Short Description

NGS genetic DNA test detecets for variant and mutation detection in MMADHC gene for Methylmalonic aciduria CblD type

PreTest Information

Clinical History of Patient who is going for MMADHC Gene Methylmalonic aciduria CblD type NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Methylmalonic aciduria CblD type

Detail Description

MMADHC Gene Methylmalonic Aciduria CblD Type NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

MMADHC gene is responsible for the production of an enzyme called methylmalonic aciduria coenzyme A mutase (MUT). This enzyme plays a crucial role in breaking down certain amino acids and fats in the body. Mutations in the MMADHC gene can cause Methylmalonic aciduria CblD type, a rare genetic disorder that affects the body's ability to process certain proteins and fats.

NGS Genetic DNA test is a diagnostic tool used to detect mutations in the MMADHC gene. The test analyzes the DNA sample to identify any alterations in the gene sequence that may be responsible for causing the disorder. The cost of the NGS Genetic DNA test for MMADHC gene mutation detection is INR 20000 at DNA Labs India.

Symptoms of Methylmalonic Aciduria CblD Type

• Developmental delays
• Feeding difficulties
• Weak muscle tone
• Seizures
• Organ dysfunction
• Hyperammonemia

The symptoms of Methylmalonic Aciduria CblD Type can vary widely depending on the severity of the condition. Some infants may show signs of the disorder shortly after birth, while others may not develop symptoms until later in life.

Diagnosis of Methylmalonic Aciduria CblD Type

Diagnosis of Methylmalonic Aciduria CblD Type is done through genetic testing. NGS Genetic DNA test is the most accurate and reliable method for detecting mutations in the MMADHC gene. The test can be performed on a blood or saliva sample collected from the patient.

If you suspect that you or your child may have Methylmalonic Aciduria CblD Type, it is important to consult a genetic counselor or a healthcare professional who specializes in genetic disorders. They can provide you with information about the testing process and help you understand the results.

At DNA Labs India, we offer NGS Genetic DNA test for MMADHC gene mutation detection at an affordable cost of INR 20000. Our team of experienced genetic counselors and healthcare professionals is dedicated to providing accurate and reliable testing services to our clients.

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 MMADHC Gene Methylmalonic aciduria CblD type NGS Genetic DNA Test