Gynecology and obstetrics

05 Dec
Categories Cardiology, Diseases, Gynecology and obstetrics, Immunology, Oncology, speciality




Overview


Trio Exome Analysis is a powerful approach in the field of genetic diagnostics, specifically tailored to identify causal mutations for inherited diseases. This method utilizes next-generation sequencing (NGS) technology to simultaneously sequence the coding regions of all genes within a family pedigree, providing valuable insights into the genetic basis of the disease.


By analyzing the trio, consisting of the affected individual and both parents, Trio Exome Analysis can detect variants inherited from the parents that may cause recessive or dominant diseases. Additionally, it can identify de novo variants that arise in the offspring but are not present in either parent.


Methodology


Genomic DNA

Genomic DNA extracted from blood samples is subjected to NGS using an Illumina platform, capturing and sequencing the coding regions of all genes. The resulting sequence data is aligned and analyzed for sequence variants.


Key Highlights of the Test:


Key Highlights of the Test:




    • Diagnostic Odyssey Resolution: Trio analysis becomes instrumental in cases where alternative diagnostic techniques fail to confirm a diagnosis, providing a pathway to end the diagnostic odyssey.




    • Enhanced Patient Management: Trio analysis aids in better patient management and can facilitate prenatal diagnosis where applicable, empowering physicians to provide more targeted care.




    • Overcoming Clinical Heterogeneity: Trio Exome Analysis is particularly valuable in situations where definitive clinical diagnosis is challenging due to clinical heterogeneity, especially for rare congenital disorders where traditional methods fall short in identifying the causal variant.




    Trio Exome Analysis, utilizing whole exome or clinical exome sequencing, enables the simultaneous analysis of thousands of genes. This approach allows for the identification of various genetic alterations, including insertions/deletions (indels), single nucleotide variants (SNVs), and copy number variations (CNVs). Moreover, this familial analysis-based approach assists in excluding variants that do not conform to Mendelian transmission, reducing false positive calls and narrowing down potential candidate variants.




  • Compared to analyzing only the proband, the overall diagnostic yield of Trio Exome Analysis utilizing exome sequencing has shown a 5-10% increase, emphasizing its significant contribution to genetic diagnostics.




Situations Where Trio Exome Test Can Be Used:

The Trio Exome Test is recommended when an individual’s medical examination, laboratory findings, and family history suggest an underlying genetic etiology. Here are some scenarios where the test can be valuable:




  • Undiagnosed Genetic Diseases: When extensive evaluation and multiple genetic tests fail to identify the cause of a genetic disease, Trio Exome Analysis can provide valuable insights for diagnosis.




  • Medical Intervention and Treatment: Trio analysis can facilitate medical intervention, treatment planning, and personalized care based on the identified genetic variants.




  • Reproductive Planning and Recurrence Risk Assessment: Trio Exome Analysis aids in guiding reproductive planning and assessing the risk of recurrence for genetically heterogeneous diseases, where multiple genes can cause the same disease or condition.




  • Prognosis and Family History: Trio analysis also plays a role in prognosis, particularly when considering family history and its implications for disease management and treatment.




  • By leveraging Trio Exome Analysis, physicians can unlock a deeper understanding of inherited diseases, leading to improved patient care, earlier interventions, and more informed reproductive counseling.





Minagene's Trio Exome Test


Overview
Trio Exome Analysis is a powerful approach in the field of genetic diagnostics, specifically tailored to identify causal mutations for inherited diseases. This method utilizes next-generation sequencing (NGS) technology to simultaneously sequence the coding regions of all genes within a family pedigree, providing valuable insights into the genetic basis of the disease.

By analyzing the trio, consisting of the affected individual and both parents, Trio Exome Analysis can detect variants inherited from the parents that may cause recessive or dominant diseases. Additionally, it can identify de novo variants that arise in the offspring but are not present in either parent.

Methodology
Genomic DNA extracted from blood samples is subjected to NGS using an Illumina platform, capturing and sequencing the coding regions of all genes. The resulting sequence data is aligned and analyzed for sequence variants.

Key Highlights of Minagene’s NIPT


  • Diagnostic Odyssey Resolution: Trio analysis becomes instrumental in cases where alternative diagnostic techniques fail to confirm a diagnosis, providing a pathway to end the diagnostic odyssey.



  • Enhanced Patient Management: Trio analysis aids in better patient management and can facilitate prenatal diagnosis where applicable, empowering physicians to provide more targeted care.



  • Overcoming Clinical Heterogeneity: Trio Exome Analysis is particularly valuable in situations where definitive clinical diagnosis is challenging due to clinical heterogeneity, especially for rare congenital disorders where traditional methods fall short in identifying the causal variant.



