Sign-in to Ask A Doctor - 24x7
OR
Sign in with Google
Hello Doctor, My Husband Is Suffering From A Genetic Eye
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, my husband has undergone a Genetic test called NGS Panel test for RP. The report is attached. According to the report, he has Homozygous mutation on Gene CERKL(-), which he has inherited from each of his parents.
As we consulted with the Genetic Consultant in XXXXXXX they are in the opinion that there is no need for me to undergo any Genetic test to determine if my child can get the disease inherited.
But I am not satisfied with their opinion, and need to consult another specialist.
Could you please review this report and let me the know the options/possibilities and tests available for myself, in order to be sure that I am not the carrier of the same mutation that my husband has, and the child will not inherit the condition.
Please let me know if we can get on a call to discuss this in more detail.
Thank you.
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, my husband has undergone a Genetic test called NGS Panel test for RP. The report is attached. According to the report, he has Homozygous mutation on Gene CERKL(-), which he has inherited from each of his parents.
As we consulted with the Genetic Consultant in XXXXXXX they are in the opinion that there is no need for me to undergo any Genetic test to determine if my child can get the disease inherited.
But I am not satisfied with their opinion, and need to consult another specialist.
Could you please review this report and let me the know the options/possibilities and tests available for myself, in order to be sure that I am not the carrier of the same mutation that my husband has, and the child will not inherit the condition.
Please let me know if we can get on a call to discuss this in more detail.
Thank you.
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, my husband has undergone a Genetic test called NGS Panel test for RP. The report is attached. According to the report, he has Homozygous mutation on Gene CERKL(-), which he has inherited from each of his parents.
As we consulted with the Genetic Consultant in XXXXXXX they are in the opinion that there is no need for me to undergo any Genetic test to determine if my child can get the disease inherited.
But I am not satisfied with their opinion, and need to consult another specialist.
Could you please review this report and let me the know the options/possibilities and tests available for myself, in order to be sure that I am not the carrier of the same mutation that my husband has, and the child will not inherit the condition.
Please let me know if we can get on a call to discuss this in more detail.
Thank you.
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, my husband has undergone a Genetic test called NGS Panel test for RP. The report is attached. According to the report, he has Homozygous mutation on Gene CERKL(-), which he has inherited from each of his parents.
As we consulted with the Genetic Consultant in XXXXXXX they are in the opinion that there is no need for me to undergo any Genetic test to determine if my child can get the disease inherited.
But I am not satisfied with their opinion, and need to consult another specialist.
Could you please review this report and let me the know the options/possibilities and tests available for myself, in order to be sure that I am not the carrier of the same mutation that my husband has, and the child will not inherit the condition.
Please let me know if we can get on a call to discuss this in more detail.
Thank you.
Brief Answer:
High chance that it would be inherited in subsequent pregnancy.
Detailed Answer:
Thanks for using the Ask a doctor service.
I have gone carefully through he query and have checked the attached report. Retinitis pigmentosa is an autosomal dominant disease which indicates that there is 50% chance that your future offspring will have the disease. However, if your husband is homozygous i.e. if both the genes of that allele are affected, the chance rises to 100%. A Sanger confirmation can be done on you by checking the respective allele in you but it would hardly make a difference.
In other words, the results indicate that there is high likelihood that the disease would be inherited in case of your subsequent pregnancy.
Regards
High chance that it would be inherited in subsequent pregnancy.
Detailed Answer:
Thanks for using the Ask a doctor service.
I have gone carefully through he query and have checked the attached report. Retinitis pigmentosa is an autosomal dominant disease which indicates that there is 50% chance that your future offspring will have the disease. However, if your husband is homozygous i.e. if both the genes of that allele are affected, the chance rises to 100%. A Sanger confirmation can be done on you by checking the respective allele in you but it would hardly make a difference.
In other words, the results indicate that there is high likelihood that the disease would be inherited in case of your subsequent pregnancy.
Regards
Above answer was peer-reviewed by :
Dr. Kampana
Brief Answer:
High chance that it would be inherited in subsequent pregnancy.
Detailed Answer:
Thanks for using the Ask a doctor service.
I have gone carefully through he query and have checked the attached report. Retinitis pigmentosa is an autosomal dominant disease which indicates that there is 50% chance that your future offspring will have the disease. However, if your husband is homozygous i.e. if both the genes of that allele are affected, the chance rises to 100%. A Sanger confirmation can be done on you by checking the respective allele in you but it would hardly make a difference.
