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POLR1D Gene Treacher Collins Syndrome Type 2 Genetic Test Cost

Original price was: 5,600 د.إ.Current price is: 4,400 د.إ.

-21%

The POLR1D gene plays a crucial role in the genetic landscape of Treacher Collins Syndrome Type 2 (TCS2), a condition characterized by craniofacial deformities that are present from birth. This condition is part of a spectrum of disorders affecting facial bone and tissue development, leading to anomalies in the ears, eyes, cheekbones, and chin. The genetic test for POLR1D associated with Treacher Collins Syndrome Type 2 is a sophisticated diagnostic tool aimed at identifying mutations within the POLR1D gene, which are indicative of the syndrome.

Conducted at DNA Labs UAE, this genetic test is a pivotal step in diagnosing TCS2, enabling healthcare providers to offer targeted treatment and interventions. With a cost of 4400 AED, the test is accessible to those who suspect they or their family members may be affected by this genetic condition. Early diagnosis through the POLR1D gene test can significantly impact the management of the syndrome, offering insights into potential complications and guiding both surgical and non-surgical treatment plans tailored to the individual’s specific needs.

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POLR1D Gene Treacher Collins syndrome type 2 Genetic Test

Welcome to DNA Labs UAE, where we offer the POLR1D Gene Treacher Collins syndrome type 2 Genetic Test. This test is designed to identify mutations in the POLR1D gene associated with Treacher Collins syndrome type 2. Treacher Collins syndrome is a rare genetic disorder characterized by facial abnormalities, such as underdeveloped cheekbones, small jaw, and cleft palate.

Test Components

Price: 4400.0 AED

Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card

Report Delivery: 3 to 4 Weeks

Method: NGS Technology

Test Type: Dysmorphology

Doctor: Pediatrics

Test Department: Genetics

Pre Test Information

Before undergoing the POLR1D Gene Treacher Collins syndrome type 2 Genetic Test, it is important to provide the clinical history of the patient. Additionally, a genetic counseling session will be conducted to draw a pedigree chart of family members affected by Treacher Collins syndrome type 2 and the POLR1D gene.

Test Details

The POLR1D gene is associated with Treacher Collins syndrome type 2. This genetic disorder is characterized by facial abnormalities, including underdeveloped cheekbones, small jaw, and cleft palate. NGS (Next-Generation Sequencing) genetic testing is used to analyze multiple genes simultaneously, allowing for the detection of mutations or variations in the DNA sequence.

For Treacher Collins syndrome type 2, NGS genetic testing is performed to identify mutations in the POLR1D gene. This involves obtaining a DNA sample, typically through a blood sample or cheek swab, and analyzing the DNA for specific mutations or variations. The results of the test can confirm a diagnosis of Treacher Collins syndrome type 2 and provide valuable information for genetic counseling and managing the condition.

It is crucial to note that genetic testing should be conducted by a qualified healthcare professional or genetic counselor who can interpret the results and provide appropriate guidance and support.

Test Name POLR1D Gene Treacher Collins syndrome type 2 Genetic Test
Components
Price 4400.0 AED
Sample Condition Blood or Extracted DNA or One drop Blood on FTA Card
Report Delivery 3 to 4 Weeks
Method NGS Technology
Test type Dysmorphology
Doctor Pediatrics
Test Department: Genetics
Pre Test Information Clinical History of Patient who is going for POLR1D Gene Treacher Collins syndrome type 2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with POLR1D Gene Treacher Collins syndrome type 2 NGS Genetic DNA Test gene POLR1D
Test Details

The POLR1D gene is associated with Treacher Collins syndrome type 2. Treacher Collins syndrome is a rare genetic disorder characterized by facial abnormalities, such as underdeveloped cheekbones, small jaw, and cleft palate. There are three types of Treacher Collins syndrome, with type 2 being caused by mutations in the POLR1D gene.

NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously, allowing for the identification of mutations or variations in the DNA sequence. In the case of Treacher Collins syndrome type 2, NGS genetic testing can be used to detect mutations in the POLR1D gene.

This type of genetic testing involves obtaining a DNA sample, typically through a blood sample or cheek swab, and analyzing the DNA for specific mutations or variations. The results of the test can help confirm a diagnosis of Treacher Collins syndrome type 2 and provide valuable information for genetic counseling and management of the condition.

It is important to note that genetic testing should be performed by a qualified healthcare professional or genetic counselor who can interpret the results and provide appropriate guidance and support.

SKU: TEST-4419 Category:

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