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ANALYSIS BY MEDICAL SPECIALTIES
This is a list of the most frequent analysis from a total of more than 1500 available.
For more information about CGC, other analysis and the tests we realize please contact us at info@cgcgenetics.com.
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INFERTILITY GENETIC TESTS
Infertility is defined as the “inability of a couple to conceive or successfully complete a pregnancy, after, at least one year of regular sexual relations”.
Approximately 15% of couples are infertile and about one third of infertile women, do not know the reasons for their infertility.
Studies suggest that 10% of men and 15% of women have genetic alterations (in chromosomes and genes) related to infertility.
Taking these data into account, CGC Genetics developed a panel of genetic tests useful in monitoring and evaluating infertile couples.
With the help of a medical doctor and new available genetic tools, it is possible to determine if infertility is due to genetic causes and if it is possible to find solutions.
This new approach, utilizes the most updated molecular diagnostic technologies applied to genetic causes associated with infertility, allowing a result in a short time period with a high cost/benefit ratio.
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GENETIC TESTING FOR OBESITY
The genetic testing panel is designed to detect genetic variants associated with common obesity, allowing the genetic profile knowledge where the obesity can be an input and the answer to the different choices of treatment.
Like any other genetic susceptibility test, informed consent form the patient is required. The genetic obesity analysis is done using DNA obtained from peripheral blood. Blood can be collected in a standard EDTA blood collection tube or trough a blood spot card. There is no need for prior fasting or anyother type of preparation. Sampling can be done at any time during the day.
It is recommended to seek specialized health professionals in endocrinology and nutrition who will help you understand why the identification of a genetic variant requires long time guidance, establishing realistic objectives trough diet and adequate treatment for each case.
The results from the genetic study for obesity will be provided as a clinic report that will be evaluated and interpreted by an adequate health professional, an endocrinologist or nutritionist. These healthcare professionals can use of the information contained in the report, as well as the medical history and personal circumstances of each subject to achieve the most effective treatment.
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BABYPLUS
CGC Genetics has a panel of genetic tests with neonatal applications in order to identify common diseases in newborns, which typically are not evaluated, but are still very important and occur frequently during development. These diseases develop when variable genetic factors confer predisposition and environmental factors are present. Identification of these genetic
variables allows one to avoid the environmental factors to prevent the upcoming diseases or symptoms.
Test composition:
- Lactose intolerance (MCM6 gene)
- Fructose Intolerance (ALDOB gene)
- Celiac Disease (HLA DQ2 and DQ8)
- UV Sensitivity (MC1R gene)
- Alfa-1 Antitripsin (SERPINA1 gene)
- Hemochromatosis (HFE gene)
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PSYCHOMOTOR DEVELOPMENT DELAY
The psychomotor development delay is one of the clinically situations in which is difficult to find the etiopathogenesis. GCC Genetics has developed a new strategy based on a sequential approach, with results in one to two weeks for each stage/step:
1. KARYOTYPE
2. FRAGILE-X SYNDROME (molecular study)
3. DIAGNOSTIC PANEL FOR SUBTELOMERIC
REARRANGEMENTS
4. DIAGNOSTIC PANEL FOR COMMON MICRODELECTIONS
5. DIAGNOSTIC PANEL FOR METABOLIC DISEASES BY ARRAY CGC - 94 MUTATIONS ON 26 GENES (Pat. Pending)
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ARRAY CGH MOLECULAR DIAGNOSIS IN PEDIATRICS
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The etiology of developmental disorders has been a real challenge for professionals. Over time, different techniques have been applied in order to be able to determine the origin of the genetic alterations in as many cases as possible.
The karyotype has been the most widely used technique, finding alterations in 2 to 3% of patients. The main limitation is the low resolution. The resolution varies with the region observed between 3 and 10 million pair of bases, only allowing the identification of gross structural and numerical chromosome abnormalities. However, there are many more small changes that result in serious illness. The use of higher resolution techniques such as MLPA (Multiplex Ligation Probe Amplification) and FISH (Fluorescent in Situ Hibridization) designed to detect smaller changes in specific regions may establish the etiological diagnosis in about 1% of cases.
WHEN TO PERFORM THIS ARRAY CGH?
This test is indicated in patients with:
• Psychomotor developmental delay or cognitive impairment
• Congenital anomalies
• Autism spectrum disorders
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