Test Name	TRIP11 Gene Achondrogenesis type 1A NGS Genetic DNA Test
Test type	Dermatologist
Pre-test Information	Clinical History of Patient who is going for TRIP11 Gene Achondrogenesis type 1A NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TRIP11 Gene Achondrogenesis type 1A NGS Genetic DNA Test gene TRIP11
Report Delivery	3 to 4 Weeks
Components
Price	₹ 20000
Method	NGS Technology

Short Description

NGS genetic DNA test detecets for variant and mutation detection in TRIP11 gene for Achondrogenesis type 1A

PreTest Information

Clinical History of Patient who is going for TRIP11 Gene Achondrogenesis type 1A NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TRIP11 Gene Achondrogenesis type 1A NGS Genetic DNA Test gene TRIP11

Detail Description

TRIP11 Gene Achondrogenesis type 1A NGS Genetic DNA Test

Introduction:

TRIP11 Gene Achondrogenesis type 1A NGS Genetic DNA Test is a genetic test that helps in the diagnosis of Achondrogenesis type 1A, a rare genetic disorder. This disorder affects the development of bones and cartilage in the body, resulting in short limbs and a small body size. The TRIP11 gene is responsible for the production of a protein that is essential for bone and cartilage development. Mutations in this gene can lead to the development of Achondrogenesis type 1A.

Symptoms:

The symptoms of Achondrogenesis type 1A include:

• Short limbs
• Small body size
• Abnormal curvature of the spine
• Narrow chest
• Breathing difficulties
• Joints that are stiff and immobile
• Underdeveloped lungs
• Small head
• Large forehead
• Wide-set eyes
• Low-set ears
• Cleft palate

Diagnosis:

Achondrogenesis type 1A can be diagnosed through genetic testing. The TRIP11 Gene Achondrogenesis type 1A NGS Genetic DNA Test is a comprehensive genetic test that can detect mutations in the TRIP11 gene. This test uses Next-Generation Sequencing (NGS) technology to analyze the DNA sample and identify any mutations in the TRIP11 gene.

Cost:

The cost of the TRIP11 Gene Achondrogenesis type 1A NGS Genetic DNA Test in India is INR 20,000.

Conclusion:

TRIP11 Gene Achondrogenesis type 1A NGS Genetic DNA Test is a valuable tool for the diagnosis of Achondrogenesis type 1A. It can detect mutations in the TRIP11 gene, which is responsible for the development of bones and cartilage in the body. Early diagnosis of Achondrogenesis type 1A can help in the management of symptoms and improve the quality of life for affected individuals. If you suspect that you or your child may have Achondrogenesis type 1A, consult a genetic counselor to discuss the possibility of undergoing the TRIP11 Gene Achondrogenesis type 1A NGS Genetic DNA Test.

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 TRIP11 Gene Achondrogenesis type 1A NGS Genetic DNA Test