Short Description

Achondroplasia (FGFR3 full gene sequence analysis) is performed using Sanger Sequencing methodology. Sample that have to be given is Peripheral blood/Amniotic Fluid/ Chorionic villi/ Cord blood in Sterile container/ Sterile Normal Saline Container/ EDTA Vacutainer (2ml) for this test. You can expect results in 2-3 weeks

PreTest Information

Achondroplasia (FGFR3 full gene sequence analysis) can be done with a Doctor’s prescription. Prescription is not applicable for surgery and pregnancy cases or people planing to travel abroad.

Detail Description

Achondroplasia (FGFR3 full gene sequence analysis) cost INR:30000 symptoms diagnosis

Achondroplasia is a genetic disorder that affects bone growth and causes short stature. It is caused by a mutation in the FGFR3 gene, which is responsible for regulating bone growth. The mutation leads to abnormal bone growth and development, particularly in the arms, legs, and skull.

Symptoms of Achondroplasia

The most noticeable symptom of achondroplasia is short stature. Infants with achondroplasia have normal-sized heads and torsos but short arms and legs. Other symptoms include:

• Bowed legs
• Limited range of motion in elbows
• Lumbar lordosis (swayback)
• Prominent forehead
• Short fingers
• Tightened joints

Diagnosis of Achondroplasia

Achondroplasia can be diagnosed before or after birth. Prenatal diagnosis can be done through chorionic villus sampling or amniocentesis. After birth, diagnosis is based on physical examination and X-rays. Genetic testing can confirm the diagnosis by identifying the FGFR3 mutation.

FGFR3 Full Gene Sequence Analysis

FGFR3 full gene sequence analysis is a genetic test that looks for mutations in the FGFR3 gene. This test is used to confirm a diagnosis of achondroplasia or to identify carriers of the mutation. The test analyzes the entire FGFR3 gene, which includes all exons and introns. This comprehensive analysis is important because mutations can occur anywhere in the gene.

Cost of FGFR3 Full Gene Sequence Analysis

The cost of FGFR3 full gene sequence analysis in India is around INR 30,000. This cost may vary depending on the laboratory and the specific tests included in the analysis. Some laboratories may offer a panel of tests that includes other genetic disorders that affect bone growth and development.

Conclusion

Achondroplasia is a genetic disorder that affects bone growth and causes short stature. It is caused by a mutation in the FGFR3 gene, which can be identified through FGFR3 full gene sequence analysis. This test is important for confirming a diagnosis of achondroplasia and identifying carriers of the mutation. The cost of the test in India is around INR 30,000, but this may vary depending on the laboratory and tests included.

If you suspect that you or your child may have achondroplasia, speak to your doctor about genetic testing options. Early diagnosis and management can help improve quality of life and prevent complications.

For more information on genetic testing and other laboratory services, visit DNA Labs India.