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What Kind Of Genetic Tests Are Available For Retinitis Pigmentosa?
Question: Hello Doctor,
My husband is suffering from a Genetic eye disease called "Retinitis Pigmentosa".We are now planning to have a baby, and knowing the fact that the disease can be inherited by the child, we wanted to know about some Genetic tests available to check the chances of inheritance. It would be very helpful if you could guide us in following questions -
1. What kind of Genetic tests are available for this disease?
2. What will be cost of these tests, and are they covered under my Bajaj Allianz Policy?
3. What is the success rate of such tests, meaning, if we go for the test, what are the chances that the results will clear or conclusive?
4. Any other suggestions or recommendations.
My husband is suffering from a Genetic eye disease called "Retinitis Pigmentosa".We are now planning to have a baby, and knowing the fact that the disease can be inherited by the child, we wanted to know about some Genetic tests available to check the chances of inheritance. It would be very helpful if you could guide us in following questions -
1. What kind of Genetic tests are available for this disease?
2. What will be cost of these tests, and are they covered under my Bajaj Allianz Policy?
3. What is the success rate of such tests, meaning, if we go for the test, what are the chances that the results will clear or conclusive?
4. Any other suggestions or recommendations.
Brief Answer:
The panel assay is quite costly.
Detailed Answer:
Hi,
1. Retinitis Pigmentosa Panel test consisting of 110 gene panel assay is available. This is the test that your husband needs to undergo in the first place. Retinitis pigmentosa can be inherited in autosomal dominant, autosomal recessive or X-linked. So, the exact nature of problem needs to be identified to be able to understand the possible outcomes in the off springs.
2. The test costs about Rs.40,000/- and I do not think that your policy under Bajaj Allianz would cover for that. Nevertheless, if they are paying for the treatment of retinitis pigmentosa and if the doctor mandates the test as necessary for further treatment, they would perhaps cover for it. Discuss with the treating physician.
3. This is not about success rate. It is about systematically ruling out the possibility of the disease in the off springs, and in case they are prenatally detected to have the disease, to opt for termination of pregnancy. The tests are likely to be conclusive about the probability of transmission.
4. If you are in a position to bear the costs, I would strongly insist you to go for it. Also be sure to opt for genetic counselling.
Feel free to write back.
Regards
The panel assay is quite costly.
Detailed Answer:
Hi,
1. Retinitis Pigmentosa Panel test consisting of 110 gene panel assay is available. This is the test that your husband needs to undergo in the first place. Retinitis pigmentosa can be inherited in autosomal dominant, autosomal recessive or X-linked. So, the exact nature of problem needs to be identified to be able to understand the possible outcomes in the off springs.
2. The test costs about Rs.40,000/- and I do not think that your policy under Bajaj Allianz would cover for that. Nevertheless, if they are paying for the treatment of retinitis pigmentosa and if the doctor mandates the test as necessary for further treatment, they would perhaps cover for it. Discuss with the treating physician.
3. This is not about success rate. It is about systematically ruling out the possibility of the disease in the off springs, and in case they are prenatally detected to have the disease, to opt for termination of pregnancy. The tests are likely to be conclusive about the probability of transmission.
4. If you are in a position to bear the costs, I would strongly insist you to go for it. Also be sure to opt for genetic counselling.
Feel free to write back.
Regards
Note: For detailed guidance on genetic screening consult a genetics specialist
Above answer was peer-reviewed by :
Dr. Prasad
Answered by
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