Short Description

AAAS Full Gene Sequence Analysis (Allogrove Syndrome) 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

AAAS Full Gene Sequence Analysis (Allogrove Syndrome) 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

AAAS Full Gene Sequence Analysis (Allogrove Syndrome) Cost INR: 30000 Symptoms Diagnosis

Allogrove Syndrome is a rare genetic disorder that affects multiple body systems, including the immune system, endocrine system, and nervous system. It is caused by mutations in the AAAS gene, which provides instructions for making a protein called ALADIN. This protein is involved in the transport of molecules within cells.

Symptoms of Allogrove Syndrome

Allogrove Syndrome is characterized by a wide range of symptoms that can vary in severity and onset. Some common symptoms include:

• Delayed growth and development
• Low blood sugar (hypoglycemia)
• Weakness and fatigue
• Difficulty swallowing
• Enlarged liver (hepatomegaly)
• Enlarged spleen (splenomegaly)
• Increased susceptibility to infections
• Abnormal curvature of the spine (scoliosis)
• Abnormal pigmentation of the skin
• Abnormal eye movements

Diagnosis of Allogrove Syndrome

Diagnosis of Allogrove Syndrome can be difficult due to its rarity and the wide range of symptoms it presents. However, a genetic test can be done to confirm the presence of mutations in the AAAS gene. The most accurate test is the AAAS Full Gene Sequence Analysis, which examines the entire gene for mutations.

Cost of AAAS Full Gene Sequence Analysis

The cost of AAAS Full Gene Sequence Analysis for Allogrove Syndrome in India is INR 30000. This test is not covered by insurance and is typically paid for out of pocket.

Conclusion

Allogrove Syndrome is a rare genetic disorder with a wide range of symptoms that can make diagnosis difficult. However, the AAAS Full Gene Sequence Analysis is an accurate test that can confirm the presence of mutations in the AAAS gene. Though it can be expensive, it is an important step in obtaining a diagnosis and developing a treatment plan.

For more information on Allogrove Syndrome and genetic testing, contact DNA Labs India.