In other words, the results indicate that there is high likelihood that the disease would be inherited in case of your subsequent pregnancy.
Regards
High chance that it would be inherited in subsequent pregnancy.
Detailed Answer:
Thanks for using the Ask a doctor service.
I have gone carefully through he query and have checked the attached report. Retinitis pigmentosa is an autosomal dominant disease which indicates that there is 50% chance that your future offspring will have the disease. However, if your husband is homozygous i.e. if both the genes of that allele are affected, the chance rises to 100%. A Sanger confirmation can be done on you by checking the respective allele in you but it would hardly make a difference.
In other words, the results indicate that there is high likelihood that the disease would be inherited in case of your subsequent pregnancy.
Regards
Above answer was peer-reviewed by :
Dr. Kampana
Hello Dr.
Thank you for your response.
The type that my husband has is Autosomal Recessive inheritance, where both the copies of mutated gene are recessive. So, the child will be a carrier of the disease for sure, but can be affected only if I am also a carrier of the same mutation in the same gene, which as per our consultants is highly unlikely scenario (like 0.01%). And as per them, I need not go for the test as the risk of child having the disease is too low.
But still to avoid that fractional 0.01% of possibility, I wanted to go for the test.
So, could you please suggest if Sanger sequencing for that particular allele in myself would be helpful, or I should go for a whole NGS Panel test which was conducted for my husband.
Thank you for your response.
The type that my husband has is Autosomal Recessive inheritance, where both the copies of mutated gene are recessive. So, the child will be a carrier of the disease for sure, but can be affected only if I am also a carrier of the same mutation in the same gene, which as per our consultants is highly unlikely scenario (like 0.01%). And as per them, I need not go for the test as the risk of child having the disease is too low.
But still to avoid that fractional 0.01% of possibility, I wanted to go for the test.
So, could you please suggest if Sanger sequencing for that particular allele in myself would be helpful, or I should go for a whole NGS Panel test which was conducted for my husband.
Hello Dr.
Thank you for your response.
The type that my husband has is Autosomal Recessive inheritance, where both the copies of mutated gene are recessive. So, the child will be a carrier of the disease for sure, but can be affected only if I am also a carrier of the same mutation in the same gene, which as per our consultants is highly unlikely scenario (like 0.01%). And as per them, I need not go for the test as the risk of child having the disease is too low.
But still to avoid that fractional 0.01% of possibility, I wanted to go for the test.
So, could you please suggest if Sanger sequencing for that particular allele in myself would be helpful, or I should go for a whole NGS Panel test which was conducted for my husband.
Thank you for your response.
The type that my husband has is Autosomal Recessive inheritance, where both the copies of mutated gene are recessive. So, the child will be a carrier of the disease for sure, but can be affected only if I am also a carrier of the same mutation in the same gene, which as per our consultants is highly unlikely scenario (like 0.01%). And as per them, I need not go for the test as the risk of child having the disease is too low.
But still to avoid that fractional 0.01% of possibility, I wanted to go for the test.
So, could you please suggest if Sanger sequencing for that particular allele in myself would be helpful, or I should go for a whole NGS Panel test which was conducted for my husband.
Brief Answer:
Sanger sequencing is all you need
Detailed Answer:
All you need is a Sanger sequencing of the affected allele and that would confirm if you are a carrier for the affected gene. There is no need to go for full NGS.
Regards
Sanger sequencing is all you need
Detailed Answer:
All you need is a Sanger sequencing of the affected allele and that would confirm if you are a carrier for the affected gene. There is no need to go for full NGS.
Regards
Above answer was peer-reviewed by :
Dr. Prasad
Brief Answer:
Sanger sequencing is all you need
Detailed Answer:
All you need is a Sanger sequencing of the affected allele and that would confirm if you are a carrier for the affected gene. There is no need to go for full NGS.
Regards
Sanger sequencing is all you need
Detailed Answer:
All you need is a Sanger sequencing of the affected allele and that would confirm if you are a carrier for the affected gene. There is no need to go for full NGS.
Regards
Note: For detailed guidance on genetic screening consult a genetics specialist
Above answer was peer-reviewed by :
Dr. Prasad
Answered by
Get personalised answers from verified doctor in minutes across 80+ specialties
