Short Description

NGS genetic DNA test detecets for variant and mutation detection in GP1BB gene for Bernard Soulier syndrome type B

PreTest Information

Clinical History of Patient who is going for GP1BB Gene Bernard Soulier syndrome type B NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with GP1BB Gene Bernard Soulier syndrome type B NGS Genetic DNA Test gene GP1BB

Detail Description

GP1BB Gene Bernard Soulier syndrome type B NGS Genetic DNA Test

Bernard-Soulier syndrome type B (BSSB) is a rare bleeding disorder caused by mutations in the GP1BB gene. This gene provides instructions for making a protein called glycoprotein Ib alpha (GPIbα), which is found on the surface of platelets. Platelets are blood cells that help form blood clots to stop bleeding.

The NGS Genetic DNA Test for GP1BB Gene Bernard Soulier syndrome type B is a diagnostic test that uses next-generation sequencing (NGS) technology to identify mutations in the GP1BB gene. This test is used to confirm a suspected diagnosis of BSSB or to identify carriers of the mutation in families with a history of the disorder.

Symptoms of Bernard Soulier syndrome type B

People with BSSB have a bleeding tendency that can range from mild to severe. The bleeding tendency is due to a defect in platelet function, which results in abnormal bleeding after injury or surgery. Symptoms of BSSB include:

• Easy bruising
• Nosebleeds
• Heavy menstrual bleeding
• Prolonged bleeding after injury or surgery

Diagnosis of Bernard Soulier syndrome type B

The diagnosis of BSSB is based on clinical symptoms, family history, and laboratory tests. Laboratory tests may include:

• Complete blood count (CBC)
• Bleeding time test
• Platelet function tests
• Genetic testing

The NGS Genetic DNA Test for GP1BB Gene Bernard Soulier syndrome type B is a highly accurate diagnostic test that can detect mutations in the GP1BB gene.

Cost of NGS Genetic DNA Test for GP1BB Gene Bernard Soulier syndrome type B

The cost of the NGS Genetic DNA Test for GP1BB Gene Bernard Soulier syndrome type B at DNA Labs India is INR 20,000. This cost includes the test kit, sample collection, DNA sequencing, and interpretation of results.

If you suspect that you or a family member may have Bernard Soulier syndrome type B, it is important to seek medical advice and genetic counseling. DNA Labs India offers a range of genetic testing services, including the NGS Genetic DNA Test for GP1BB Gene Bernard Soulier syndrome type B, to help diagnose and manage genetic disorders.

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 GP1BB Gene Bernard Soulier syndrome type B NGS Genetic DNA Test