High resolution postnatal molecular karyotype
Genetic diseases can manifest in infants, children and even in already adult individuals. Specialized examinations can aid in the proper diagnosis for each case, making it more effective to monitor the evolution of patients’ symptoms. The CGH+SNP Array is the most indicated tool by the American Academy of Genetics for the study of children and adults with suspected genetic syndromes caused by chromosomal abnormalities, delayed neuropsychomotor development, and autism.
The comparative genomic hybridization by SNP/CGH-array is performed through the Affymetrix platform using CytoScan 750K. It is a methodology capable of identifying Copy-Number Variation (CNVs) such as microdeletions and microduplications, which are not detectable by the G-band karyotype examination, besides allowing the evaluation of large regions of loss of heterozygosity (LOH) and uniparental disomy. The result found is related to the potential clinical consequences for the patient.
It is indicated for the detection of constitutional alterations in patients with:
• Severe/moderate or mild intellectual impairment.
• Clinically recognized genetic syndromes.
• Problems of fertility, sterility or with a history of repeat abortions.
• Suspected uniparental disomy or loss of heterozygosity.
• Guaranteed from the experience of the Synlab group, the absolute European leader in laboratory diagnosis.
• Whole genome analysis in a single assay, without the need for specific assays (FISH or MLPA techniques).
• High resolution for detecting chromosomal changes, including microdeletions and microduplications.
• Results in almost 100% of cases, not counting cell culture failures.
• Simple results for interpretation, with simultaneous analysis of the presence and absence of genetic and chromosomal alterations, including 500 regions linked to changes in the early stages of development, avoiding the analysis of regions of undetermined significance.
• Genetic counseling available at no additional cost according to the needs of each client.
• Changes found searched in the most complete and updated databases (Free the data).
DOCUMENTATION – Available on Extranet for clients:
• Informed Consent.
• Clinical Questionnaire.
• Fasting is not necessary for the test.