Price:
Rs. 25,200.00
Sample Type: EDTA BLOOD
Fasting Not Required
Notes:H8335
Frequently Asked Questions (FAQ's):
What does this Haemophilia A gene test include?
It covers full F8 gene sequencing along with targeted detection of the intron 22 inversion, performed using advanced NGS at Metropolis Healthcare.
How does Metropolis Healthcare detect the intron 22 inversion?
The lab uses specialized NGS techniques and confirmatory bioinformatics tools to identify this specific structural change accurately.
Who should undergo this genetic test?
Patients with unexplained bleeding symptoms, known family history of Haemophilia A, or suspected carrier females may benefit from the test.
Why is the intron 22 inversion important to detect?
It accounts for nearly half of severe Haemophilia A cases, making its identification crucial for accurate diagnosis and management.
What sample is required for this test?
An EDTA whole blood sample is used to extract DNA for detailed F8 gene analysis.
How long does Metropolis Healthcare take to provide results?
Reports are typically delivered within a few weeks, depending on analysis complexity.
Can this test help in carrier detection?
Yes, it can identify carriers in families with a history of Haemophilia A, aiding reproductive and clinical decision-making.
Does Metropolis Healthcare offer genetic counselling for this test?
Genetic counselling support is available to help patients and families understand results and next steps.