child. These rare genetic diseases, mostly metabolic in nature, appear in the first days of life but are not easily diagnosable; their symptoms are rather generic and are often mistaken for those of more common illnesses. A few drops of blood from the newborn’s heel are collected onto a filter paper card and sent to the laboratory.

NEONATEST

Metabolic Screening – Up to 55 Conditions

Inherited Metabolic Diseases (MME) caused by enzyme deficiencies. Tandem-mass technology with biochemical and biomolecular techniques.

Phenylketonuria (PKU)
Congenital hypothyroidism
Cystic fibrosis
55 metabolic conditions total

Technology: Tandem Mass Spectrometry
Results: 7-14 working days

NEONATEST Plus

Extended Panel – SCID + LSDs

All NEONATEST conditions plus two additional categories upon parent request.

All 55 NEONATEST conditions
SCID (Severe Combined Immunodeficiencies)
LSD (Lysosomal Storage Diseases)
Pompe, Fabry, Gaucher, MPS I

Technology: Tandem Mass Spectrometry
Results: 7-14 working days

NEONASEQ

Genomic Screening – 260+ Diseases

DNA-based screening using NGS to detect 10,000+ genetic variants in 246 genes.

Auditory system diseases
Endocrine & metabolic diseases
Immune system diseases
Neuromuscular & blood diseases

Technology: Next-Generation Sequencing (NGS)
Results: 7-14 working days

Detailed Test Information

Click on each test to learn more about methodology, conditions screened, and clinical applications.

G-TEST PRO – Non-Invasive Prenatal Screening

Category: Non-Invasive Prenatal Testing (NIPT)
Technology: Cell-free fetal DNA (cfDNA) analysis with 25 million reads resolution
When to Test: From week 10 of pregnancy
Sample: ~8ml maternal blood

Description:
G-TEST PRO analyzes fragments of fetal DNA (cfDNA) naturally present in the mother’s bloodstream. This non-invasive test screens for chromosomal abnormalities with >99% sensitivity and specificity for the main trisomies, posing zero risk to the pregnancy.

4 Test Options Available:

TRISOMIES	Trisomy 21, 18, 13
XY	+ Sex chromosome aneuploidies (Turner, Klinefelter, Triple X, XYY)
DELETIONS	+ 26 microdeletion syndromes
WGA	+ All chromosome deletions/duplications + rare aneuploidies

Key Features:

• 25 million reads resolution for accurate analysis
• Detects up to 26 deletion syndromes
• Results in 5-7 working days
• No risk of miscarriage

Discover G-TEST PRO

ULTRANIPT – Most Comprehensive NIPT Available

Category: Non-Invasive Prenatal Testing (NIPT) – Extended Panel
Technology: Advanced cfDNA sequencing with clinical interpretation
When to Test: From week 10 of pregnancy
Sample: ~8ml maternal blood

Description:
ULTRANIPT represents the most comprehensive non-invasive prenatal screening available. Validated on 112,669 pregnancies (the largest clinical study), ULTRANIPT offers expanded detection of chromosomal abnormalities, microdeletions, and monogenic disorders. Every result includes clinical interpretation by specialists.

5 Test Options Available:

DG	T21, T18, T13 + sex chromosomes + DiGeorge syndrome (22q11.2)
2.0	+ 92 microdeletion syndromes
WIDE	+ All chromosome deletions/duplications (118+ abnormalities)
OMNIPT 3.0	+ 202 monogenic disorders
OMNIPT WIDE	Most comprehensive: up to 320+ abnormalities

Key Features:

• Largest clinical validation study worldwide (112,669 tests)
• Clinical interpretation included with every report
• Up to 202 monogenic disorders detectable
• Results in 5-7 working days

Discover ULTRANIPT

MYCARRIER – Expanded Carrier Test

Category: Carrier Screening / Preconception Genetic Testing
Technology: Next-Generation DNA Sequencing (NGS) + Sanger, MLPA, qPCR, gap-PCR confirmation
When to Test: Before conception (ideal) or during early pregnancy

Description:
MyCarrier is an Expanded Carrier Test that uses Next-Generation DNA Sequencing (NGS) and advanced bioinformatics algorithms to detect mutations in more than 1,200 genes associated with over 1,200 genetic diseases. The test offers >99.9% sensitivity and specificity. Results include clinical interpretation reviewed by Bioscience Institute’s genetics team.

6 Test Versions Available:

MYCARRIER	10+ conditions
MYCARRIER PLUS	170+ conditions
MYCARRIER TOP	1,200+ conditions
Hemophilia A – 600	600 variants analyzed
Thalassemia α β – 508	508 variants analyzed

Fragile X Syndrome analysis is always included in all versions.

Who Should Consider Testing:

• Couples planning a pregnancy or already expecting
• Individuals with increased risk for a specific hereditary condition
• Couples considering assisted reproduction or donor conception
• Those wishing to assess the risk of having an affected child

Results: ~21 working days (30 for TOP version)
Genetic counseling available upon request.

Discover MYCARRIER

NEONATEST & NEONATEST Plus – Metabolic Newborn Screening

Category: Expanded Neonatal Screening
Technology: Tandem Mass Spectrometry (MS/MS) + biochemical/biomolecular techniques
When to Test: First days of life (can be performed with mandatory newborn screening)
Sample Collection: A few drops of blood from the newborn’s heel collected onto filter paper card.

Description:
NEONATEST is an expanded neonatal screening that can help identify certain rare genetic diseases in the first days of life and promptly establish therapy before they can cause serious harm. Inherited Metabolic Diseases (MME) are caused by enzyme deficiencies – the lack of production of important enzymes or the inability to use essential substances for life.

NEONATEST – Standard Panel (55 conditions):

• Phenylketonuria (PKU)
• Congenital hypothyroidism
• Cystic fibrosis
• 55 metabolic conditions total

NEONATEST Plus – Extended Panel (all above plus):

• SCID: Severe Combined Immunodeficiencies (13+ genetic defects)
• LSD: Lysosomal Storage Diseases (Pompe, Fabry, Gaucher, MPS I)

Results: 7-14 working days
Positive/borderline findings: Family promptly contacted for confirmatory testing.

Discover NEONATEST

NEONASEQ – Genomic Newborn Screening

Category: Expanded Neonatal Screening – DNA-based
Technology: Next-Generation DNA Sequencing (NGS)
When to Test: First days/weeks of life

Description:
NEONASEQ is a genetic test for expanded neonatal screening of diseases that can affect various body systems and organs. Using next-generation DNA sequencing, it analyzes the newborn’s DNA to identify more than 260 diseases associated with 246 genes, detecting more than 10,000 genetic variants.

Categories of Diseases Screened:

• Auditory system diseases: Genetic hearing loss
• Endocrine and metabolic diseases
• Immune system diseases: SCID and other immunodeficiencies
• Neuromuscular diseases: Including SMA
• Blood diseases: Hemoglobinopathies

Key Benefits:

• Detects conditions not identifiable by metabolic screening
• Identifies specific mutations for personalized treatment
• Significantly improved prognosis with early diagnosis
• Helps reduce the impact of disease on the family

Results: 7-14 working days

Discover NEONASEQ

• ULTRANIPT
• OMNIPT
• G-TEST
• MYCARRIER
• NEONATEST
• NEONASEQ