The Genomics and Metabolism Laboratory Service of the Instituto Cardiovascular of the FCV performs high complexity tests focused on the diagnosis of genetic diseases from the fetal stage to the adult stage of the patient.
We work together with the treating physician, who sends the laboratory tests to obtain advice on the most pertinent study for your patient and the interpretation of the results.
We also offer genetic counseling for the patient and family once the diagnosis has been made. In FCV we provide treatment for different genetic diseases.
We have a highly qualified team for the comprehensive and humanized management of the patient with a genetic disease which includes, diagnosis, treatment, genetic counseling for the patient and his family, search for diagnostic and therapeutic options in other institutions in cases where our entity does not have the treatment service required for the patient.
CONVENTIONAL AND MOLECULAR CYTOGENETICS
Cytogenetics is one of the most widely used tools for the detection of abnormalities in the number, structure, and rearrangement of genetic material (chromosomes). It is a first-line exam that contributes to the diagnosis of congenital malformations, childhood pathologies, such as short stature, and sexual development problems. It also contributes to the evaluation of leukemic states in children and adults.
Using this technique we can make prenatal studies to know the chromosomal constitution of the fetus, and it is a study indicated in the couples that have had repeated abortions.
Cases in which this type of examination is useful:
- Malformations in the newborn.
- Congenital cardiopathies.
- Ambiguous genitalia, cryptorchidism, alterations in the development of internal and external genitalia.
- Mental retardation. Learning disorders. Behavior alterations.
- Women with short size, delayed puberty, primary or secondary amenorrhea. Alterations in the menstrual cycle.
- Men with small testicles, gynecomastia, oligospermic or azoospermic.
- Couples with sterility, infertility, repeated miscarriages.
- Couples with a history of children with malformations or diagnosed chromosomopathies, or a history of children with perinatal death of unknown cause.
- Family history of illness, due to chromosomal alterations.
- Onco Hematological alterations: (leukemias, refractory anemias, among others).
Types of Conventional Cytogenetic Tests
Types of Molecular Cytogenetic Tests - FISH
Types of Molecular Cytogenetic Tests for Leukemias - FISH
NEONATAL SCREENING FOR INHERITED METABOLIC DISEASES
The Neonatal Screening evaluates in the newborn 50 or 56 metabolic diseases of genetic origin, many of them have treatment, if the diagnosis is made at the right time (i.e. in the first days of birth), avoiding serious consequences for the baby such as Delayed Psychomotor Development, Seizures, Infections, Malnutrition, and Severe Anemia.Ideally, the test should be taken before the baby leaves the hospital and after feeding.
Newborns with a Metabolic Disease usually don't present phenotypic alterations, they are apparently healthy babies, Therefore, the suspicion of these diseases is only possible once the symptoms are present, such as seizures, vomiting, weight loss, among others, which makes the diagnosis sometimes late.
"We recommend that all newborns should have this type of test”.
Types of Neonatal Screening Tests
- NEONATAL SCREENING FOR INHERITED METABOLIC DISEASES (PANEL OF 56 DISEASES)
- NEONATAL SCREENING FOR INHERITED METABOLIC DISEASES (PANEL OF 50 DISEASES)
FCV PRENATAL STUDIES
During pregnancy, new experiences, emotions, and feelings are generated, particularly the uncertainty that leads us to ask ourselves: Is everything okay with our baby?
Prenatal Studies are tests that provide us with the opportunity to learn about our baby's health condition, which is performed during pregnancy to establish if the baby is a carrier of the most frequent genetic alterations.Types of Prenatal Studies:
FIRST TRIMESTER SCREENING
First Trimester Screening is a non-invasive screening test that combines the information obtained from the baby's ultrasound with the results of two proteins measured in the laboratory from a mother's blood sample to determine the baby's genetic risk of having alterations in his or her chromosomes.
The study allows detecting, with a sensitivity of 92%, those pregnancies whose babies have a high risk of carrying the most frequent chromosomal alterations in the live newborn, among these: Down Syndrome (Trisomy 21), Edwards Syndrome (Trisomy 18), and Patau Syndrome (Trisomy 13).
This test should be performed between 9 and 13.5 gestation weeks in all pregnant women, regardless of age or previous pregnancy or family history (Ideal Week: 12)
Blood sample: Biochemical (Pregnancy Associated Plasma Protein A (PAPP-A), Human Chorionic Gonadotropin Free B Fraction (B-HCG)
Fetal Ultrasound: Fetal ultrasound data including nuchal sonolucency are required. Must be taken by a trained professional.
