Short Description

NGS genetic DNA test detecets for variant and mutation detection in GAMT gene for Guanidinoacetate methyltransferase deficiency

PreTest Information

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

Detail Description

GAMT Gene Guanidinoacetate Methyltransferase Deficiency NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

GAMT Gene Guanidinoacetate Methyltransferase Deficiency is a rare genetic disorder that affects the body's ability to produce creatine, a substance that helps provide energy to muscles. This disorder is caused by a mutation in the GAMT gene, which leads to a deficiency in the enzyme guanidinoacetate methyltransferase (GAMT).

Symptoms of GAMT Gene Guanidinoacetate Methyltransferase Deficiency

The symptoms of GAMT Gene Guanidinoacetate Methyltransferase Deficiency can vary from person to person, but may include:

• Delayed speech
• Intellectual disability
• Seizures
• Behavioral problems
• Muscle weakness
• Ataxia (loss of control of body movements)

Diagnosis of GAMT Gene Guanidinoacetate Methyltransferase Deficiency

Diagnosis of GAMT Gene Guanidinoacetate Methyltransferase Deficiency can be done through genetic testing. This involves analyzing a person's DNA to look for mutations in the GAMT gene. DNA Labs India offers NGS Genetic DNA testing for GAMT Gene Guanidinoacetate Methyltransferase Deficiency at a cost of INR 20000.

NGS Genetic DNA Test Cost INR 20000

The NGS Genetic DNA test for GAMT Gene Guanidinoacetate Methyltransferase Deficiency is available at DNA Labs India for a cost of INR 20000. This test uses next-generation sequencing (NGS) technology to analyze a person's DNA and detect mutations in the GAMT gene.

Conclusion

GAMT Gene Guanidinoacetate Methyltransferase Deficiency is a rare genetic disorder that can cause a range of symptoms, including delayed speech, intellectual disability, seizures, and muscle weakness. Diagnosis of this disorder can be done through genetic testing, and DNA Labs India offers NGS Genetic DNA testing for GAMT Gene Guanidinoacetate Methyltransferase Deficiency at a cost of INR 20000.

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 GAMT Gene Guanidinoacetate methyltransferase deficiency NGS Genetic DNA Test