CHD7 Gene CHARGE syndrome NGS Genetic DNA Test Cost 20000 Rs

CHD7 Gene CHARGE syndrome NGS Genetic DNA Test

CHD7 Gene CHARGE syndrome 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
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CHD7 Gene CHARGE syndrome NGS Genetic DNA Test Cost 20000 Rs

Test Name CHD7 Gene CHARGE syndrome NGS Genetic DNA Test
Test type Pediatrics
Pre-test Information Clinical History of Patient who is going for CHD7 Gene CHARGE syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CHD7 Gene CHARGE syndrome NGS Genetic DNA Test gene CHD7
Report Delivery 3 to 4 Weeks
Components
Price ₹ 20000
Method NGS Technology

CHD7 Gene CHARGE syndrome NGS Genetic DNA Test Details

Short Description

NGS genetic DNA test detecets for variant and mutation detection in CHD7 gene for CHARGE syndrome

Test Specifications

  • Speciality: Pediatrics

  • Components:

  • Department: Genetics

  • Shipping Stability: Ambient Room Temperature

PreTest Information

Clinical History of Patient who is going for CHD7 Gene CHARGE syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CHD7 Gene CHARGE syndrome NGS Genetic DNA Test gene CHD7

Detail Description

CHD7 Gene CHARGE Syndrome NGS Genetic DNA Test Cost INR:20000

CHD7 gene is responsible for the production of a protein that plays an essential role in the normal development of various organs and tissues in the body. Mutations in this gene can lead to CHARGE syndrome, a genetic disorder that affects many parts of the body.

CHARGE syndrome is an acronym for the various birth defects that are commonly associated with this condition:

  • Coloboma (an eye abnormality)
  • Heart defects
  • Atresia choanae (blockage of the nasal passage)
  • Retardation of growth and development
  • Genital and urinary abnormalities
  • Ear abnormalities and deafness

Other symptoms of CHARGE syndrome may include facial palsy, cleft lip and/or palate, and feeding difficulties. The severity of the symptoms can vary widely among affected individuals, even among members of the same family.

Diagnosis of CHARGE syndrome is based on clinical examination and genetic testing. The CHD7 gene is the most commonly affected gene in individuals with CHARGE syndrome, and testing for mutations in this gene can help to confirm a diagnosis. NGS (Next Generation Sequencing) Genetic DNA Test is a highly accurate and sensitive method of detecting genetic mutations and abnormalities. This test can help to identify CHD7 gene mutations and diagnose CHARGE syndrome.

At DNA Labs India, the cost of NGS Genetic DNA Test for CHD7 Gene CHARGE Syndrome is INR 20,000. Our team of experienced genetic counselors and scientists can help you understand the test results and provide guidance on the appropriate course of action.

Contact DNA Labs India to learn more about the CHD7 Gene CHARGE Syndrome NGS Genetic DNA Test.

CHARGE syndrome is characterized by a range of features, including:

  1. Coloboma: Eye abnormalities, particularly coloboma (a gap or split in the structures of the eye), may be present.
  2. Heart defects: Congenital heart defects can occur.
  3. Atresia choanae: This refers to a narrowing or blockage of the back of the nasal passage.
  4. Retardation of growth and development: Developmental delays and growth deficiencies are common.
  5. Genital and urinary abnormalities: Genital and urinary anomalies can occur.
  6. Ear abnormalities and deafness: Ear abnormalities and hearing loss are frequent features.
  7. Characteristic facial features: Certain distinctive facial features can be observed in individuals with CHARGE syndrome.

Mutations in the CHD7 gene are the major cause of CHARGE syndrome. The CHD7 gene is involved in the regulation of gene expression and plays a crucial role in the development of various body systems.

NGS (Next-Generation Sequencing) genetic DNA tests can be used to analyze the DNA sequence of the CHD7 gene to identify any mutations or variants that may be associated with CHARGE syndrome.

If you or someone you know is considering genetic testing for CHARGE syndrome related to the CHD7 gene, I recommend consulting with a clinical geneticist, a paediatrician, or a genetic counsellor. They can provide accurate and current information about the condition, the implications of genetic testing, and any available treatment or management options. Medical knowledge can evolve, so it's important to rely on expert guidance for the latest information.

Frequently Asked Questions

  • What is the cost of CHD7 Gene CHARGE syndrome NGS Genetic DNA Test?

    Cost of CHD7 Gene CHARGE syndrome NGS Genetic DNA Test is 20000 Rs

₹20,000.00 ₹28,000.0028% off

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