HSPG2 Gene Dyssegmental dysplasia, Silverman-Handmaker type NGS Genetic DNA Test

HSPG2 Gene Dyssegmental dysplasia, Silverman-Handmaker type NGS Genetic DNA Test

Disease: Osteology Dermatology Immunology Disorders

Method: NGS Technology

DNA Labs India is Ranked as No1 genetic DNA Test lab- 3500 Sample collection centers across India Call 07941057551 to talk with Doctor to get second opinion for free of cost - 100% All Conversation are private and confidential

Call 07941057551 Dr Vijaya

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 HSPG2 Gene Dyssegmental dysplasia, Silverman-Handmaker type NGS Genetic DNA Test ?

Book Now
  • 3500 Sample collection centers, Free Home Sample collection for HSPG2 Gene Dyssegmental dysplasia, Silverman-Handmaker type NGS Genetic DNA Test in your city
  • Ranked India No1 DNA Test Lab for HSPG2 Gene Dyssegmental dysplasia, Silverman-Handmaker type NGS Genetic DNA Test
  • Most Trusted Lab by doctors for HSPG2 Gene Dyssegmental dysplasia, Silverman-Handmaker type NGS Genetic DNA Test. Call 07941057551 to talk with Doctor to get second opinion for free of cost
  • 100% All Conversation are private and confidential Call 07941057551 to talk with doctor 100% Accurate Test Results for HSPG2 Gene Dyssegmental dysplasia, Silverman-Handmaker type NGS Genetic DNA Test

HSPG2 Gene Dyssegmental dysplasia, Silverman-Handmaker type NGS Genetic DNA Test Cost 20000 Rs


Test Name HSPG2 Gene Dyssegmental dysplasia, Silverman-Handmaker type NGS Genetic DNA Test
Test type Dermatologist
Pre-test Information Clinical History of Patient who is going for HSPG2 Gene Dyssegmental dysplasia, Silverman-Handmaker type NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with HSPG2 Gene Dyssegmental dysplasia, Silverman-Handmaker type NGS Genetic DNA Test gene HSPG2
Report Delivery 3 to 4 Weeks
Components
Price ₹ 20000
Method NGS Technology

HSPG2 Gene Dyssegmental dysplasia, Silverman-Handmaker type NGS Genetic DNA Test Details


Short Description

NGS genetic DNA test detecets for variant and mutation detection in HSPG2 gene for Dyssegmental dysplasia, Silverman-Handmaker type

Test Specifications

  • Speciality: Dermatologist

  • Components:

  • Department: Genetics

  • Shipping Stability: Ambient Room Temperature

PreTest Information

Clinical History of Patient who is going for HSPG2 Gene Dyssegmental dysplasia, Silverman-Handmaker type NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with HSPG2 Gene Dyssegmental dysplasia, Silverman-Handmaker type NGS Genetic DNA Test gene HSPG2

Detail Description

DNA Labs India: HSPG2 Gene Dyssegmental Dysplasia, Silverman-Handmaker Type NGS Genetic DNA Test

Introduction

Dyssegmental dysplasia, Silverman-Handmaker type is a rare genetic disorder that affects bone and cartilage development. It is caused by mutations in the HSPG2 gene, which provides instructions for making a protein called perlecan. Perlecan is important for the formation and maintenance of cartilage and bone tissues. NGS (next-generation sequencing) genetic DNA testing is a powerful tool for diagnosing genetic disorders like dyssegmental dysplasia. DNA Labs India offers an NGS genetic DNA test for HSPG2 gene dyssegmental dysplasia, Silverman-Handmaker type, at a cost of INR 20,000. In this blog post, we will discuss the symptoms and diagnosis of dyssegmental dysplasia, Silverman-Handmaker type, and explain how DNA Labs India's NGS genetic DNA test can help diagnose this rare genetic disorder.

Symptoms

Dyssegmental dysplasia, Silverman-Handmaker type is a skeletal dysplasia, which means it affects the development of bones and cartilage. The symptoms of dyssegmental dysplasia can vary widely, even among individuals with the same genetic mutation. Some common symptoms of dyssegmental dysplasia, Silverman-Handmaker type include:
  • Short stature
  • Disproportionately short arms and legs
  • Abnormal curvature of the spine (scoliosis or kyphosis)
  • Abnormal curvature of the limbs (genu valgum or genu varum)
  • Abnormal development of the pelvis and hip joints
  • Facial abnormalities, including a small chin and a flattened midface
  • Respiratory problems
These symptoms can range from mild to severe, and may become more pronounced over time. Some individuals with dyssegmental dysplasia may also develop arthritis or other joint problems as they get older.

Diagnosis

Diagnosing dyssegmental dysplasia, Silverman-Handmaker type can be challenging, as it is a rare genetic disorder and its symptoms can be similar to other skeletal dysplasias. However, there are several diagnostic tests that can help confirm a diagnosis. Physical examination: A doctor may perform a physical examination to look for the characteristic symptoms of dyssegmental dysplasia, such as short stature, abnormal limb curvature, and facial abnormalities. X-rays: X-rays can show abnormalities in bone and cartilage development, such as shortening of the long bones, abnormal curvature of the spine or limbs, and abnormal development of the pelvis and hip joints. Genetic testing: Genetic testing can confirm a diagnosis of dyssegmental dysplasia, Silverman-Handmaker type. DNA Labs India offers an NGS genetic DNA test for HSPG2 gene dyssegmental dysplasia, Silverman-Handmaker type, at a cost of INR 20,000. This test can detect mutations in the HSPG2 gene that are associated with dyssegmental dysplasia, and can help confirm a diagnosis in individuals with suspected or confirmed symptoms of the disorder.

Conclusion

Dyssegmental dysplasia, Silverman-Handmaker type is a rare genetic disorder that affects bone and cartilage development. The symptoms of dyssegmental dysplasia can vary widely, even among individuals with the same genetic mutation. However, there are several diagnostic tests that can help confirm a diagnosis, including physical examination, X-rays, and genetic testing. DNA Labs India offers an NGS genetic DNA test for HSPG2 gene dyssegmental dysplasia, Silverman-Handmaker type, at a cost of INR 20,000. This test can help diagnose this rare genetic disorder and provide valuable information for individuals and families affected by dyssegmental dysplasia.

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 HSPG2 Gene Dyssegmental dysplasia, Silverman-Handmaker type NGS Genetic DNA Test

Frequently Asked Questions

  • What is the cost of HSPG2 Gene Dyssegmental dysplasia, Silverman-Handmaker type NGS Genetic DNA Test?

    Cost of HSPG2 Gene Dyssegmental dysplasia, Silverman-Handmaker type NGS Genetic DNA Test is 20000 Rs

₹20,000.00 ₹28,000.0028% off

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