Short Description

NGS genetic DNA test detecets for variant and mutation detection in FLNB gene for Atelosteogenesis type 1

PreTest Information

Clinical History of Patient who is going for FLNB Gene Atelosteogenesis type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with FLNB Gene Atelosteogenesis type 1 NGS Genetic DNA Test gene FLNB

Detail Description

FLNB Gene Atelosteogenesis Type 1 NGS Genetic DNA Test Cost INR 20000: Symptoms & Diagnosis

Atelosteogenesis Type 1 (AO1) is a rare genetic disorder that affects bone and cartilage development. It is caused by mutations in the FLNB gene. FLNB is responsible for encoding filamin B, a protein that plays a crucial role in the formation and maintenance of bone and cartilage.

If you suspect that your child may have AO1, it is important to get them tested as soon as possible. DNA Labs India offers an NGS genetic DNA test that can detect mutations in the FLNB gene. The cost of this test is INR 20000.

Symptoms of AO1

The symptoms of AO1 can vary from person to person, but they generally include:

• Short stature
• Abnormal curvature of the spine (scoliosis)
• Joint dislocations
• Clubfoot
• Cleft palate
• Respiratory problems

These symptoms can be present at birth or may become apparent in early childhood.

Diagnosis of AO1

If your child is experiencing any of the symptoms listed above, it is important to seek medical attention. A doctor may perform a physical exam and order imaging tests, such as X-rays, to evaluate bone and joint development.

If AO1 is suspected, genetic testing can confirm the diagnosis. As mentioned earlier, DNA Labs India offers an NGS genetic DNA test that can detect mutations in the FLNB gene.

Conclusion

AO1 is a rare genetic disorder that can cause significant physical and developmental challenges. If you suspect that your child may have this condition, it is important to seek medical attention and consider genetic testing. DNA Labs India offers an NGS genetic DNA test that can detect mutations in the FLNB gene, the cause of AO1. The cost of this test is INR 20000.

Early detection and diagnosis can help ensure that your child receives the appropriate care and support they need to manage their symptoms and thrive.

For more information on genetic testing and AO1, contact DNA Labs India today.

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 FLNB Gene Atelosteogenesis type 1 NGS Genetic DNA Test