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Overview

Minagene's NIPT Advanced utilizes massively parallel next-generation sequencing and advanced bioinformatics to perform comprehensive non-invasive prenatal testing via analysis of cell-free fetal-derived circulating cell-free DNA from maternal peripheral blood. Beyond conventional NIPT, it facilitates multi-dimensional genomic profiling
to enable detection of both common and rare autosomal aneuploidies, unbalanced chromosomal rearrangements, and pathogenic copy number variants.

Methodology

Unique molecular identifier-based

Unique molecular identifier-based sequencing of circulating cfDNA at ≥30X depth of coverage allows for whole-genome haplotype construction and improved variant resolution. Proprietary algorithms leveraging Bayesian likelihood ratios evaluated against comprehensive genome-wide genotype and phenotype databases achieve precise risk estimation for aneuploidies encompassing all autosomes, sex chromosomes, mitochondrial disorders, and pathogenic CNVs ≥3Mb.

Key Highlights of Minagene's Advanced NIPT

Comprehensive Fetal Genome Analysis:

• Screens for rare autosomal aneuploidies undetected by standard NIPT


• Identifies incidental findings such as pathogenic homozygous/hemizygous CNVs


• Addresses scenarios requiring assessment of uniparental disomy or triallelic inheritance


• Provides results within a short period accompanied by genetic counseling from board-certified specialists


• Presents a safe alternative to invasive testing when abnormal ultrasound findings or elevated risk profiles warrant advanced prenatal diagnosis

When to consider Minagene’s Advanced NIPT

When to consider Minagene’s Advanced NIPT

Minagene’s NIPT Advanced Test is indicated for high-risk patients such as those with positive family histories, advanced maternal age, abnormal ultrasonography findings, history of recurrent pregnancy loss, or carrier status of translocations. It represents a definitive frontline examination when definitive diagnosis of sizable fetal genomic imbalances is imperative.

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.