Short Description

NGS genetic DNA test detecets for variant and mutation detection in FLNA gene for Frontometaphyseal dysplasia

PreTest Information

Clinical History of Patient who is going for FLNA Gene Frontometaphyseal dysplasia NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with FLNA Gene Frontometaphyseal dysplasia

Detail Description

FLNA Gene Frontometaphyseal Dysplasia NGS Genetic DNA Test Cost: INR 20,000

Frontometaphyseal dysplasia (FMD) is a rare genetic condition that affects bone and skin development. It is caused by mutations in the FLNA gene, which encodes a protein called filamin A. This protein is involved in the organization of the cytoskeleton and helps maintain the structural integrity of cells.

FLNA mutations can cause a range of symptoms, including skeletal abnormalities, skin changes, and intellectual disability. The severity of these symptoms can vary widely, even among individuals with the same mutation. Some people with FLNA mutations may have only mild symptoms, while others may be severely affected.

Symptoms of Frontometaphyseal Dysplasia

The symptoms of FMD can include:

• Facial abnormalities, such as a broad forehead, widely spaced eyes, and a flat nasal bridge
• Skeletal abnormalities, such as bowing of the legs, short stature, and abnormal curvature of the spine
• Skin changes, such as thickening of the skin on the palms and soles
• Intellectual disability or developmental delay

Other features that have been reported in some individuals with FLNA mutations include heart defects, seizures, and gastrointestinal problems.

Diagnosis of Frontometaphyseal Dysplasia

The diagnosis of FMD is typically based on the presence of characteristic symptoms and a family history of the condition. Genetic testing can be used to confirm the diagnosis and identify the specific FLNA mutation responsible for the condition.

Next-generation sequencing (NGS) is a powerful tool for genetic testing, as it can analyze multiple genes simultaneously and identify mutations that may not be detected by other methods. DNA Labs India offers an NGS-based genetic test for FMD that costs INR 20,000.

Cost of FLNA Gene Frontometaphyseal Dysplasia NGS Genetic DNA Test

The cost of the FLNA Gene Frontometaphyseal Dysplasia NGS Genetic DNA Test offered by DNA Labs India is INR 20,000.

Conclusion

Frontometaphyseal dysplasia is a rare genetic condition that can cause a range of symptoms, including skeletal abnormalities, skin changes, and intellectual disability. FLNA mutations are responsible for the condition, and genetic testing can be used to confirm the diagnosis and identify the specific mutation. DNA Labs India offers an NGS-based genetic test for FMD that costs INR 20,000.

If you or a family member have symptoms of FMD or a family history of the condition, consider speaking with a genetic counselor or healthcare provider to determine if genetic testing is appropriate.

For more information, visit DNA Labs India.

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 FLNA Gene Frontometaphyseal dysplasia NGS Genetic DNA Test