Neuropsychiatry

APO E Genotype


Introduction: This genetic marker is useful in the evaluation of risk for the development of Alzheimer's disease, as well as the risk of brain damage and response to treatment in patients with a probability of cerebrovascular accidents.
About the exam: The study consists in amplifying APOE gene, Apolipoprotein E
CHROMOSOMAL LOCATION: 19q13.2
The association of the allele APOE Ε4 with the disease is significant (according to the normal control of the population), specifically with the genotype E4 / E4. This genotype appears in 1% of normal population control and close to 19% in patients. Genes or alleles analized: APOE Technique used: Sanger Sample type: Whole blood (EDTA tube), 2.5 mL // Cheek swab, 3 brushes // germinal DNA, 50uL, concentration 10ng / uL Results delivered in: 10 business days In case you have any questions, get in touch.




Rett Syndrome


Introduction: Rett syndrome is a disorder in children's neurological development characterized by an initial normal evolution followed by the loss of voluntary use of the hands, characteristic movements of the hands, a delayed growth of the brain and head, difficulty walking, seizures and decreased eye contact.
About the exam: Estudio para detectar la presencia de variantes en los genes MeCP2. que codifica un proteína de unión a metil CpG y está localizado en el brazo largo del cromosoma X en Xq28. Genes or alleles analized: MECP2 Technique used: NGS Sample type: Whole blood (EDTA tube), 2.5 mL // Cheek swab, 3 brushes // germinal DNA, 50uL, concentration 10ng / uL Results delivered in: 50 business days In case you have any questions, get in touch.




X Fragile Syndrome - confirmatory study


Introduction: It is a hereditary syndrome, which causes moderate to severe mental deficiency. Its genetic cause is the expansion of trinucleotide repeats in the FMR-1 gene (located on Chromosome X). About the exam: The study detects and quantifies the repeated sequences of the triplet cytosine-guanine-guanine (CGG) in the 5 'region translated from gene 1 of fragile X mental retardation (FMR1).
The test consists of a polymerase chain reaction (PCR) of genomic DNA purified from whole blood, followed by capillary electrophoresis and the conversion of product size into the number of CGG repeats.
The use of this molecular methodology, which is superior to the traditional screening method and replaces the Southern Blot confirmatory, allows to accurately measure alleles of up to 200 CGG, as well as identify alleles with mutation complete with more than 200 CGG and detect a characteristic profile of peaks that resolves the zygosity in samples of women. Genes or alleles analized: FMR-1 Technique used: Fragments Sample type: Whole blood (EDTA tube), 2.5 mL // Mouth swab, 3 brushes // germinal DNA, 50uL, concentration 10ng / uL Results delivered in: 15 business days In case you have any questions, get in touch.




X Fragile Syndrome - screening


Introduction: It is a hereditary syndrome, which causes moderate to severe mental defi ciency. Its genetic cause is the expansion of trinucleotide repeats in the FMR-1 gene (located on Chromosome X). About the exam: This one studies the CGG triplet in the FMR1 gene. It is done by PCR. This technique has the limitation that it does not allow a count of more than 54 repetitions of CGG. Therefore, those mosaic cases that have a copy number greater than 54 can not be concluded and it is advisable to proceed to a confirmatory one that can be done by TP - PCR. Genes or alleles analized: FMR-1 Technique used: Fragments Sample type: Whole blood (EDTA tube), 2.5 mL // Mouth swab, 3 brushes // germinal DNA, 50uL, concentration 10ng / uL Results delivered in: 10 business days In case you have any questions, get in touch.




Early Alzheimer's - rearrangements


Introduction: Of all people who have Alzheimer's disease, 5 percent develop symptoms before age 65. Early onset Alzheimer's can develop symptoms between the ages of 30 and 40, but that is very rare. It is more common at 50 years old.
About the exam: Study to detect the presence of large rearrangements in the PSEN1 gene. These variants can be pathogenic. The presence of pathogenic variants in this gene is associated with early-onset Alzheimer's. This disease is autosomal dominant so it is necessary the presence of 1 pathogenic variant to confirm the molecular diagnosis of this disease.
Genes or alleles analized: PSEN1, APP Technique used: MLPA Sample type: Whole blood (EDTA tube), 2.5 mL // Cheek swab, 3 brushes // germinal DNA, 50uL, concentration 10ng / uL Results delivered in: 20 business days In case you have any questions, get in touch.




Early Alzheimer's - sequencing


Introduction: Of all people who have Alzheimer's disease, 5 percent develop symptoms before age 65. Early onset Alzheimer's can develop symptoms between the ages of 30 and 40, but that is very rare. It is more common at 50 years old.
About the exam: Study to detect the presence of variants in the genes PSEN1, PSEN2yAPP. All exonic regions of genes and border intron regions are studied. These variants may be pathogenic, non-pathogenic or of uncertain significance. The presence of pathogenic variants in one of these genes is associated with early-onset Alzheimer's. This disease is autosomal dominant so it is necessary the presence of 1 pathogenic variant to confirm the molecular diagnosis of this disease.
Genes or alleles analized: PSEN1, PSEN2, APP Technique used: NGS Sample type: Whole blood (EDTA tube), 2.5 mL // Cheek swab, 3 brushes // germinal DNA, 50uL, concentration 10ng / uL Results delivered in: 30 business days In case you have any questions, get in touch.




