Short Description

NGS genetic DNA test detecets for variant and mutation detection in MTHFR gene for Homocystinuria

PreTest Information

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

Detail Description

MTHFR Gene Homocystinuria NGS Genetic DNA Test: Symptoms, Diagnosis and Cost in India

Homocystinuria is a genetic disorder that affects the metabolism of the amino acid methionine. It is caused by mutations in the MTHFR gene, which codes for an enzyme that converts homocysteine to methionine. When this enzyme is not working correctly, homocysteine levels can build up in the blood, leading to a range of symptoms.

Symptoms of Homocystinuria

Homocystinuria can cause a range of symptoms that vary in severity, including:

• Intellectual disability
• Developmental delays
• Seizures
• Eye problems, including nearsightedness, cataracts, and dislocated lenses
• Skeletal abnormalities, such as scoliosis and thin bones
• Cardiovascular disease
• Increased risk of blood clots

These symptoms can develop in infancy or childhood and can worsen over time if left untreated.

Diagnosis of Homocystinuria

Diagnosis of homocystinuria involves a combination of clinical evaluation, biochemical testing, and genetic testing. Doctors will evaluate the patient's symptoms, medical history, and family history to determine if homocystinuria is a possible diagnosis.

Biochemical testing involves measuring homocysteine levels in the blood and urine. Elevated levels of homocysteine can indicate the presence of homocystinuria. Genetic testing involves sequencing the MTHFR gene to identify mutations that may be causing the disorder.

MTHFR Gene Homocystinuria NGS Genetic DNA Test

The MTHFR Gene Homocystinuria NGS Genetic DNA Test is a comprehensive genetic test that can identify mutations in the MTHFR gene that may be causing homocystinuria. This test uses next-generation sequencing (NGS) technology to sequence the entire MTHFR gene and detect any mutations or variants.

The cost of the MTHFR Gene Homocystinuria NGS Genetic DNA Test in India is approximately INR 20,000. This test is available at DNA Labs India, a leading provider of genetic testing services in the country.

Conclusion

Homocystinuria is a genetic disorder that can cause a range of symptoms, including developmental delays, seizures, and cardiovascular disease. Diagnosis involves a combination of clinical evaluation, biochemical testing, and genetic testing. The MTHFR Gene Homocystinuria NGS Genetic DNA Test is a comprehensive genetic test that can identify mutations in the MTHFR gene that may be causing the disorder. This test is available at DNA Labs India at a cost of approximately INR 20,000.

If you suspect that you or a loved one may have homocystinuria, it is important to seek medical attention and genetic testing as soon as possible. Early diagnosis and treatment can help manage symptoms and prevent complications.

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 MTHFR Gene Homocystinuria NGS Genetic DNA Test