Types of Tests:
SCREENING OF THE FIRST QUARTER OF GESTATION
SCREENING OF THE FIRST QUARTER OF GESTATION - Biochemical (Pregnancy Associated Plasma Protein A (PAPP-A), Human Chorionic Gonadotropin Free B Fraction (B-HCG), Placental Growth Factor (PlGF))
KARYOTYPE AND FETAL FISH
It is a diagnostic test of the genetic condition of the fetus, which requires invading the fetal environment. It can be done from Chorial Villi, Fetal Blood, and Amniotic Fluid in the week of management that the doctor considers relevant according to the case. The FISH allows a quick evaluation (48 to 72 hours) of the chromosomes that are most frequently altered:
Down Syndrome (Trisomy 21), Edwards Syndrome (Trisomy 18), Patau Syndrome (Trisomy 13), and Sex Chromosomes (XY).
Down Syndrome (Trisomy 21), Edwards Syndrome (Trisomy 18), Patau Syndrome (Trisomy 13), and Sex Chromosomes (XY).
While the culture allows analyzing the totality of the chromosomes, with results that are obtained between 10 to 15 days of taking the sample.
FISH allows the study of the main chromosomal abnormalities.
Test Types
- KARYOTYPE IN AMNIOTIC FLUID
- KARYOTYPE IN FETAL BLOOD
- AMNIOTIC LIQUID CARIOTYPE + FISH (Chromosomes 21, 13, 18 and sex)
- KARYOTYPE CORIAL VELLUSES + FISH (Chromosomes 21, 13, 18 and sexual)
- FETAL BLOOD CHARIOTYPE + FISH (Chromosomes 21, 13, 18 and sex)
GENOMIC ANALYSIS
It allows, through New Generation Sequencing (NGS), to make more accurate diagnoses by analyzing several genes in a single stage and in a shorter time. The result of this type of test requires between 3 to 4 months according to the test.
Genomic Analysis Tests Types:
EXOME
Analyzes the information contained in nearly 20,000 genes simultaneously which allows an approach to diagnosis when a genetic disease is suspected. It is recommended that this type of testing be done under the medical recommendation and with pre-and post-test genetic counseling.
Test Types:
- EXON MOLECULAR STUDY (SPECIFIC)
GENE PANELS
Contemplan is the study of a group of genes (up to 150), associated with a genetic pathology:
- Hereditary Cancer - Breast Cancer - Epilepsy - Deafness - Bone Dysplasia - Neurofibromatosis
It is recommended that this type of testing be done under the medical recommendation and with pre-and post-test genetic counseling.
Test Types:
- MOLECULAR STUDIES OF SPECIFIC GENES
COMPARATIVE GENOMIC HYBRIDIZATION (CGH) - ARRAY
This technique allows chromosomal abnormalities to be detected that, because of their size, cannot be detected by conventional cytogenetics. It scans all 46 human chromosomes in a single test by detecting deletions and duplications on a microscopic scale, which can lead to an accurate diagnosis and identification of candidate genes for further study by other techniques.
It is recommended that this type of testing be done under the medical recommendation and with pre-and post-test genetic counseling.
- MOLECULAR STUDY OF REARREGULATIONS (SPECIFIC- with interpretation)
SPECIFIC GENES STUDIES BY NEXT GENERATION SEQUENCE (NGS)
It allows the analysis of one or several genes making easier the diagnosis of rare and heterogeneous diseases, as well as the response to treatments and disease prognosis.
The study can be designed according to the patient's needs and those of their treating doctor. It is recommended that this type of test be performed under the medical recommendation and with pre-and post-test genetic counseling.
Test Types:
- MOLECULAR STUDY OF DELETIONS AND DUPLICATIONS (SPECIFIC)
- MOLECULAR STUDY OF MUTATIONS (SPECIFIC)
SAMPLE MANAGEMENT TO PRESERVE
We offer the component separation service (serum, plasma, DNA) and sample storage. This is of special interest in those cases where the patient may be at death risk, and there is uncertainty about the diagnosis or test to be performed.
This service is also offered for those cases of interest in research where it is required to store the sample for future research purposes.
To store the sample, the patient or legal representative of the patient must give his or her informed written consent.
Test Types:
- DNA EXTRACTION AND PRESERVATION FOR ONE YEAR
- EXTRACTION AND PRESERVATION OF SERUM AND PLASMA FOR ONE YEAR
- EXTRACTION AND PRESERVATION OF SERUM, PLASMA AND DNA FOR ONE YEAR
- PRESERVATION OF SAMPLES (DNA, SERUM, PLASMA, UP TO 10 CRYOVIALS) PER YEAR
- LYMPHOCYTE EXTRACTION
