Short Description

NGS genetic DNA test detecets for variant and mutation detection in MPDU1 gene for Glycosylation disorder type 1F

PreTest Information

Clinical History of Patient who is going for MPDU1 Gene Glycosylation disorder type 1F NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Glycosylation disorder type 1F

Detail Description

MPDU1 Gene Glycosylation Disorder Type 1F NGS Genetic DNA Test: Symptoms, Diagnosis, and Cost

MPDU1 gene glycosylation disorder type 1F is a rare genetic disorder that affects the body's ability to properly produce and process certain sugars. This disorder is caused by mutations in the MPDU1 gene, which is responsible for producing a protein that plays a key role in glycosylation, the process of adding sugars to proteins and lipids in the body.

Symptoms of MPDU1 Gene Glycosylation Disorder Type 1F

The symptoms of MPDU1 gene glycosylation disorder type 1F can vary widely depending on the severity of the condition. Some individuals may be asymptomatic, while others may experience a range of symptoms including:

• Developmental delays
• Intellectual disability
• Seizures
• Abnormal muscle tone
• Microcephaly (abnormally small head size)
• Facial dysmorphism (abnormal facial features)
• Organ dysfunction

Diagnosis of MPDU1 Gene Glycosylation Disorder Type 1F

Diagnosis of MPDU1 gene glycosylation disorder type 1F typically involves a combination of clinical evaluation and genetic testing. A doctor may perform a physical examination, review the patient's medical history, and order imaging or laboratory tests to evaluate the patient's symptoms.

Genetic testing is the most reliable way to confirm a diagnosis of MPDU1 gene glycosylation disorder type 1F. Next-generation sequencing (NGS) is a type of genetic testing that can analyze multiple genes at once and is commonly used to diagnose rare genetic disorders.

NGS Genetic DNA Test Cost for MPDU1 Gene Glycosylation Disorder Type 1F

The cost of an NGS genetic DNA test for MPDU1 gene glycosylation disorder type 1F in India is typically around INR 20,000. However, the cost may vary depending on the specific testing laboratory and any additional tests that may be required.

Conclusion

MPDU1 gene glycosylation disorder type 1F is a rare genetic disorder that can cause a range of symptoms including developmental delays, intellectual disability, and seizures. Diagnosis typically involves genetic testing, including NGS, which can cost around INR 20,000 in India. If you or a loved one are experiencing symptoms of MPDU1 gene glycosylation disorder type 1F, it is important to speak with a healthcare provider for proper diagnosis and treatment.

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 MPDU1 Gene Glycosylation disorder type 1F NGS Genetic DNA Test