Short Description

Alkaptonuria is a rare disorder of autosomal recessive inheritance. In this condition urine turns black when exposed to air due to accumulation of Homogentisic acid (HGA). Later in life, patients develop Ochronosis, a buildup of dark pigment in connective tissues such as cartilage and skin as well as Ochronotic osteoarthropathy. HGD gene provides instructions for making an enzyme called homogentisate oxidase, which helps in the break down of amino acids phenylalanine and tyrosine. Mutations in HGD gene lead to accumulation of homogentisic acid in the body.

PreTest Information

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

Detail Description

Nx GEN SEQUENCING: ALKAPTONURIA Test cost INR:23400 symptoms diagnosis

Alkaptonuria is a rare genetic disorder that affects the body's ability to break down certain amino acids, causing a buildup of a substance called homogentisic acid. This buildup can lead to a variety of symptoms, including joint pain, stiffness, and darkening of the skin and urine. If left untreated, alkaptonuria can cause significant damage to the joints and other organs.

Symptoms of Alkaptonuria

The symptoms of alkaptonuria can vary widely from person to person, and may not appear until adulthood. Some common symptoms include:

• Joint pain and stiffness
• Darkening of the skin and urine
• Heart problems
• Kidney stones
• Eye problems

If you experience any of these symptoms, it's important to speak with your doctor right away. They may recommend genetic testing to determine if you have alkaptonuria.

Diagnosis of Alkaptonuria

Alkaptonuria is diagnosed through a combination of physical exams, medical history, and genetic testing. Your doctor may ask about your symptoms, family history, and any medications you're currently taking. They may also perform a urine test to check for high levels of homogentisic acid.

If your doctor suspects you have alkaptonuria, they may recommend genetic testing. This involves analyzing your DNA to look for mutations or changes in the genes that cause alkaptonuria. Nx GEN SEQUENCING is a powerful tool that can be used to identify genetic mutations quickly and accurately.

Alkaptonuria Test Cost

The cost of genetic testing for alkaptonuria can vary depending on the testing method used and the lab that performs the test. At DNA Labs India, we offer Nx GEN SEQUENCING for alkaptonuria testing at a cost of INR 23400. This test analyzes all of the genes associated with alkaptonuria, providing comprehensive results that can help guide treatment and management decisions.

Conclusion

If you're experiencing symptoms of alkaptonuria, it's important to speak with your doctor right away. Genetic testing can help confirm a diagnosis and guide treatment decisions. At DNA Labs India, we offer Nx GEN SEQUENCING for alkaptonuria testing at an affordable cost. Contact us today to learn more.

Alkaptonuria is a rare disorder of autosomal recessive inheritance. In this condition urine turns black when exposed to air due to accumulation of Homogentisic acid (HGA). Later in life, patients develop Ochronosis, a buildup of dark pigment in connective tissues such as cartilage and skin as well as Ochronotic osteoarthropathy. HGD gene provides instructions for making an enzyme called homogentisate oxidase, which helps in the break down of amino acids phenylalanine and tyrosine. Mutations in HGD gene lead to accumulation of homogentisic acid in the body.