Short Description

NGS genetic DNA test detecets for variant and mutation detection in HGD gene for Alkaptonuria

PreTest Information

Clinical History of Patient who is going for HGD Gene Alkaptonuria NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Alkaptonuria

Detail Description

HGD Gene Alkaptonuria NGS Genetic DNA Test

Alkaptonuria is a rare genetic disorder that occurs due to a deficiency in the HGD gene. This gene is responsible for producing an enzyme that breaks down homogentisic acid (HGA), which is a waste product produced during the metabolism of certain amino acids. When the HGD gene is faulty, HGA accumulates in the body, leading to a condition called alkaptonuria.

Alkaptonuria is an autosomal recessive disorder, which means that it only occurs when both parents carry a faulty copy of the HGD gene. Individuals with alkaptonuria have urine that turns black when exposed to air, due to the presence of HGA. Other symptoms of the condition include joint pain and stiffness, particularly in the spine, and the discoloration of connective tissues.

Diagnosis

Diagnosis of alkaptonuria is usually based on a combination of clinical symptoms and laboratory tests. The presence of black urine is a typical sign of the condition, and a urine test can confirm the presence of HGA. Blood tests may also be performed to measure the levels of HGA in the blood.

In some cases, genetic testing may be used to confirm a diagnosis of alkaptonuria. This involves analyzing a sample of an individual's DNA for faults in the HGD gene. Next-generation sequencing (NGS) is a powerful technique that can be used to sequence multiple genes simultaneously, making it a highly efficient method of genetic testing.

NGS Genetic DNA Test

The NGS genetic DNA test for alkaptonuria involves analyzing a sample of an individual's DNA for faults in the HGD gene. This test is highly accurate and can detect even small mutations in the gene. It is a non-invasive test that involves taking a sample of blood or saliva, which is then sent to a laboratory for analysis.

The cost of the NGS genetic DNA test for alkaptonuria is INR 20,000. This may vary depending on the laboratory and location of the test. However, it is important to note that genetic testing for alkaptonuria is not usually covered by insurance, so individuals may need to pay for the test out of pocket.

Conclusion

Alkaptonuria is a rare genetic disorder that can cause a range of symptoms, including joint pain, stiffness, and black urine. Diagnosis of the condition is usually based on a combination of clinical symptoms and laboratory tests, including genetic testing for faults in the HGD gene. The NGS genetic DNA test is a highly accurate and efficient method of genetic testing, but it may be expensive for individuals to pay for out of pocket.

If you suspect that you or a loved one may have alkaptonuria, it is important to speak to a healthcare professional for further advice and guidance.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for HGD Gene Alkaptonuria NGS Genetic DNA Test