Short Description

NGS genetic DNA test detecets for variant and mutation detection in NKX3-2 gene for Spondylo-megaepiphyseal-metaphyseal dysplasia

PreTest Information

Clinical History of Patient who is going for NKX3-2 Gene Spondylo-megaepiphyseal-metaphyseal dysplasia NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with NKX3-2 Gene Spondylo-megaepiphyseal-metaphyseal dysplasia NGS Genetic DNA Test gene NKX3-2

Detail Description

NKX3-2 Gene Spondylo-megaepiphyseal-metaphyseal dysplasia NGS Genetic DNA Test: Symptoms, Diagnosis and Cost in India

Spondylo-megaepiphyseal-metaphyseal dysplasia (SMMD) is a rare genetic disorder characterized by skeletal abnormalities. The disorder is caused by mutations in the NKX3-2 gene. NKX3-2 gene provides instructions for making a protein that is involved in the formation and maintenance of bones and cartilage. SMMD affects bone growth and development, leading to short stature and skeletal abnormalities.

Symptoms of SMMD

SMMD is characterized by skeletal abnormalities that affect bone growth and development. The most common symptoms of SMMD include:

• Short stature
• Abnormal curvature of the spine (scoliosis)
• Abnormal development of the bones of the hands and feet
• Abnormal development of the hip bone
• Abnormal development of the knee joint

Other symptoms of SMMD may include joint pain and stiffness, difficulty walking, and limited mobility.

Diagnosis of SMMD

The diagnosis of SMMD is based on clinical and radiological features. A genetic test can confirm the diagnosis of SMMD. The most common genetic test for SMMD is Next Generation Sequencing (NGS). NGS is a high-throughput DNA sequencing technology that can rapidly sequence large amounts of DNA. NGS can detect mutations in the NKX3-2 gene that cause SMMD.

NGS Genetic DNA Test Cost in India

The cost of NGS Genetic DNA Test for SMMD in India is around INR 20,000. The cost may vary depending on the laboratory and location.

Conclusion

SMMD is a rare genetic disorder characterized by skeletal abnormalities that affect bone growth and development. The disorder is caused by mutations in the NKX3-2 gene. NGS Genetic DNA Test is the most common genetic test for SMMD, which can confirm the diagnosis of SMMD. The cost of NGS Genetic DNA Test for SMMD in India is around INR 20,000.

If you suspect that you or someone you know may have SMMD, it is recommended to consult a genetic counselor or a healthcare professional for further evaluation and 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 NKX3-2 Gene Spondylo-megaepiphyseal-metaphyseal dysplasia NGS Genetic DNA Test