Short Description

NGS genetic DNA test detecets for variant and mutation detection in PIEZO1 gene for Dehydrated hereditary stomatocytosis

PreTest Information

Clinical History of Patient who is going for PIEZO1 Gene Dehydrated hereditary stomatocytosis NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PIEZO1 Gene Dehydrated hereditary stomatocytosis NGS Genetic DNA Test gene PIEZO1

Detail Description

PIEZO1 Gene Dehydrated Hereditary Stomatocytosis NGS Genetic DNA Test

Dehydrated Hereditary Stomatocytosis (DHS) is a rare genetic disorder that affects the red blood cells causing them to lose water and become dehydrated. This disorder is caused by mutations in the PIEZO1 gene which encodes a protein that plays a critical role in the regulation of cell volume. DHS is inherited in an autosomal dominant manner, which means that a person only needs to inherit one copy of the mutated gene from either parent to develop the disorder.

Symptoms of DHS

• Anemia
• Jaundice
• Fatigue
• Enlarged spleen
• Increased risk of blood clots

Diagnosis of DHS

The diagnosis of DHS is typically made through a combination of clinical evaluation, laboratory testing, and genetic testing. The laboratory tests may include a complete blood count (CBC), peripheral blood smear, and osmotic fragility test. Genetic testing is done to confirm the diagnosis and identify the specific PIEZO1 gene mutation responsible for DHS. Next-Generation Sequencing (NGS) Genetic DNA Test is the most accurate and reliable way to diagnose DHS.

NGS Genetic DNA Test Cost

DNA Labs India offers NGS Genetic DNA Test for PIEZO1 Gene Dehydrated Hereditary Stomatocytosis at a cost of INR 20000 only.

Conclusion

DHS caused by PIEZO1 Gene Mutation is a rare genetic disorder that affects the red blood cells and can cause anemia, jaundice, fatigue, enlarged spleen, and increased risk of blood clots. The diagnosis of DHS is made through a combination of clinical evaluation, laboratory testing, and genetic testing. NGS Genetic DNA Test is the most accurate and reliable way to diagnose DHS. DNA Labs India offers NGS Genetic DNA Test for PIEZO1 Gene Dehydrated Hereditary Stomatocytosis at a cost of INR 20000 only.

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 PIEZO1 Gene Dehydrated hereditary stomatocytosis NGS Genetic DNA Test