Molecular karyotyping in the postnatal period
Comparative genomic hybridization in DNA array (CMA or CGH array) has been developed in recent years as the method for the elaboration of a molecular karyotype that allows the detection of genetic and chromosomal alterations responsible for more than 100 congenital syndromes that occur with the presence of malformations and / or intellectual retardation to varying degrees.
It is an analysis performed by DNA hybridization with specific probes, designed for the detection of anomalies throughout the entire genome. The design of the probes allows the analysis of any genome of interest in a single assay. The distance between the probes makes it possible to obtain a resolution of 1Mb – Mega bases (10 times greater than the conventional cytogenetic analysis), reaching 60Kb (100 times higher) in the specific regions involved in the production of congenital defects. The later complex analysis of bioinformatics identifies regions with gains and losses of genetic material and evaluates the possible clinical consequences.
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.
• 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.