Short Description

Genetically, Rett syndrome (RTT) is caused by mutations in the gene MECP2 located on the X chromosome (which is involved in transcriptional silencing and epigenetic regulation of methylated DNA), and can arise sporadically or from germline mutations. In less than 10% of RTT cases, mutations in the genes CDKL5 or FOXG1 have also been found to resemble it. Rett syndrome is initially diagnosed by clinical observation, but the diagnosis is definitive when there is a genetic defect in the MECP2 gene.

PreTest Information

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Detail Description

RETT SYNDROME DETECTION Test cost INR:8500 symptoms diagnosis

Rett Syndrome is a rare neurological disorder that affects mainly females. It is a genetic condition that affects brain development, causing severe physical and mental disability. The disorder was first described in 1966 by an Austrian physician named Andreas Rett. The disorder is caused by a mutation in the MECP2 gene.

Symptoms of Rett Syndrome:

The symptoms of Rett Syndrome usually appear in the first two years of life. The child may develop normally during the first few months, but then the symptoms start appearing. The child may start losing previously learned skills, such as crawling or walking. The following are the symptoms of Rett Syndrome:

• Loss of speech and communication skills
• Loss of motor skills
• Difficulty with coordination and balance
• Repetitive hand movements, such as hand wringing, clapping, or tapping
• Difficulty breathing or swallowing
• Seizures

Diagnosis of Rett Syndrome:

Rett Syndrome can be diagnosed by genetic testing. A blood sample is taken from the patient and sent to a laboratory for analysis. The laboratory looks for a mutation in the MECP2 gene. If the mutation is present, the diagnosis is confirmed. The test is usually performed by a genetic counselor or a medical geneticist.

Rett Syndrome Detection Test cost:

The cost of the Rett Syndrome Detection Test in India is INR 8,500. The test is available at DNA Labs India, which is a leading genetic testing laboratory in India. The laboratory uses advanced genetic testing techniques to provide accurate and reliable results.

Conclusion:

Rett Syndrome is a rare genetic disorder that affects mainly females. It is caused by a mutation in the MECP2 gene. The symptoms usually appear in the first two years of life and include loss of speech and communication skills, loss of motor skills, difficulty with coordination and balance, repetitive hand movements, difficulty breathing or swallowing, and seizures. The disorder can be diagnosed by genetic testing, which is available at DNA Labs India for INR 8,500.

If you suspect that your child may have Rett Syndrome, it is important to get them tested as early as possible. Early diagnosis and treatment can help improve the quality of life for the child and their family.

At DNA Labs India, we provide a range of genetic testing services, including Rett Syndrome Detection Test, that can help you get the answers you need. Contact us today to learn more about our services.

Genetically, Rett syndrome (RTT) is caused by mutations in the gene MECP2 located on the X chromosome (which is involved in transcriptional silencing and epigenetic regulation of methylated DNA), and can arise sporadically or from germline mutations. In less than 10% of RTT cases, mutations in the genes CDKL5 or FOXG1 have also been found to resemble it. Rett syndrome is initially diagnosed by clinical observation, but the diagnosis is definitive when there is a genetic defect in the MECP2 gene.