PHOX2A Gene Central hypoventilation syndrome, congenital NGS Genetic DNA Test

PHOX2A Gene Central hypoventilation syndrome, congenital NGS Genetic DNA Test

Disease: Dysmorphology

Method: NGS Technology

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Sample Types
  • Blood or Extracted DNA or One drop Blood on FTA Card

20,000.00/- Rs ₹28,000.0028% off

  • Results in : 3 to 4 Weeks

Why to get tested at DNA Labs India for PHOX2A Gene Central hypoventilation syndrome, congenital NGS Genetic DNA Test ?

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PHOX2A Gene Central hypoventilation syndrome, congenital NGS Genetic DNA Test Cost 20000 Rs


Test Name PHOX2A Gene Central hypoventilation syndrome, congenital NGS Genetic DNA Test
Test type Pediatrics
Pre-test Information Clinical History of Patient who is going for PHOX2A Gene Central hypoventilation syndrome, congenital NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PHOX2A Gene Central hypoventilation syndrome, congenital NGS Genetic DNA Test gene PHOX2A
Report Delivery 3 to 4 Weeks
Components
Price ₹ 20000
Method NGS Technology

PHOX2A Gene Central hypoventilation syndrome, congenital NGS Genetic DNA Test Details


Short Description

NGS genetic DNA test detecets for variant and mutation detection in PHOX2A gene for Central hypoventilation syndrome, congenital

Test Specifications

  • Speciality: Pediatrics

  • Components:

  • Department: Genetics

  • Shipping Stability: Ambient Room Temperature

PreTest Information

Clinical History of Patient who is going for PHOX2A Gene Central hypoventilation syndrome, congenital NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PHOX2A Gene Central hypoventilation syndrome, congenital NGS Genetic DNA Test gene PHOX2A

Detail Description

PHOX2A Gene Central Hypoventilation Syndrome: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

Central hypoventilation syndrome (CHS) is a rare genetic disorder that affects the respiratory system. It is also known as Ondine's curse, named after a mythological figure who was punished by losing the ability to breathe automatically. CHS is caused by a mutation in the PHOX2A gene, which is responsible for the development of the autonomic nervous system.

CHS is a congenital disorder, meaning it is present at birth. The symptoms of CHS usually become apparent in the first few months of life. Infants with CHS may have difficulty breathing, especially during sleep. They may also have a bluish tint to their skin (cyanosis) and a slower heart rate (bradycardia). Infants with CHS may also have difficulty feeding and may require a feeding tube to get proper nutrition.

Diagnosis of CHS involves genetic testing to confirm the presence of a PHOX2A gene mutation. Next-generation sequencing (NGS) is a powerful tool that can be used to sequence the entire PHOX2A gene quickly and accurately. NGS is a type of genetic testing that can detect mutations in multiple genes at once, making it an efficient and cost-effective option for genetic testing.

The cost of NGS genetic DNA testing for CHS in India is typically around INR 20,000. This cost may vary depending on the specific testing facility and any additional testing or counseling that may be required.

If you or a loved one is exhibiting symptoms of CHS, it is important to seek medical attention right away. A diagnosis of CHS can help guide treatment and management of the condition. Additionally, genetic testing can provide valuable information for family planning and genetic counseling.

DNA Labs India is a leading provider of genetic testing services in India. Our team of expert geneticists and counselors can help guide you through the testing process and provide support and guidance every step of the way. Contact us today to learn more about our NGS genetic DNA testing services for CHS.

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 PHOX2A Gene Central hypoventilation syndrome, congenital NGS Genetic DNA Test

Frequently Asked Questions

  • What is the cost of PHOX2A Gene Central hypoventilation syndrome, congenital NGS Genetic DNA Test?

    Cost of PHOX2A Gene Central hypoventilation syndrome, congenital NGS Genetic DNA Test is 20000 Rs

₹20,000.00 ₹28,000.0028% off

Book Now
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  • Ranked India No1 DNA Test Lab
  • Most Trusted Lab by doctors
  • 100% Accurate Test Results