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RETT Syndrome Deletion and Duplication Detection Test Cost

Original price was: 2,800 د.إ.Current price is: 2,100 د.إ.

-25%

The Rett Syndrome Deletion and Duplication Detection Test is a specialized diagnostic procedure offered by DNA Labs UAE, aimed at identifying genetic abnormalities associated with Rett Syndrome, a rare genetic neurological disorder. This test primarily focuses on detecting deletions or duplications in the MECP2 gene, which are common genetic alterations responsible for Rett Syndrome. The MECP2 gene plays a crucial role in the development of the nervous system and brain function, and mutations in this gene can lead to the symptoms associated with Rett Syndrome, including severe cognitive impairments, speech and motor issues, and other neurological problems.

At DNA Labs UAE, this test is conducted using advanced genetic testing techniques to provide accurate and reliable results. The test is priced at 2100 AED, reflecting the sophisticated technology and expertise required to perform the analysis. This test is essential for families seeking a diagnosis for symptoms consistent with Rett Syndrome, as it can confirm the presence of genetic mutations associated with the condition. Early detection through this test can facilitate timely intervention and management strategies to improve the quality of life for individuals affected by Rett Syndrome.

Description

RETTS Syndrome Deletion and Duplication Detection Test

Test Name: RETT Syndrome deletion and duplication detection Test

Components: EDTA Vacutainer (2ml)

Price: 2100.0 AED

Sample Condition: Peripheral blood

Report Delivery: 7-10 days

Method: MLPA

Test Type: Genetics

Doctor: Oncology

Test Department:

Pre Test Information: RETT Syndrome deletion & duplication detection can be done with a doctor’s prescription. Prescription is not applicable for surgery and pregnancy cases or people planning to travel abroad.

Test Details:

Rett Syndrome is a genetic disorder caused by a mutation in the MECP2 gene, located on the X chromosome. This mutation can result in a variety of genetic changes, including deletions and duplications of the MECP2 gene.

To detect deletions and duplications in the MECP2 gene, several techniques can be used:

Fluorescence in situ hybridization (FISH): FISH involves labeling specific DNA sequences with fluorescent probes and visualizing them under a microscope. This technique can be used to detect deletions and duplications by comparing the number of fluorescent signals in normal and affected individuals.
Multiplex ligation-dependent probe amplification (MLPA): MLPA is a molecular technique that can detect copy number variations, such as deletions and duplications. It involves hybridizing specific probes to the target DNA sequence and amplifying them using polymerase chain reaction (PCR). The amplified products are then analyzed to determine the copy number of the target sequence.
Array comparative genomic hybridization (aCGH): aCGH is a high-resolution technique that can detect chromosomal copy number variations, including deletions and duplications. It involves hybridizing patient DNA with a reference DNA on a microarray slide and comparing the signal intensities to identify copy number changes.
Next-generation sequencing (NGS): NGS technologies can also be used to detect deletions and duplications in the MECP2 gene. Whole-exome sequencing or targeted gene panel sequencing can identify copy number variations by analyzing the read depth and coverage of the target region.

It is important to note that different techniques have different sensitivities and specificities for detecting deletions and duplications. Therefore, a combination of these methods may be employed to increase the accuracy of detection. Additionally, clinical evaluation and genetic counseling should also be considered in the diagnosis of Rett Syndrome.

Test Name	RETT Syndrome deletion and duplication detection Test
Components	EDTA Vacutainer (2ml)
Price	2100.0 AED
Sample Condition	Peripheral blood
Report Delivery	7-10 days
Method	MLPA
Test type	Genetics
Doctor	Oncology
Test Department:
Pre Test Information	RETT Syndrome deletion & duplication detection can be done with a Doctors prescription. Prescription is not applicable for surgery and pregnancy cases or people planing to travel abroad.
Test Details	Rett Syndrome is a genetic disorder caused by a mutation in the MECP2 gene, located on the X chromosome. This mutation can result in a variety of genetic changes, including deletions and duplications of the MECP2 gene. To detect deletions and duplications in the MECP2 gene, several techniques can be used: 1. Fluorescence in situ hybridization (FISH): FISH involves labeling specific DNA sequences with fluorescent probes and visualizing them under a microscope. This technique can be used to detect deletions and duplications by comparing the number of fluorescent signals in normal and affected individuals. 2. Multiplex ligation-dependent probe amplification (MLPA): MLPA is a molecular technique that can detect copy number variations, such as deletions and duplications. It involves hybridizing specific probes to the target DNA sequence and amplifying them using polymerase chain reaction (PCR). The amplified products are then analyzed to determine the copy number of the target sequence. 3. Array comparative genomic hybridization (aCGH): aCGH is a high-resolution technique that can detect chromosomal copy number variations, including deletions and duplications. It involves hybridizing patient DNA with a reference DNA on a microarray slide and comparing the signal intensities to identify copy number changes. 4. Next-generation sequencing (NGS): NGS technologies can also be used to detect deletions and duplications in the MECP2 gene. Whole-exome sequencing or targeted gene panel sequencing can identify copy number variations by analyzing the read depth and coverage of the target region. It is important to note that different techniques have different sensitivities and specificities for detecting deletions and duplications. Therefore, a combination of these methods may be employed to increase the accuracy of detection. Additionally, clinical evaluation and genetic counseling should also be considered in the diagnosis of Rett Syndrome.