Short Description

NGS genetic DNA test detecets for variant and mutation detection in PRKD1 gene for Congenital heart defects and ectodermal dysplasia

PreTest Information

Clinical History of Patient who is going for PRKD1 Gene Congenital heart defects and ectodermal dysplasia NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PRKD1 Gene Congenital heart defects and ectodermal dysplasia NGS Genetic DNA Test gene PRKD1

Detail Description

PRKD1 Gene Congenital Heart Defects and Ectodermal Dysplasia NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Congenital heart defects and ectodermal dysplasia are genetic disorders that affect the development of the heart and skin, respectively. These conditions are caused by mutations in genes, such as the PRKD1 gene. DNA Labs India offers an NGS genetic DNA test for the PRKD1 gene, which can help diagnose these conditions. This article will discuss the symptoms, diagnosis, and cost of this test.

Symptoms of Congenital Heart Defects and Ectodermal Dysplasia

Congenital heart defects are present at birth and can affect the structure of the heart and how it works. Symptoms of congenital heart defects include:

• Rapid breathing
• Cyanosis (a bluish tint to the skin, lips, and fingernails)
• Fatigue
• Poor blood circulation
• Shortness of breath
• Swelling in the legs, abdomen, or areas around the eyes
• Poor feeding or difficulty feeding in infants

Ectodermal dysplasia affects the skin, hair, teeth, and nails. Symptoms of ectodermal dysplasia include:

• Abnormal or absent teeth
• Abnormal or absent sweat glands
• Abnormal or absent hair
• Abnormal or absent nails
• Thin skin
• Delayed or absent puberty

Diagnosis of Congenital Heart Defects and Ectodermal Dysplasia

Diagnosis of congenital heart defects and ectodermal dysplasia typically involves a physical examination and medical history. Additional tests may include:

• Echocardiogram
• Electrocardiogram (ECG)
• Magnetic resonance imaging (MRI)
• Computed tomography (CT) scan
• Skin biopsy
• Dental X-rays

The PRKD1 gene is associated with both congenital heart defects and ectodermal dysplasia. A genetic test for this gene can help diagnose these conditions.

NGS Genetic DNA Test for PRKD1 Gene

DNA Labs India offers an NGS genetic DNA test for the PRKD1 gene. This test uses next-generation sequencing technology to analyze the DNA sequence of the PRKD1 gene. The test can detect mutations in this gene that are associated with congenital heart defects and ectodermal dysplasia.

The cost of this test is INR 20,000. Results are typically available within 4-6 weeks.

Conclusion

Congenital heart defects and ectodermal dysplasia are genetic disorders that can have serious health consequences. The PRKD1 gene is associated with both of these conditions, and a genetic test for this gene can help diagnose them. DNA Labs India offers an NGS genetic DNA test for the PRKD1 gene at a cost of INR 20,000. If you or a loved one is experiencing symptoms of these conditions, talk to your healthcare provider about whether this test may be right for you.

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 PRKD1 Gene Congenital heart defects and ectodermal dysplasia NGS Genetic DNA Test