CACNA1C Genotype


Introduction: In the largest study of neuropsychiatric diseases, the association of the CACNA1C gene to disorders within the spectrum of autism, bipolarity, attention deficit hyperactivity, schizophrenia and depression was found (Cross-Disorder Group of the Psychiatric Genomics, 2013).
About the exam: The CACNA1C gene codes for the 1-alpha subunit of a voltage-dependent calcium channel. These channels mediate the entry of calcium ions into the cell. Polymorphisms in this gene can lead to disturbances in calcium channels, excess neuronal excitability, and excess glutamate.
Genes or alleles analized: CACNA1C Technique used: Real Time Sample type: Whole blood (EDTA tube), 2.5 mL // Cheek swab, 3 brushes // germinal DNA, 50uL, concentration 10ng / uL Results delivered in: 7 business days In case you have any questions, get in touch.




5-HTT Genotype


Introduction: The serotonin transporter (5-HTT) modulates neurotransmission by facilitating the elimination of serotonin from the synapses of serotonergic neurons, resulting in the reuptake of serotonin in the presynaptic terminal
About the exam: The 5 HTT gene is analyzed. It analyzes an insertion / deletion polymorphism of 44 bases in the promoter, which produces alleles described as long (16R) or short (14R). The short allele is dominant and generates a decrease in the concentration of the serotonin transport protein and a worse response to stressful events. While individuals homozygous for the long allele (L / L) may show response to SSRI therapy in 3 to 4 weeks, individuals with the short allele (L / C or C / C) may respond to SSRI therapy more slowly.
Genes or alleles analized: 5HTT Technique used: Fragments Sample type: Whole blood (EDTA tube), 2.5 mL // Cheek swab, 3 brushes // germinal DNA, 50uL, concentration 10ng / uL Results delivered in: 10 business days In case you have any questions, get in touch.




DRD2 Genotype


Introduction: The DRD2 gene encodes the dopamine D2 receptor, a transmembrane G protein that binds to dopamine and inhibits adenylate cyclase.
About the exam: The study is based on determining the -141C ins / del (rs1799732) polymorphism in the DRD2 gene.
Genes or alleles analized: DRD2 Technique used: Sanger Sample type: Whole blood (EDTA tube), 2.5 mL // Cheek swab, 3 brushes // germinal DNA, 50uL, concentration 10ng / uL Results delivered in: 10 business days In case you have any questions, get in touch.




DRD4 Genotype


Introduction: The dopamine D4 receptor gene (DRD4) has been analyzed for its structure, its genetic polymorphism, its protein constitution, its neuroanatomical distribution and its pharmacological response.
About the exam: The DRD4 gene has a variable number tandem repeat polymorphism (VNTR) in the third exon, which codes for the third cytoplasmic loop, each repetition corresponding to 48 base pairs, which can be repeated 2 to 11 times. The DRD4 allele with 7 repeats (7R) is associated with an increased risk of ADHD (attention deficit-hyperactivity disorder). This allele is associated with a lower affinity for dopamine receptor agonists and reduced signal transduction compared to the more common DRD4 allele that has 4 repeats (4R).
Genes or alleles analized: DRD4 Technique used: Sanger Sample type: Whole blood (EDTA tube), 2.5 mL // Cheek swab, 3 brushes // germinal DNA, 50uL, concentration 10ng / uL Results delivered in: 10 business days In case you have any questions, get in touch.




COMT Genotype


Introduction: This genetic marker is useful in the assessment of risk for the development of cognitive dysfunctions, fundamentally alterations in working memory, in healthy subjects, as well as in populations with a history of psychotic pathologies, from schizophrenia to bipolar disorder.
About the exam: This study is based on the Val158Met polymorphism of the COMT enzyme gene by PCR. Individuals with the homozygous Valina amino acid are the ones that present the greatest risk to the described alterations.
Genes or alleles analized: COMT Technique used: Sanger Sample type: Whole blood (EDTA tube), 2.5 mL // Cheek swab, 3 brushes // germinal DNA, 50uL, concentration 10ng / uL Results delivered in: 7 business days In case you have any questions, get in touch.




BDNF Genotype


Introduction: BDNF is a useful genetic marker in the study of vulnerability to stress and the development of depression, both unipolar and bipolar. Individuals with the homozygous amino acid Methionine are the subjects with the highest risk.
About the exam: This study offers the study of the Val66Met polymorphism of the BDNF neurotrophin gene by means of molecular biology techniques.
Genes or alleles analized: BDNF Technique used: Sanger Sample type: Whole blood (EDTA tube), 2.5 mL // Cheek swab, 3 brushes // germinal DNA, 50uL, concentration 10ng / uL Results delivered in: 7 business days In case you have any questions, get in touch.





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