Short Description

NGS genetic DNA test detecets for variant and mutation detection in SRP72 gene for Bone marrow failure syndrome type 1

PreTest Information

Clinical History of Patient who is going for SRP72 Gene Bone marrow failure syndrome type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SRP72 Gene Bone marrow failure syndrome type 1 NGS Genetic DNA Test gene SRP72

Detail Description

SRP72 Gene Bone Marrow Failure Syndrome Type 1 NGS Genetic DNA Test

Bone marrow failure syndrome type 1 is a rare genetic disorder that affects the production of blood cells in the bone marrow. It is caused by mutations in the SRP72 gene, which is involved in the process of protein synthesis.

NGS (Next Generation Sequencing) Genetic DNA Test is a powerful tool that can be used to diagnose bone marrow failure syndrome type 1. This test uses high-throughput sequencing technology to analyze the DNA sequence of the SRP72 gene and identify any mutations that may be present.

Symptoms of Bone Marrow Failure Syndrome Type 1

The symptoms of bone marrow failure syndrome type 1 can vary from person to person and may include:

• Fatigue
• Shortness of breath
• Pale skin
• Easy bruising or bleeding
• Infections
• Abnormal growth or development

If you or someone you know is experiencing any of these symptoms, it is important to seek medical attention right away.

Diagnosis of Bone Marrow Failure Syndrome Type 1

Diagnosis of bone marrow failure syndrome type 1 typically involves a combination of physical exams, blood tests, and genetic testing.

NGS Genetic DNA Test is a reliable and accurate way to diagnose bone marrow failure syndrome type 1. It can identify mutations in the SRP72 gene that are associated with the disorder.

Cost of NGS Genetic DNA Test for Bone Marrow Failure Syndrome Type 1

The cost of NGS Genetic DNA Test for bone marrow failure syndrome type 1 in India is approximately INR 20,000. This cost may vary depending on the specific testing facility and any additional fees that may be required.

Conclusion

Bone marrow failure syndrome type 1 is a rare genetic disorder that can have serious health consequences if left untreated. NGS Genetic DNA Test is a powerful tool that can be used to diagnose the disorder and help patients receive appropriate treatment. If you or someone you know is experiencing symptoms of bone marrow failure syndrome type 1, it is important to seek medical attention right away.

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 SRP72 Gene Bone marrow failure syndrome type 1 NGS Genetic DNA Test