Short Description

NGS genetic DNA test detecets for variant and mutation detection in HPS1 gene for Hermansky-Pudlak syndrome type 1

PreTest Information

Clinical History of Patient who is going for HPS1 Gene Hermansky-Pudlak syndrome type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with HPS1 Gene Hermansky-Pudlak syndrome type 1 NGS Genetic DNA Test gene HPS1

Detail Description

HPS1 Gene Hermansky-Pudlak Syndrome Type 1 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis - DNA Labs India

Hermansky-Pudlak Syndrome (HPS) is a rare genetic disorder that affects various organs and tissues of the body. There are currently 10 types of HPS, and HPS1 is the most common type. In this blog, we will discuss the HPS1 gene, Hermansky-Pudlak Syndrome Type 1, NGS Genetic DNA Test cost INR:20000, symptoms, diagnosis, and more.

HPS1 Gene

The HPS1 gene is located on chromosome 10 and provides instructions for making a protein that is involved in the formation and function of lysosomes, which are structures within cells that break down and recycle materials. Mutations in the HPS1 gene can lead to a decrease in the amount or function of the HPS1 protein, which can cause Hermansky-Pudlak Syndrome Type 1.

Hermansky-Pudlak Syndrome Type 1

Hermansky-Pudlak Syndrome Type 1 is characterized by oculocutaneous albinism, bleeding disorders, and pulmonary fibrosis. Oculocutaneous albinism is a condition that affects the pigmentation of the skin, hair, and eyes, causing them to be lighter than usual. Bleeding disorders can include easy bruising, nosebleeds, and prolonged bleeding after injury or surgery. Pulmonary fibrosis is a condition that causes scarring of the lungs, which can lead to difficulty breathing and a decreased ability to exercise.

NGS Genetic DNA Test Cost INR:20000

NGS Genetic DNA Test cost INR:20000 is a type of genetic testing that uses next-generation sequencing technology to analyze a patient's DNA. This test can identify mutations in the HPS1 gene that may be associated with Hermansky-Pudlak Syndrome Type 1. DNA Labs India offers affordable genetic testing services, including NGS Genetic DNA Test cost INR:20000, to help patients and their families better understand their genetic risks and make informed decisions about their health.

Symptoms

The symptoms of Hermansky-Pudlak Syndrome Type 1 can vary widely between individuals, even within the same family. However, some common symptoms may include:

• Oculocutaneous albinism
• Bleeding disorders
• Pulmonary fibrosis
• Easy bruising
• Nosebleeds
• Prolonged bleeding after injury or surgery

Diagnosis

Diagnosis of Hermansky-Pudlak Syndrome Type 1 typically involves a combination of clinical evaluation, genetic testing, and imaging studies. A doctor may perform a physical exam to look for signs of oculocutaneous albinism, bleeding disorders, or pulmonary fibrosis. Genetic testing, such as NGS Genetic DNA Test cost INR:20000, can be used to identify mutations in the HPS1 gene. Imaging studies, such as a chest X-ray or CT scan, can help to evaluate the extent of pulmonary fibrosis.

If you or a loved one is experiencing symptoms of Hermansky-Pudlak Syndrome Type 1 or has a family history of the condition, it is important to speak with a doctor or genetic counselor about genetic testing options. DNA Labs India offers affordable and reliable genetic testing services, including NGS Genetic DNA Test cost INR:20000, to help patients and their families better understand their genetic risks and make informed decisions about their health.

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 HPS1 Gene Hermansky-Pudlak syndrome type 1 NGS Genetic DNA Test