Diseases

Overview

Minagene's Carrier Screening Test provides comprehensive
mutation analysis to assess reproductive carrier statuses
for autosomal recessive and X-linked genetic disorders.
As a physician, understanding your patient's risk levels
empowers informed family planning choices.

Methodology

Minagene utilizes next-generation

Minagene utilizes next-generation sequencing (NGS) and multiplex ligation-dependent probe amplification (MLPA) to comprehensively detect all known common and rare disease-causing variants. Our scientific team adheres to guidelines from the American College of Medical Genetics and Genomics (ACMG) to ensure the highest quality and most up-to-date testing standards.

Key Highlights of Minagene's Carrier Screening:

Accuracy

Minagene’s CLIA/CAP accredited and ISO 15189 certified laboratory utilizes rigorous quality control checks to ensure over 99.9% accuracy in variant identification. The combination of NGS and MLPA methods allows for comprehensive detection of all mutation types.

Interpretability

Genetic counselors generate clear, easy to understand reports highlighting clinically significant findings and residual risks. Counseling is available to help clinicians clearly communicate results and recommendations to patients.

Breadth of Coverage

With over 2000 genes included, Minagene’s Carrier Screening test has the most extensive screening panel available. It identifies variants across the widest range of autosomal recessive and X-linked conditions.

Turnaround Time

Results are prioritized to be delivered within industry-leading windows to facilitate prompt family planning decisions

Ethnicity-Agnostic

The latest sequencing and analytical technologies provide assured detection of variants in all populations for uniform screening utility worldwide.

When to consider Minagene’s Carrier Screening.

Preconception Carrier Screening

For all couples considering pregnancy, genetic testing allows identification of carrier statuses to assess recessive disease transmission risks and assist family planning.

Prenatal Diagnosis

Minagene’s carrier screening test detects variant patterns that can guide invasive prenatal testing options like amniocentesis when coupled with a previous affected family history or ultrasound findings.

Reproductive Decision-Making

Results empower couples and providers to make well-informed choices about pursuing pregnancy, using preimplantation genetic testing, or considering alternative fertility treatments and family planning strategies

Recurrence Risk Assessment

Families with a history of genetic disorders benefit from delineation of residual risk levels to budget care, support, and facilities required for an affected offspring.

Overview

Minagene's NIPT uses advanced DNA sequencing technology to screen
for common fetal aneuploidies from a simple maternal blood draw.
By analyzing cell-free DNA from the placenta in maternal plasma,
it can detect the additional or missing chromosomes that cause
conditions like Down syndrome, Edwards syndrome,
and Patau syndrome.

 

Methodology

Cell-free DNA (cfDNA)

Cell-free DNA (cfDNA), derived from both the fetus and the mother,can
be detected in maternal blood and is a valuable resource for physicians.
On average, approximately 10% of the cfDNA present in maternal blood
originates from the fetus. Next Generation Sequencing (NGS), a highly
sensitive technique utilizing millions of sequence reads per sample,
enables the identification and quantification of aneuploidies within this
complex mixture. By analyzing quantitative disparities in cfDNA within
maternal blood, physicians can differentiate between fetuses affected by
trisomy 21 (and other fetal aneuploidies) and those that are unaffected.
Minagene’s NIPT introduces a whole-genome sequencing (WGS) approach
to non-invasive prenatal testing (NIPT). Through sequencing the complete
fetal genome, this method offers physicians a comprehensive assessment
of the chromosomes. Leveraging an advanced counting technique and
state-of-the-art algorithms, Claria NIPT enables the determination of
aneuploidy risk by comparing the ratio of chromosomes of interest to
multiple reference chromosomes. With this cutting-edge technology,
physicians can enhance their ability to provide accurate and reliable
diagnostic information to expectant parents.

Key Highlights of
Minagene’s NIPT

1. Comprehensive Fetal Genome Analysis:

Unlike tests that focus only on specific trisomies, Minagene’s NIPT
screens the entire fetal genome* for a more comprehensive evaluation.

2. Exceptional Test Performance:

Achieves sensitivity and specificity of over 99.9% for Trisomy 18 ,21, and 13.
Maintains a call rate of over 99%,ensuring reliable and informative
results.

3. Minimal Test Failure Rates:

Compared to targeted approaches,Minagene’s NIPT, based on
whole-genome sequencing (WGS),demonstrates significantly lower test
failure rates.
WGS assays provide extensive datacoverage across the entire diploid
genome, reducing assay- and sample-specific biases through
analytical referencing.
This normalization process enhances sensitivity, enabling accurate
aneuploidy detection even in cases with low fetal fraction, which are
typically rejected in targeted approaches due to quality control
concerns.

NIPT

Overview

Minagene’s NIPT uses advanced DNA sequencing technology to screen for common fetal aneuploidies from a simple maternal blood draw.  By analyzing cell-free DNA from the placenta in maternal plasma, it can detect the additional or missing chromosomes that cause  conditions like Down syndrome, Edwards syndrome, and Patau syndrome.

Methodology

Cell-free DNA (cfDNA), derived from both the fetus and the mother,can  be detected in maternal blood and is a valuable resource for physicians.  On average, approximately 10% of the cfDNA present in maternal blood originates from the fetus. Next Generation Sequencing (NGS), a highly sensitive technique utilizing millions of sequence reads per sample,  enables the identification and quantification of aneuploidies within this  complex mixture. By analyzing quantitative disparities in cfDNA within  maternal blood, physicians can differentiate between fetuses affected by trisomy 21 (and other fetal aneuploidies) and those that are unaffected. Minagene’s NIPT introduces a whole-genome sequencing (WGS) approach to non-invasive prenatal testing (NIPT). Through sequencing the complete fetal genome, this method offers physicians a comprehensive assessment of the chromosomes. Leveraging an advanced counting technique and  state-of-the-art algorithms, Claria NIPT enables the determination of  aneuploidy risk by comparing the ratio of chromosomes of interest to  multiple reference chromosomes. With this cutting-edge technology, physicians can enhance their ability to provide accurate and reliable diagnostic information to expectant parents.

Key Highlights of Minagene’s NIPT

• 
  

  Comprehensive fetal genome analysis:Unlike tests that focus only on specific trisomies, Minagene’s NIPT screens the entire fetal genome* for a more comprehensive evaluation.

  
  


• 
  

  Exceptional test performance:

  
  

  Achieves sensitivity and specificity of over 99.9% for Trisomy 18 ,21, and 13. Maintains a call rate of over 99%,ensuring reliable and informative results.

  
  


• 
  

  Minimal test failure rates:

  
  

  Compared to targeted approaches,Minagene’s NIPT, based on whole-genome sequencing (WGS),demonstrates significantly lower test failure rates. WGS assays provide extensive datacoverage across the entire diploid genome, reducing assay- and sample specific biases through analytical referencing. This normalization process enhances sensitivity, enabling accurate aneuploidy detection even in cases with low fetal fraction, which are typically rejected in targeted approaches due to quality control concerns.

  
  

Diseases

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  Down Syndrome

  
  


• 
  

  Edwards syndrome

  
  


• 
  

  Patau syndrome

  
  


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  Turner syndrome

  
  


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  Cri-du-chat syndrome

  
  


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  Klinefelter Syndrome