FAMILY TRIO STUDY

Be able to diagnose your child's condition

FAMILIAL [OR INDIVIDUAL] STUDIES

FOR THE DIAGNOSIS OF GENETIC DISEASES

FAMILY-TRIO
logo trio study

For PARENTS & CHILDREN

Analysis of >4.100 genes y >5.500 conditions:

  • Autosomal dominant
  • Autosomal recessive
  • X-linked diseases
  • Non inherited: de novo
  • Preventive or Diagnostic

Resultados en 6 - 8 weeks

ORDER
CHILD-DX
logo ces

INDIVIDUAL

Analysis of your child's DNA alone

  • Variable number of genes
  • Variable number of conditions:
    • Autosomal dominant
    • Autosomal recessive
    • X-linked diseases
  • Inherited or de novo

Results in 6 - 8 weeks

ORDER

WHY DOING A FAMILY TRIO STUDY?

Today, there are about 8,000 known rare diseases, and more than 5,500 of them have a genetic origin and can be transmitted to our children. It is estimated that there are about 30 million people in the European Union and nearly 300 million people globally with one of these conditions.

Almost 3,200 of these genetic diseases are recessive, that is, they can be passed on to our offspring without us manifesting them. Diseases such as cystic fibrosis, sickle cell anemia, fragile X syndrome, phenylketonuria, or spinal muscular atrophy. Moreover, ~ 2,200 are dominant diseases, which can be inherited from an affected parent or can present de novo only in your child.

About 1 in 100 babies are born with a genetic dominant or recessive condition. These rare diseases are collectively more common and more -or equally- severe than other disorders like Down syndrome (1 in 700 babies), and their presentation do not depend on the parent's age.

WHAT ARE THE BENEFITS OF THE STUDY?

Find the answers you are looking for
  • ⇩  Reduce the time of diagnostic odyssey (usually 5 to 10 years).
  • ⇩  Reduce mortality in certain diseases
  • ⇨  Apply more effective personalized treatments
  • ⇧  Increase the chances of treatment success
  • ⇩  Reduce complications and sequelae of the disease
  • ⇧  Significantly improve the quality of life of the family
happy kid

HOW DOES THE STUDY WORK?

The study begins with the extraction of DNA from your saliva samples. Next, all the protein-coding regions of your genes (exons), which represent ~1% of the genome, are captured and read (sequenced) simultaneously in a process known as Whole Exome Sequencing (WES).

The information obtained from your complete exomes will be decoded to detect if your child carries disease-causing mutations, whether inherited or de novo. These mutations cause a reduced or absent function of the corresponding protein and the consequent development of pathology.

chromosomes, genes, proteins

The study identifies mutations in more than 4,100 genes that cause ~5,500 rare diseases. These include serious illnesses, most of them pediatric, such as neurodevelopmental, cardiovascular, musculoskeletal, dermatological, or multisystemic disorders, metabolic syndromes, severe combined immunodeficiencies, etc. Ask us for the complete list here.

HOW ARE GENETIC DISEASES INHERITED?

Our DNA is like 2 almost identical copies of a 23-chapter book. We get one copy from our mother and one from our father, and each chapter (chromosome) contains hundreds or thousands of sentences (genes). With the exception of the last chapter, which is different in men (they carry one Y chromosome and one X chrom.) and women (2 almost identical copies of the X chrom.).

The advantage of having 2 almost identical copies (alleles) of each chromosome, and therefore of each gene, is that our body can function correctly with only one copy, in the case of many genes. That is why we all carry mutated alleles of genes associated with recessive diseases without developing or manifesting symptoms. However, in genes associated with dominant diseases, both copies must be functional.

In autosomal dominant diseases (A), if one of the parents carries a mutated copy of a gene, the parent will be affected and their children will have a 50% chance of inheriting that mutated copy and developing illness. In X-linked dominant diseases (B) in which the mother carries the mutated gene, there is a 50% chance that her daughters will develop the disease. If the father is a carrier, only his daughters will be affected.

In autosomal recessive diseases (C), if both parents carry a mutated copy of the same gene (in one of the 22 pairs of non-sex chromosomes) their children will have a 25% chance of inheriting both mutated copies and therefore develop disease. In recessive X-linked diseases (D), male children of carrier mothers will have a 50% probability of suffering disease; while girls who inherit the mutated allele will be usually asymptomatic carriers. However, due to the process known as X chromosome inactivation, it could occur that only the mutated copy of the gene is active and therefore lead to the development of disease.

figure showing mode of transmission in autosomal and x-linked recessive diseases