SAT 

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SAT Sperm Aneuploidy Test

Analysis of sperm chromosomal abnormalities.

2 independent evaluators work in every case.

Results compared with internal control to assure highest reliability.

In case of positive result, we will provide personalised guidance

What is SAT?

> SAT is a test to study the genetic factor of male infertility.

> This test evaluates the percentage of spermatozoa with chromosomal abnormalities in a sperm sample.

> Analysis is performed on the chromosomes most frequently associated with spontaneous miscarriages and children with chromosomal abnormalities (chromosomes 13, 18, 21, X and Y).

Why use SAT?

> Increases pregnancy rate.

> Decreases miscarriage risk.

> SAT helps to provide personalised genetic guidance to the couple before IVF treatment

In couples with an abnormal SAT, it is clinically advisable to perform PGT-A (Preimplantation Genetic Testing for Aneuploidies) to select chromosomally normal embryos for transfer.

Is SAT for you?

This test is recommended if:

> You’ve suffered recurrent miscarriage

> You’ve had several IVF treatments without success

> You’ve had a previous pregnancy with chromosomal aneuploidy

> You’re a man with impaired sperm parameters

NACE

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NACE Non-invasive Prenatal Test

Detects abnormalities, such as Down’s Syndrome with a simple maternal blood test.

Completely safe for both you and your baby

Test available from week 10

Highest informativeness rate in the market: we obtain results for 99.9% of the analyzed samples

What is NACE test?

NACE is a non-invasive prenatal test. This means that it is completely safe for you and your baby: a small blood sample, just like in any other routine blood analysis, is sufficient to perform the test. NACE uses the latest sequencing technology to analyse fetal DNA to detect the most common anomalies with high precision and reliability.

What does NACE detect?

NACE® detects abnormalities in chromosomes 21, 18, 13 and the most common anomalies in the sex chromosomes (X and Y).

NACE 24 Extended analyzes all 24 chromosomes and identifies microdeletions associated with 6 major genetic syndromes.

Who should use NACE?

NACE is available to all pregnant women from week 10 of pregnancy.

This test is recommended if:

> You want to enjoy a peaceful and healthy pregnancy

> You are at high risk of chromosomal alterations after your first-trimester screening

> You have a previous history of births with chromosomal abnormalities

Why use NACE?

> Non-invasive and risk-free: Analyses the most frequent chromosomal alterations with a simple blood test. Completely safe for you and your baby

> Helps to avoid unnecessary amniocentesis

> Option to report fetal sex from week 10

> Pre- and post-test personalised genetic counselling is available

WES

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WES Whole Exome Sequencing

A complete DNA test to identify mutations in over 24,000 genes related to complex genetic problems

+14.000 clinical exomes since 2015

Advanced NGS technology

Quality reporting

What are genetic diseases?

Genetic diseases are caused by mutations – changes to our genes. Mutations associated with recessive genetic disease can be present in DNA without affecting the individual – they are a carrier of the condition. 82% of individuals are carriers of at least one condition.

What is WES?

> A complete genetic test that looks for alterations in the DNA sequence within over 24,000 genes in complex genetic disorder cases.

> Examines a wider panel of genes that are responsible for the most complex health conditions.

> WES reaches the end of the line for diagnostic options, with no other tests that could be offered.

> Classifies information obtained from DNA that has over 24,000 genes.

Why use WES?

An exome sequencing study can identify:

> Numerous mutations or changes in the DNA that can result in an affected child in the patient’s family.

> The main indication of exome sequencing is to characterize an unmapped monogenic genetic disease present in a descendant, recognized as an index patient.

> The WES test aims to identify a mutation that explains the symptoms associated with a typically hereditary disease.

Is WES for you?

This test is suitable in case of:

> For any couple who wants to know the risk of transmitting hereditary genetic disorders to their children.

> Before an assisted reproductive treatment (ART) to understand the mutations in the DNA that can lead to affected child.

> For couples who have already undergone some genetic testing and is looking for the most extensive genetic tests.

> WES may find a genetic cause for your or your child’s signs and symptoms even if previous genetic testing did not.

> Individuals with genetic disorders known to have multiple associated genes, or multiple number of clinical signs and symptoms.

POC

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POC test on pregnancy remains

POC tests determine if a miscarriage was due to chromosomal abnormalities, offering options tailored to each patient’s needs.

