Short Description

NGS genetic DNA test detecets for variant and mutation detection in TSR2 gene for Diamond-Blackfan anemia type 14 with mandibulofacial dysostosis

PreTest Information

Clinical History of Patient who is going for TSR2 Gene Diamond-Blackfan anemia type 14 with mandibulofacial dysostosis NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TSR2 Gene Diamond-Blackfan anemia type 14 with mandibulofacial dysostosis NGS Genetic DNA Test gene TSR2

Detail Description

TSR2 Gene Diamond-Blackfan Anemia Type 14 with Mandibulofacial Dysostosis NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Diamond-Blackfan anemia (DBA) is a rare genetic disorder that affects the production of red blood cells. The condition is caused by mutations in various genes, including TSR2 gene. TSR2 gene Diamond-Blackfan anemia type 14 with mandibulofacial dysostosis is a specific type of DBA caused by mutations in the TSR2 gene.

Symptoms of TSR2 Gene Diamond-Blackfan Anemia Type 14 with Mandibulofacial Dysostosis

The symptoms of TSR2 Gene Diamond-Blackfan Anemia Type 14 with Mandibulofacial Dysostosis can vary from person to person. However, some of the common symptoms of the condition include:

• Pale skin
• Weakness
• Fatigue
• Short stature
• Mandibulofacial dysostosis (abnormal development of the jaw and face)
• Abnormalities of the hands and feet
• Heart defects

Diagnosis of TSR2 Gene Diamond-Blackfan Anemia Type 14 with Mandibulofacial Dysostosis

Diagnosis of TSR2 Gene Diamond-Blackfan Anemia Type 14 with Mandibulofacial Dysostosis can be challenging, as the symptoms of the condition can be similar to other medical conditions. However, a genetic test can help confirm the diagnosis. The NGS Genetic DNA Test is a diagnostic test that can identify mutations in the TSR2 gene.

NGS Genetic DNA Test Cost INR:20000

The cost of the NGS Genetic DNA Test for TSR2 Gene Diamond-Blackfan Anemia Type 14 with Mandibulofacial Dysostosis is INR:20000. The test is available at DNA Labs India, a leading genetic testing laboratory in India.

Conclusion

TSR2 Gene Diamond-Blackfan Anemia Type 14 with Mandibulofacial Dysostosis is a rare genetic disorder that can cause a range of symptoms, including anemia, short stature, and mandibulofacial dysostosis. The NGS Genetic DNA Test is a diagnostic test that can help confirm the diagnosis of the condition. The test is available at DNA Labs India at an affordable cost of INR:20000. Early diagnosis of the condition can help ensure appropriate management and treatment of the symptoms.

If you suspect that you or your loved one may have TSR2 Gene Diamond-Blackfan Anemia Type 14 with Mandibulofacial Dysostosis, it is important to consult with a healthcare professional for proper diagnosis and treatment.

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 TSR2 Gene Diamond-Blackfan anemia type 14 with mandibulofacial dysostosis NGS Genetic DNA Test