  • Compared to analyzing only the proband, the overall diagnostic yield of Trio Exome Analysis utilizing exome sequencing has shown a 5-10% increase, emphasizing its significant contribution to genetic diagnostics.



  • The Trio Exome Test is recommended when an individual’s medical examination, laboratory findings, and family history suggest an underlying genetic etiology. Here are some scenarios where the test can be valuable:



  • Undiagnosed Genetic Diseases: When extensive evaluation and multiple genetic tests fail to identify the cause of a genetic disease, Trio Exome Analysis can provide valuable insights for diagnosis.



  • Medical Intervention and Treatment: Trio analysis can facilitate medical intervention, treatment planning, and personalized care based on the identified genetic variants.



  • Reproductive Planning and Recurrence Risk Assessment: Trio Exome Analysis aids in guiding reproductive planning and assessing the risk of recurrence for genetically heterogeneous diseases, where multiple genes can cause the same disease or condition.



  • Prognosis and Family History: Trio analysis also plays a role in prognosis, particularly when considering family history and its implications for disease management and treatment.



  • By leveraging Trio Exome Analysis, physicians can unlock a deeper understanding of inherited diseases, leading to improved patient care, earlier interventions, and more informed reproductive counseling.



Diseases


  • Prader-Willi Syndrome



  • Angelman Syndrome



  • Digeorge Syndrome



  • Cystic Fibrosis



  • Spinal Muscular Atrophy



  • Fragile X Syndrome



  • Beta Thalassemia



  • Sickle Cell Disease/Trait



  • Congenital Adrenal Hyperplasia



  • Alpha Thalassemia



  • Intellectual disability



  • Congenital glaucoma



  • Bardet–Biedl syndrome



  • Meckel– Gruber syndrome



  • organic acidaemia



  • lysosomal storage disorders



  • retinal dystrophies



  • Hearing loss and primary microcephaly



  • Thrombocytopenia



  • Spherocytosis



  • Hemolytic anemia



  • G6PD deficient



  • C6 deficiency



  • Aminoacylase 1 deficiency



  • Sitosterolemia 2



  • Chronic granulomatous disease


03 Dec
Categories Gynecology and obstetrics, Oncology









Methodology



BRCA gene testing


BRCA gene testing utilizes Next Generation Sequencing (NGS) based genomic DNA analysis to identify multiple harmful mutations. This comprehensive approach covers various mutations, including single nucleotide variations (SNVs), short insertions and deletions (InDels), structural variants, and copy number variations.


Mutations Covered


The test covers 100% of the BRCA1 and BRCA2 genes. It demonstrates high sensitivity and specificity in detecting SNVs and InDels, achieving an accuracy rate of 100%.


Personal history


-Breast or ovarian cancer diagnosed at a young age (premenopausal)


-Bilateral breast cancer (affecting both breasts)


-Presence of both ovarian and breast cancer


Family history


Family history


-Breast, ovarian, fallopian tube, peritoneal, prostate, or pancreatic cancer in family members


-Male family member with breast cancer


-A relative with a known deleterious mutation in BRCA1 or BRCA2 genes


-Breast cancer diagnosed below the age of 45


-Bilateral breast cancer in a family member below the age of 50


-Triple-negative breast cancer below the age of 60 with or without family history


-Two or more relatives with ovarian cancer


-Both breast and ovarian cancers in either the same woman or the same family


BRCA gene testing provides a comprehensive assessment of harmful mutations in the BRCA1 and BRCA2 genes. By identifying individuals at risk, this testing can guide medical management decisions, facilitate early detection, and improve patient outcomes.

29 Nov
Categories Diseases, Gynecology and obstetrics, Neurology, speciality









Overview


Minagene offers comprehensive preimplantation genetic testing (PGT) utilizing next-generation sequencing and advanced bioinformatics. PGT screens embryos for aneuploidies (PGT-A), monogenic disorders (PGT-M), and structural rearrangements (PGT-S) to select the most euploid, mutation-free embryos for uterine transfer.


Methodology



Blastocyst biopsy


Blastocyst biopsy on day 5 post-fertilization maximizes trophectoderm sampling without compromising development. Whole genome amplification and massively parallel sequencing precisely genotype all 24 chromosomes and interrogate pathogenic mutations at >20,000X coverage. Proprietary algorithms minimize artifacts to assure diagnostic accuracy.


Trophectoderm biopsy on day 5 maximizes both viable cell cohort and developmental synchrony for accurate results, safely avoiding risk to the inner cell mass. This enhances live birth rates better than earlier biopsies.


