Fragile X (FMR1) CGG Repeat Analysis Test in Vizag
Test determines CGG repeats in the FMR1 gene to diagnose Fragile X syndrome. Test uses TP-PCR/Capillary Electrophoresis. Methylation analysis is used to distinguish between premutation and full mutation alleles.
This test is done to diagnose Fragile X syndrome.
This test is offered to children with development delays, learning disabilities, social & behavioural disorders.
Test determines CGG repeats in the FMR1 gene to diagnose Fragile X syndrome (FXS). Triplet repeat primed PCR (TP-PCR) is used to detect presence or absence of pathogenically expanded allele and hence determines Premutation (Carrier state) and Full mutation (Affected) in the individual.
The FMR1 gene makes a protein called FMRP which is needed for brain development and due to the genetic defect the protein is not produced resulting in development delay, learning, social & behavioural disorders in child.
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Frequently Asked Questions
Yes our laboratory is accredited by the NABL (National Accreditation Board of Testing and Calibration of Laboratories) India & College of American Pathologists (CAP). This accreditation process is carried out every 2 years for NABL & annually for CAP with periodic internal audits carried out twice in a year. All our aforementioned tests are accredited by NABL & CAP.
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We collect samples from home between 7 AM to 11 PM (in Mumbai) and 7 AM to 9 PM in other cities. we offer Blood collection service on Sunday’s as well.
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