NGS

New expanded GCT. Screening of more than 2500 genetic diseases

We have the latest technology to study and avoid the
main hereditary diseases

Preconceptional genetic studies (also called carrier studies) aim to prevent the birth of a child with recessive diseases. Recessive genetic diseases behave in such a way that individuals can be either completely healthy, carriers or affected. Affected individuals are sick and manifest the disease. […]

2020-05-05T13:54:34+02:0027 de April de 2020|0 Comments

What is embryo mosaicism?

Human beings have 46 chromosomes (23 pairs) and these chromosomes contain all the genes in the genome. Half of the 46 chromosomes come from our father and the other half come from our mother. Right from the embryo stage, humans need the number of chromosomes to be normal in order for them to develop correctly. If […]

2019-11-29T09:56:33+02:0029 de November de 2019|0 Comments

What is exome genetic testing? Types of exome genetic tests

The human genome is composed of 20,000 genes. Genes contain information for synthesising all the proteins in our bodies and these proteins carry out various biological functions. The information is contained in regions called exons and they are separated by regions called introns that do not contain any information. The complete set of exons in our genome […]

2019-10-04T09:09:31+02:004 de October de 2019|0 Comments

Can a patient know and choose their future child’s gender before embryo transfer?

It is possible to determine the gender of a future baby (embryo) before transfer takes place. In fact, this strategy has been used for many years in order to avoid the transmission of sex chromosome hereditary diseases (pre-implantation genetic diagnosis or PGD).
When the technique was in its early days, embryo analysis was carried out on day 3 of embryo development. Nowadays, it is carried out between days 5 and 7 of development (blastocyst stage). The analysis provides a simultaneous understanding of all the chromosomes in the embryo, meaning that transmission of chromosomal abnormalities can be completely eliminated. The technique has a 98% success rate. […]

2018-01-03T10:07:02+02:005 de January de 2018|0 Comments

Should embryos with chromosomal mosaicism be rejected?

When good quality embryos do not implant correctly or lead to pregnancy loss, in vitro fertilisation (IVF) does not provide us with the results we had hoped for. This is often because the embryo is a carrier of abnormal chromosomes. Fortunately, in our clinic, we have access to the very latest in embryo chromosome diagnosis techniques such as array CGH and next generation sequencing (NGS). We can use this technology to detect abnormalities in the embryo that will cause pregnancy loss or that will lead to the birth of a child with chromosomal abnormalities such as Down’s Syndrome, also known as trisomy 21. As such, we can use these techniques to select and transfer the embryos with the greatest chance of leading to the birth of healthy child. […]

2018-03-26T17:47:29+02:0025 de August de 2017|0 Comments

You can avoid passing hereditary diseases on to your children by taking the GCT (Genetic Compatibility Test)

Our Genetic Compatibility Test (GCT) based on next-generation DNA sequencing analyzes more than  600 or 2500 disorders.
For a person with an hereditary disease, eliminating the chance of passing that disease on to their children becomes a desire as well as the very best gift they could give them. Sometimes, parents don’t even know they are carriers of a disease. A person with an hereditary disease will pass it on to his or her children. Sufferers carry a heavy weight upon their shoulders because they are aware that they will pass on health issues to their children and that this will have a negative impact on their quality of life or lead to premature death. In most cases, we are carriers of one recessive disease or another, but our health is not affected by it. However, there is the possibility that we might pass that disease on to our children. […]

2020-04-22T13:48:16+02:0024 de February de 2017|0 Comments

The 600 recessive disorders detected by the Genetic Compatibility Test (GCT)

Nowadays, all couples who wish to avoid passing on genetic disorders to their children can choose to do so through a Genetic Compatibility Test (GCT), also known as Prenatal Recessive Disorder Screening.
The Instituto Bernabeu GCT is a groundbreaking analysis that uses next-generation DNA sequencing (NGS) through which we study 555 genetic mutations which cause over 600 autosomal recessive disorders in a simple blood sample.

Please see below the list of mutations analysed by the GCT we do at INSTITUTO BERNABEU:
13 new recessive diseases detected by the Genetic Compatibility Test (GCT), from 1st of  July 2020

GENE
LOCUS
DISEASE
OMIM

SERPINA1
14q32.13
Alpha-1-antitrypsin deficiency
613490

SPG7
16q24.3
Autosomal recessive spastic paraplegia type 7
607259

OCA2
15q12
Oculocutaneous albinism type 2
203200

SLC26A4
7q22.3
Autosomal recessive non-syndromic sensorineural deafness type DFNB/Pendred syndrome
274600

CLCN1
7q34
Thomsen and Becker disease
160800

TYR
11q14.3
Oculocutaneous albinism type 1A
203100

CAPN3
15q15.1
Calpain-3-related limb-girdle muscular dystrophy R1
253600

CRB1
17p13.1
Leber congenital amaurosis
204000

GALNS
16q24.3
Mucopolysaccharidosis type 4A
253000

OTOF
2p23.3
Autosomal recessive non-syndromic sensorineural deafness type DFNB
601071

SAG
2q37.1
Retinitis pigmentosa 47
613758

TMPRSS3
21q22.3
Deafness, autosomal recessive 8/10
601072

TSHR
14q31.1
Hyperthyroidism
603373

 
 
The 600 recessive disorders detected by the Genetic Compatibility Test (GCT)
[…]

2020-07-06T16:55:14+02:0025 de May de 2016|0 Comments
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