Why Screening is Critical


Aneuploidy is the leading


Aneuploidy is the leading cause of implantation failure and miscarriage. Without PGT, embryos transferred harbor an up to 75% risk of chromosome abnormalities undetectable by morphology alone. Screening identifies the healthiest embryos most likely to achieve live birth.


Why preimplantation genetic testing?


PGT optimizes ART


PGT optimizes ART success by selecting euploid embryos not carrying specific familial gene mutations for transfer. This alleviates repeated IVF cycles, miscarriages, termination of affected pregnancies, and liveborn offspring requiring lifelong care for genetic diseases.


Highlights of Minagene's preimplantation genetic testing (PGT)


Minagene’s PGT detects all 24 chromosome aneuploidies as well as over 1500 single gene disorders. It resolves structural variants and screens for unmatched maternal contamination with exact precision.


When to Consider Minagene’s preimplantation genetic testing (PGT)


Minagene’s preimplantation genetic



  •  Couples undergoing IVF

  •  Patients at any age who have had repeated implantation failure or recurrent pregnancy loss while undergoing IVF

  •  Women over 35 years old undergoing IVF

  •  Couples with recurrent miscarriages

  •  Positive history of chromosomal abnormalities in the family

  •  Diagnosed carriers of chromosomal aberrations

20 Nov
Categories Gynecology and obstetrics, speciality









Overview


This 150-gene NGS panel facilitates comprehensive interrogation of genetic determinants of implantation failure and embryonic lethality. Targeted multidiscipline analysis encompasses thrombophilia, endocrine, structural, and receptor mutations across imprinting loci implicated in recurrent spontaneous abortion.



Methodology



Utilizing both germline gDNA


Utilizing both germline gDNA and cfDNA from peripheral blood, our proprietary molecular inversion probe-based targeted sequencing platform achieves >1000X median coverage. Variant pathogenicity is determined by integrative evaluation against genome, transcriptome, and exome datasets using population-specific algorithms. CNV detection employs read-depth methodology.


What is product of conception testing?


POC testing refers to genetic analysis of fetal/embryonic tissue samples collected after a pregnancy loss (e.g. miscarriage). It can identify chromosomal causes like aneuploidy.


Who should undergo POC testing?


Women who experience recurrent pregnancy losses (two or more consecutive losses)


Losses at later gestational ages (>10 weeks)


Structural fetal abnormalities seen during the loss


Personal or family history suggestive of a genetic condition


How is POC done?


Fetal tissue is collected by dilation and curettage after a loss. Tissue can be sent for karyotyping via microscopy to identify numeric chromosome changes. Alternatively, chromosomal microarray analysis (CMA) allows detecting smaller submicroscopic deletions/duplications.


POC using Chromosomal Microarray (CMA)


CMA on POC samples provides a higher resolution of the fetal genome compared to karyotyping. It can detect abnormalities not seen on a karyotype that are causative in 5-10% of losses. CMA directly from tissue does not require viable cell culture.


Advantages of CMA


Detects copy number variations (CNVs) down to 100kb in size


Provides information about recurrent CNVs and parental inheritance


Helps identify chromosomal causes undetected by standard karyotyping


Informs Recurrent Pregnancy Loss (RPL) workup, counseling, and management planning


Together, POC testing provides answers for recurring losses and guidance on recurrent risk in future conceptions. CMA improves diagnostic yield over karyotyping alone.


Key Highlights of Minagene’s Recurrent Pregnancy Loss Test



  • Simultaneous assessment of maternal and fetal contributors to pregnancy wastage

  • Integrates American Society for Reproductive Medicine criteria for etiologic evaluation

  • Interrogates maternal thrombophilia, endocrine, and uterine anomalies

  • Screens fetal aneuploidies, unbalanced rearrangements, segmental imbalances

  • Informs personalized management algorithms for procreation success


When to consider Minagene’s Recurrent Pregnancy Loss Test


This test is indicated for evaluation of idiopathic recurrent pregnancy loss defined as ≥2 consecutive miscarriages and recurrent implantation failure after IVF. Elucidation of underlying genetic susceptibilities allows tailored intervention to maximize livebirth potential in subsequent gestations.

20 Nov
Categories Diseases, Gynecology and obstetrics, speciality









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.

20 Nov
Categories Diseases, Gynecology and obstetrics, speciality









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.

06 Nov
Categories Diseases, Gynecology and obstetrics, speciality




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


  • Down Syndrome



  • Edwards syndrome



  • Patau syndrome



  • Turner syndrome



  • Cri-du-chat syndrome



  • Klinefelter Syndrome