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Nx Gen Sequencing Alkaptonuria Test Cost

Original price was: 5,200 د.إ.Current price is: 4,680 د.إ.

-10%

The “Nx Gen Sequencing Alkaptonuria Test” offered by DNA Labs UAE is a cutting-edge diagnostic tool designed to detect Alkaptonuria, a rare genetic disorder. This condition results from a deficiency in the enzyme homogentisate 1,2-dioxygenase, leading to the accumulation of homogentisic acid in the body. Symptoms include darkening of the urine, arthritis, heart disease, and ochronosis, the bluish-black discoloration of connective tissues.

Utilizing Next-Generation Sequencing (NGS) technology, this test provides a comprehensive analysis of the HGD gene, which is responsible for Alkaptonuria. NGS allows for the examination of the gene at a much higher resolution than traditional methods, ensuring a more accurate diagnosis. This technology can detect both known and novel mutations, making it an invaluable tool for identifying the disease.

The test is priced at 4680 AED, reflecting the sophisticated technology and the detailed analysis provided. Conducted at DNA Labs UAE, a facility known for its advanced genetic testing services, clients are assured of accurate, reliable results. This test is crucial for individuals with a family history of Alkaptonuria or those experiencing symptoms, as early detection can significantly improve the management of the condition.

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Nx GEN SEQUENCING ALKAPTONURIA Test

Cost: AED 4680.0

Symptoms and Diagnosis

Alkaptonuria is a rare genetic disorder that affects the metabolism of the amino acids phenylalanine and tyrosine. It is caused by mutations in the HGD gene, which codes for the enzyme homogentisate 1,2-dioxygenase. This enzyme is responsible for breaking down homogentisic acid, a byproduct of phenylalanine and tyrosine metabolism.

To diagnose alkaptonuria, a genetic test called next-generation sequencing (NGS) can be performed. NGS is a high-throughput DNA sequencing technology that allows for the simultaneous analysis of multiple genes. In the case of alkaptonuria, NGS can be used to sequence the HGD gene and identify any mutations or variants that may be present.

Test Details

Test Name: Nx GEN SEQUENCING ALKAPTONURIA Test

Components: HGD

Price: AED 4680.0

Sample Condition: Submit 10 mL (5 mL min.) whole blood from 2 Lavender Top (EDTA) tubes. Ship refrigerated. DO NOT FREEZE. Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory.

Report Delivery: Sample Daily by 9 am; Report 40 Working days

Method: NGS, Sanger sequencing

Test type: Inherited errors of metabolism

Doctor: Neurologist

Test Department: MOLECULAR DIAGNOSTICS

Pre Test Information

Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory.

Test Process

The NGS process involves several steps. First, DNA is extracted from a blood or saliva sample obtained from the individual being tested. The DNA is then fragmented into smaller pieces and specific adapters are added to each fragment. These adapters contain sequences that are complementary to the sequences of the NGS platform. Next, the DNA fragments are amplified using polymerase chain reaction (PCR) to create multiple copies of each fragment. The amplified fragments are then loaded onto the NGS platform, which reads the sequence of each fragment in parallel. The resulting sequence data is then analyzed using bioinformatics tools to identify any mutations or variants in the HGD gene.

Advantages of NGS

NGS offers several advantages over traditional sequencing methods. It allows for the analysis of multiple genes simultaneously, reducing the time and cost required for testing. It also has a higher sensitivity and accuracy, enabling the detection of rare or novel mutations that may not be identified using other methods.

Conclusion

NGS is a powerful tool for diagnosing alkaptonuria and other genetic disorders. By sequencing the HGD gene, it can identify mutations or variants that may be responsible for the condition. This information can then be used for accurate diagnosis, genetic counseling, and personalized treatment planning.

Test Name Nx GEN SEQUENCING ALKAPTONURIA Test
Components *HGD
Price 4680.0 AED
Sample Condition Submit 10 mL (5 mL min.) whole blood from 2 Lavender Top (EDTA) tubes. Ship refrigerated. DO NOT FREEZE. Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory.
Report Delivery Sample Daily by 9 am; Report 40 Working days
Method NGS, Sanger sequencing
Test type Inherited errors of metabolism
Doctor Neurologist
Test Department: MOLECULAR DIAGNOSTICS
Pre Test Information Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory.
Test Details

Alkaptonuria is a rare genetic disorder that affects the metabolism of the amino acids phenylalanine and tyrosine. It is caused by mutations in the HGD gene, which codes for the enzyme homogentisate 1,2-dioxygenase. This enzyme is responsible for breaking down homogentisic acid, a byproduct of phenylalanine and tyrosine metabolism.

To diagnose alkaptonuria, a genetic test called next-generation sequencing (NGS) can be performed. NGS is a high-throughput DNA sequencing technology that allows for the simultaneous analysis of multiple genes. In the case of alkaptonuria, NGS can be used to sequence the HGD gene and identify any mutations or variants that may be present.

The NGS process involves several steps. First, DNA is extracted from a blood or saliva sample obtained from the individual being tested. The DNA is then fragmented into smaller pieces and specific adapters are added to each fragment. These adapters contain sequences that are complementary to the sequences of the NGS platform.

Next, the DNA fragments are amplified using polymerase chain reaction (PCR) to create multiple copies of each fragment. The amplified fragments are then loaded onto the NGS platform, which reads the sequence of each fragment in parallel. The resulting sequence data is then analyzed using bioinformatics tools to identify any mutations or variants in the HGD gene.

NGS offers several advantages over traditional sequencing methods. It allows for the analysis of multiple genes simultaneously, reducing the time and cost required for testing. It also has a higher sensitivity and accuracy, enabling the detection of rare or novel mutations that may not be identified using other methods.

In conclusion, NGS is a powerful tool for diagnosing alkaptonuria and other genetic disorders. By sequencing the HGD gene, it can identify mutations or variants that may be responsible for the condition. This information can then be used for accurate diagnosis, genetic counseling, and personalized treatment planning.