Short Description

NGS genetic DNA test detecets for variant and mutation detection in CCDC28B gene for Bardet-Biedl syndrome, modifier of, CCDC28B related

PreTest Information

Clinical History of Patient who is going for CCDC28B Gene Bardet-Biedl syndrome, modifier of, CCDC28B related NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CCDC28B Gene Bardet-Biedl syndrome, modifier of, CCDC28B related NGS Genetic DNA Test gene CCDC28B

Detail Description

CCDC28B Gene and Bardet-Biedl Syndrome: Symptoms, Diagnosis and Genetic Testing Cost in India

Introduction

Bardet-Biedl Syndrome (BBS) is a rare genetic disorder that affects multiple organs and systems in the body. It is characterized by a range of symptoms including obesity, vision loss, kidney dysfunction, developmental delays, and genital abnormalities.

The CCDC28B gene has been identified as a modifier of BBS, meaning that variations in this gene can affect the severity and presentation of the syndrome.

Symptoms

The symptoms of BBS can vary widely between individuals, even within the same family. Some common symptoms include:

• Obesity, especially in the trunk and abdomen
• Vision loss or blindness
• Kidney dysfunction
• Developmental delays and intellectual disability
• Abnormalities of the genitalia
• Speech and language difficulties
• Extra fingers or toes

Not all individuals with BBS will have all of these symptoms, and some may experience additional symptoms not listed here.

Diagnosis

Diagnosis of BBS typically involves a thorough clinical evaluation, including a physical exam, medical history, and assessment of symptoms. Genetic testing may also be used to confirm a diagnosis.

NGS genetic DNA testing can identify variations in the CCDC28B gene that may be contributing to BBS or related conditions. This testing can also help to determine the severity of the condition and inform treatment decisions.

Genetic Testing Cost

The cost of NGS genetic DNA testing for CCDC28B related conditions in India is approximately INR 20,000. This cost may vary depending on the specific testing facility and any additional services or consultations required.

While genetic testing can be expensive, it can provide valuable information for individuals and families affected by BBS. Testing can help to confirm a diagnosis, inform treatment decisions, and provide information for family planning.