Short Description

NGS genetic DNA test detecets for variant and mutation detection in KLF1 gene for Dyserythropoietic anemia, congenital, type 4

PreTest Information

Clinical History of Patient who is going for KLF1 Gene Dyserythropoietic anemia, congenital, type 4 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with KLF1 Gene Dyserythropoietic anemia, congenital, type 4 NGS Genetic DNA Test gene KLF1

Detail Description

KLF1 Gene Dyserythropoietic Anemia, Congenital, Type 4: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

Dyserythropoietic anemia is a rare genetic disorder that affects the production of red blood cells. It is a group of inherited hematological disorders characterized by ineffective erythropoiesis, leading to varying degrees of anemia, reticulocytosis, and erythroblastosis in the bone marrow.

Congenital dyserythropoietic anemia type IV (CDA IV) is caused by mutations in the KLF1 gene, which encodes a transcription factor involved in the regulation of erythropoiesis. This disorder is inherited in an autosomal dominant pattern, which means that a person only needs to inherit one copy of the mutated gene from one parent to develop the condition.

Symptoms of KLF1 Gene Dyserythropoietic Anemia, Congenital, Type 4

The symptoms of CDA IV can vary from person to person, but they generally include:

• Chronic anemia
• Jaundice
• Splenomegaly
• Gallstones
• Bone marrow erythroblastosis

Some people with CDA IV may also experience growth and developmental delays, skeletal abnormalities, and other health issues.

Diagnosis of KLF1 Gene Dyserythropoietic Anemia, Congenital, Type 4

The diagnosis of CDA IV is typically made based on a combination of clinical features, laboratory tests, and genetic testing. Your doctor may order blood tests to look for signs of anemia, such as low hemoglobin and hematocrit levels, and elevated levels of reticulocytes and bilirubin.

If your doctor suspects that you have CDA IV, they may recommend genetic testing to confirm the diagnosis. This typically involves a Next-Generation Sequencing (NGS) DNA test, which can identify mutations in the KLF1 gene.

NGS Genetic DNA Test Cost for KLF1 Gene Dyserythropoietic Anemia, Congenital, Type 4

The cost of NGS genetic DNA testing for CDA IV can vary depending on the laboratory and the specific test that is ordered. At DNA Labs India, we offer NGS genetic DNA testing for CDA IV for INR 20,000.

It's important to note that this cost may not include the cost of consultation with a genetic counselor or other healthcare professional, which may be necessary to interpret the results of the test and provide guidance on treatment options and management.

Conclusion

KLF1 gene dyserythropoietic anemia, congenital, type 4 is a rare genetic disorder that can cause chronic anemia, jaundice, spleen enlargement, gallstones, and bone marrow erythroblastosis. It is inherited in an autosomal dominant pattern and is caused by mutations in the KLF1 gene. If you suspect that you or a loved one may have CDA IV, it's important to talk to your healthcare provider about diagnostic testing options, including NGS genetic DNA testing, which can help confirm the diagnosis and guide treatment and management.

At DNA Labs India, we are committed to providing accurate and affordable genetic testing services to help patients and healthcare providers make informed decisions about their health. Contact us today to learn more about our NGS genetic DNA testing for KLF1 gene dyserythropoietic anemia, congenital, type 4.

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 KLF1 Gene Dyserythropoietic anemia, congenital, type 4 NGS Genetic DNA Test