Short Description

NGS genetic DNA test detecets for variant and mutation detection in PHGDH gene for Phosphoglycerate dehydrogenase deficiency

PreTest Information

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

Detail Description

PHGDH Gene Deficiency: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

Phosphoglycerate dehydrogenase (PHGDH) deficiency is a rare autosomal recessive genetic disorder that affects the production of the amino acid serine. Serine is an important building block for proteins, DNA, and other molecules in the body. PHGDH deficiency can lead to developmental delay, intellectual disability, seizures, and other neurological problems.

The symptoms of PHGDH deficiency can vary widely depending on the severity of the condition. Some individuals may have mild symptoms, while others may have severe symptoms that affect their daily lives. Common symptoms include:

• Developmental delay
• Intellectual disability
• Seizures
• Abnormal muscle tone
• Microcephaly (small head size)

Diagnosis of PHGDH deficiency is typically done through genetic testing. Next-generation sequencing (NGS) genetic DNA testing can be used to detect mutations in the PHGDH gene. This type of testing is highly accurate and can detect even small genetic changes that may be missed by other types of testing. At DNA Labs India, we offer NGS genetic DNA testing for PHGDH deficiency at a cost of INR 20,000.

If you suspect that you or a loved one may have PHGDH deficiency, it is important to seek medical attention as soon as possible. Early diagnosis and treatment can help improve outcomes and quality of life. Contact DNA Labs India today to schedule an appointment for NGS genetic DNA testing.

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 PHGDH Gene Phosphoglycerate dehydrogenase deficiency NGS Genetic DNA Test