50% of miscarriages in the first term are due to chromosomal
abnormalities

This figure rises to 60% of pregnancies resulting from assisted reproduction

Informative results
of origen fetal en el foetal origin in 86.4% of cases

What is the POC test on pregnancy remains?

The family of POC tests analyse whether the miscarriage could have been caused by a
chromosomal abnormality.

> 50% of miscarriages in the first trimester present abnormalities in the number of chromosomes (aneuploidies).

> This figure rises to 60% in cases of assisted reproductive treatment and further increases with age.

> The POC test analyses the 24 chromosomes and can identify alterations to the number of chromosomes (aneuploidies) as well as losses and gains of chromosome fragments.

> Complementary analysis of STR (Short Tandem Repeats) microsatellite markers
in the patient’s blood enables us to identify ploidy alterations (haploid, triploid,
tetraploid) and determine the origin of the tissue under study (foetal or
maternal).

Why use the POC test on pregnancy remains?

There are three different tests that are adapted to the needs of each patient.

> Chromosomal analysis of fetal remains using POC testing is very useful for determining the possible cause of pregnancy loss and providing reproductive counseling to patients.

> Fetal origin results are obtained in more than 86% of cases.

> Identifies alterations in ploidy (haploid, triploid, tetraploid).

> Determines the maternal or fetal origin of the tissue analyzed.

> Can be performed on twin pregnancies.

Who is the POC test on pregnancy remains for?

> It is recommended for couples who have suffered a miscarriage, but it is essential for couples who have experienced recurring miscarriages or couples undergoing assisted reproductive treatment.

Limitations of the POC test on pregnancy remains

> This method does not detect balanced structural chromosomal abnormalities
and might not detect the following: aneuploidy in low-level mosaicism; triploids/tetraploids; uniparental disomy; and deletions or duplications inferior to 10 Mb.

There are different methods depending on the test carried out:

PGT-SR

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PGT-SR Preimplantation Genetic Testing for Structural Rearrangements

Our most advanced test designed for couples where one or both of the partners carries a known balanced structural rearrangement in their chromosomes

Custom and validated in-house NGS technology

Proprietary Artificial
Intelligence algorithm

Detection of chromosomal imbalances ≥ 6MB with 98% accuracy

What is PGT-SR?

> The Preimplantation genetic testing for Structural Rearrangements (PGT-SR), is a test performed on embryo biopsies to screen embryos for chromosomal imbalances (extra or missing chromosome material) resulting from a parental structural rearrangement.

> In addition to screening for imbalances resulting from parental structural rearrangement, PGT-SR also detects numerical chromosome abnormalities (aneuploidies). PGT-SR would be able to detect all of the same chromosome imbalances that would be assessed by PGT-A.

What is a Balanced Structural Rearrangement?

 > A balanced structural rearrangement, such as translocation or inversion, involves a change in chromosome structure without gains or losses in chromosome material.​

> A translocation is a type of chromosomal rearrangement that occurs when genetic material is exchanged between two chromosomes. An inversion occurs when a chromosome segment is flipped within the chromosome.

> Typically, a balanced structural rearrangement does not cause health concerns in carriers. However, a carrier of a balanced rearrangement has a higher risk of producing embryos with an unbalanced structural rearrangement (gain and/or loss of chromosome segments), which may lead to infertility, failed implantation, pregnancy loss, or the birth of a child with developmental delays and multiple congenital anomalies.

> Children who inherit the balanced structural rearrangement from their carrier parent are not expected to have health concerns. ​

> PGT-SR increases the probability of selecting a chromosomally normal (without the parental chromosomal rearrangement) or balanced (with the same parental chromosomal rearrangement) embryo for transfer, thus leading to improved assisted reproduction techniques (ART) outcomes. 

Main benefits:

PGT-SR significantly reduces the likelihood of transferring an embryo with an unbalanced structural rearrangement, and therefore:

> Increases pregnancy rates per transfer:
Selecting chromosomally normal embryos can increase the rate of pregnancy after transfer.

> Reduces miscarriage rate:
The risk for chromosomal abnormalities in embryos is higher when one partner carries a balanced structural rearrangement. The risk for miscarriage is reduced if a euploid embryo is transferred.

> Increases the likelihood of having a healthy baby:
Depending on the size of the resulting imbalances and the chromosomes involved, the presence of an unbalanced structural rearrangement could result in a baby with varying degrees of intellectual disability/birth defects.

> Reduces the time and use of resources:
Increases the chances for successful transfer by selecting embryos with the highest reproductive potential, reducing the time and costs of extra transfer cycles.

