Short Description

NGS genetic DNA test detecets for variant and mutation detection in FLNA gene for Otopaladigital syndrome type 2

PreTest Information

Clinical History of Patient who is going for SLC52A3 Gene Brown-Vialetto-Van Laere syndrome 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SLC52A3 Gene Brown-Vialetto-Van Laere syndrome 1 NGS Genetic DNA Test gene SLC52A17

Detail Description

FLNA Gene Otopaladigital Syndrome Type 2 NGS Genetic DNA Test Cost INR 20000 Symptoms Diagnosis

FLNA Gene Otopaladigital Syndrome Type 2 (OPD2) is a rare genetic disorder that affects the development of the skeletal system, ears, and digits. It is caused by mutations in the FLNA gene, which provides instructions for making the protein filamin A. Filamin A is important for the proper formation and maintenance of bones, cartilage, and other tissues in the body.

OPD2 is inherited in an X-linked dominant pattern, which means that the condition is caused by a mutation in the FLNA gene on the X chromosome. Females have two X chromosomes, so they can inherit a mutated copy from either parent. Males have one X chromosome and one Y chromosome, so they only inherit a mutated copy from their mother.

The symptoms of OPD2 can vary widely, even among affected individuals in the same family. Common symptoms include:

• Abnormal curvature of the spine (scoliosis)
• Short stature
• Abnormalities of the fingers and toes, such as extra digits (polydactyly) or fused digits (syndactyly)
• Hearing loss
• Abnormalities of the skull and face

OPD2 is diagnosed through a combination of physical examination, medical history, and genetic testing. Genetic testing can confirm the presence of a mutation in the FLNA gene.

NGS (Next-Generation Sequencing) Genetic DNA Test is a cutting-edge technology that enables the analysis of multiple genes simultaneously, including the FLNA gene. The cost of the FLNA Gene Otopaladigital Syndrome Type 2 NGS Genetic DNA Test at DNA Labs India is INR 20000.

If you suspect that you or a loved one may have OPD2, it is important to seek medical attention and genetic counseling. DNA Labs India offers comprehensive genetic testing and counseling services to help you better understand your genetic risks and make informed decisions about your health.

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 Otopaladigital syndrome type 2 NGS Genetic DNA Test