Who should consider PGT-SR?

PGT-SR is indicated for any couple in which one member has been identified to carry a balanced structural rearrangement, such as a:

> Reciprocal translocation

> Inversion

> Robertsonian translocation

The presence of a structural rearrangement increases the risk of creating embryos with chromosomal imbalances.

PGT-SR may be indicated when other structural abnormalities, such as ring chromosomes, are identified in the patient. Evaluation of the karyotype by Igenomix is required.

PGT-SR Plus is our most advanced 4-in-1 genetic test that incorporates both NGS and SNP analysis to increase accuracy and confidence for embryo transfer. In addition to screening for imbalances detected by PGT-SR, PGT-SR Plus includes the following features:

Ploidy assessment

PGT-SR Plus detects haploidy and triploidy, ensuring embryos have the correct chromosome content. It also increases viable euploid embryos by identifying true diploid (2PN) embryos from 0PN, 1PN, and 2.1/3PN embryos that might otherwise be excluded.

Cohort Check – Sibling QC

Provides assurance that the tested embryos within a cohort are genetically related to each other.

Contamination

Our testing process includes measures to detect both external cell DNA and maternal cell contamination increasing the accuracy and confidence of the testing process and significantly reducing the risk of misdiagnosis.

> In order to determine whether PGT-SR can be offered, Igenomix will need to review the karyotype confirming the specific rearrangement that a member of the couple carries. The ordering provider should submit the karyotype report to Igenomix for PGT-SR case review.

> In rare cases, Igenomix may need to perform a preliminary analysis, to confirm PGT-SR is feasible. A DNA sample from the partner who carries the structural rearrangement would be required.

> Once Igenomix has completed the case review and confirmed that PGT-SR can be offered, embryo biopsy samples can be sent to Igenomix for PGT-SR analysis. Probe development is not required.

> Screening for sporadic aneuploidies is also performed to identify embryos with numerical chromosome aneuploidies not associated with the parental chromosomal rearrangement. Since general aneuploidy screening is included, separate PGT-A testing is not required.

> The MitoScore test can also be performed to identify embryos that could have a greater capacity for implantation

PGT-M

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PGT-M Preimplantation Genetic Testing for Monogenic disorders

Prevent the transmission of inherited disorders to future children and achieve a healthy pregnancy

Healthy embryos are selected to be transferred in the IVF process.

Reliable testing in an accredited UK laboratory

PGT-M detects more than 300 genetic diseases.

What is PGT-M test?

PGT-M (formerly PGD) helps significantly decrease the chance of having a child with an inherited genetic disorder by analysing embryos before transfer and identifying those that do not carry the altered, disease-causing gene.

> Identifies embryos affected with a genetic disorder before transfer

> Custom-designed test for every couple

> In-depth genetic counseling sessions available at no extra cost

> Igenomix understands that each patient and situation is unique. We always aim to adapt our testing to meet your needs.

Is PGT-M for you?

This test is recommended if:

> You already have a child affected by a monogenic disease.

> You or your partner are carriers or have been diagnosed with one of these diseases or if there is a family history of them

PGT-M is regulated by the HFEA in the UK. If you are working with a clinic in the UK, your clinical team will be able to give you guidance about these regulations and how they may affect you.

EMBRACE

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EMBRACE: Embryo Analysis of Culture Environment

The non-invasive test allows us to prioritize the transfer of embryos that are most likely to be euploid (23 pairs of chromosomes), avoiding invasive embryo biopsy.​

A non-invasive test that delivers a safer and more effective IVF treatment

Avoids the need for embryo biopsies, and therefore reduces clinic costs

Makes treatment more accessible

When going through in vitro fertilization (IVF) treatment, your doctor may highlight, perhaps because of your age or other factors, that it’s very important to choose a healthy embryo, to maximize the chance of a successful treatment.

What is the Embrace test?

> EMBRACE is a new non-invasive test that helps you and your doctor identify the best-quality embryos to prioritize for transfer during your treatment cycle.

> EMBRACE helps us to understand if your embryos have the correct number of chromosomes, which significantly increases the chance of a successful pregnancy.

> It classifies your embryos according to their chance of being healthy. The best-quality embryos will be given the highest score and prioritized for transfer.

> Our specialist laboratory team helps provide the information needed by your genetic counselor and your doctor to recommend the best treatment options for you.

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Why use EMBRACE?

> It is a non-invasive test that delivers safer and more effective IVF treatment.

> It avoids the need for embryo biopsies and therefore reduces clinic costs, making treatment more accessible.

Is the EMBRACE test for you?

> EMBRACE is for all patients who wish to increase their chances of pregnancy without using invasive procedures.

Baby Gender

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Baby Gender

With Baby Gender couples can now plan their family with the most accurate gender selection test

24-hour reporting using advanced NGS technology.

Result is 99% accurate.

CAP Accreditated.

The latest technological advances helps parents-to-be to plan their families carefully and to fulfill their dream of having a girl or a boy.

What is Baby Gender test?

> Baby Gender is a genetic study of the embryos performed during the IVF treatment.

> Will determine which embryos are chromosomally normal and their gender. The test comes with the added advantage of screening of chromosomes 21, 18, 13, X and Y.

> With this information, the couple and their clinician can decide which healthy embryos to transfer, according to the desire of the parents.

Why use Baby Gender?

> 99% accuracy in determining the gender of the embryos

> Greater chances of having a healthy pregnancy

> Increased implantation and transfer rate in IVF as most common chromosomal abnormalities are detected

> Test includes an unlimited number of embryos

 

Is Baby Gender for you?

Baby gender is recommended for couples or families that wish to know the gender of their baby and want to ensure a healthy pregnancy.

PGT-A

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PGT-A Preimplantation Genetic Testing for Aneuploidies

Helping you have a successful pregnancy and a healthy baby by selecting chromosomally normal embryos.

Higher pregnancy rates per transfer.

Results in more than 99% of cases.

More than 20 years’ experience in genetics

What is PGT-A?

PGT-A (formerly called PGS) is a genetic test performed on embryos to identify numerical chromosomal abnormalities (aneuploidy). This test is a genetic study of the embryo produced during IVF treatment and can help you have a healthy baby.

Who should use PGT-A?

PGT-A is especially recommended for patients with:

> Advanced maternal age: 35 years old and above

> Recurrent miscarriages: couples who have had two or more miscarriages

> IVF failures: two or more IVF failures

> Male factor infertility: a low quantity and/or quality of sperm

Why use PGT-A?

> Reduced miscarriage rates.

> Higher pregnancy rates per transfer.

> Fewer cycles of IVF treatment are needed – reducing both the time and financial cost

> Greater chance of having a healthy child.

> Fewer wasted transfers (implantation failure).

> Optional Single Embryo Transfer (SET).

> Fewer ‘wasted’ transfers with aneuploid embryos that could never lead to a successful pregnancy

> Optional Single Embryo Transfer (SET) to significantly reduce the likelihood of a multiple-gestation pregnancy

ALICE

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ALICE Analysis of Infectious Chronic Endometritis

Detects the bacteria causing chronic endometritis to improve your reproductive success

20% of infertility is caused by the endometrial factor.

Endometritis causes endometrial inflammation, with no visible symptoms in most cases.

Chronic endometritis affects up to 30% of infertile patients.

Many IVF cycles result in implantation failure, with the transferring of good-quality embryos. Although a good-quality embryo is the best starting point, the embryo also needs to be transferred to a receptive endometrium.

What is the endometrium?

> Endometrium is a tissue lining the interior of the uterus where the embryo implants and resides during pregnancy.

> Each month the endometrium prepares for the arrival of an embryo. When this does not occur, menstruation begins.

> A healthy endometrium is rich in healthy bacteria: the endometrial flora. 

 

 

Why does the endometrium matter?

Problems with the endometrial lining are one of the leading causes of infertility in women.

What is Chronic Endometritis?

Chronic Endometritis is a persistent inflammation of the endometrial lining caused by the infection of the uterine cavity mainly by bacterial pathogens that cannot be identified using conventional methods.

What is ALICE Test?

ALICE (Analysis of Infectious Chronic Endometritis) detects the bacteria causing chronic endometritis and recommends adequate treatment.

Why use ALICE?

ALICE provides accurate information, leading to a successful treatment, improving the patient’s reproductive outcome

> If ALICE test is positive, the report will focus on the detection of the specific bacteria causing the condition.

> A recommendation of the most appropriate antibiotic is made based on the bacteria detected.

Is ALICE for you?

This test is recommended if:

> ALICE is an alternative for women with infertility or who have suffered recurrent implantation failure or repeat abortion, to promote reproductive success.

> You are undergoing assisted reproduction treatment