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What Do These Lab Reports Indicate?

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Posted on Tue, 26 Sep 2017
Question: I need a Genetic Counsler to explain a report for me
doctor
Answered by Dr. Diptanshu Das (4 hours later)
Brief Answer:
Slight variation in a couple of genes, nothing of known significance found.

Detailed Answer:
Thanks for asking on HealthcareMagic. Let me mention that there are two types of genetics specialists
* The non-medical PhDs
* The medical doctors trained in genetics
In the medical field, pediatricians have training in the field of medical genetics as genetic abnormalities usually present in childhood.
Being a pediatrician I am therefore competent to answer your query.

I have gone carefully through your query and have checked the attachments. It seems that the subject has been evaluated for the genetics of abnormalities in sexual development or due to abnormal genitalia. The report summarizes the exact gene loci (plural of locus) that are pertinent and have been analyzed. There has been slight variations found in a couple of genes but the variation is not something typical that corresponds to something. Therefore no specific finding of clinical significance has been found in the test. The only thing that has been found is that a couple of genes GNRHR and POR are 'Variant of uncertain significance' (VUS).

I would perhaps be able to help you further if you could provide me of the specifics of why the test was done. I could correlate accordingly.

Let me know if I could help further.

Regards
Above answer was peer-reviewed by : Dr. Raju A.T
doctor
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Follow up: Dr. Diptanshu Das (1 hour later)
Than you so much for explaining my inquiry,
The test was made based on my concern, ive lived all my life feeling that im intersexed, and i wanted to investigate my concern,,, so please doctor i need to make sure about the following:
1- does the attached test covers the SRY Gene (or do i have to repeat it)
2- is there any further tests (lab tests)that i can make to investigate my concern
doctor
Answered by Dr. Diptanshu Das (1 hour later)
Brief Answer:
SRY included in the list of genes analysed

Detailed Answer:
Thanks for writing back. Let me mention that gender identity is a concept entirely different from biological sex. Intersex is actually a very broad intermediate term. There can be individuals who are biologically male and have a male psyche or male gender identity, there can be biological males with female psyche, biological females with male psyche, and so on. This has nothing to do with the biological sex and therefore it is meaningless to seek the answer in the genetics. Not all individuals are 'cisgender' i.e. a person whose gender identity and biological sex assigned at birth align (e.g., man and assigned male at birth). Many individuals are 'closeted' i.e. these individuals are not open to themselves or others about their (queer) sexuality or gender identity. This may be by choice and/or for other reasons such as fear for one’s safety, peer or family rejection or disapproval and/or loss of housing, job, etc. There is a process of 'coming out', the process by which one accepts and/or comes to identify one’s own sexuality or gender identity (to “come out” to oneself). This can be a continual, life-long process. Perhaps you are in such a process.

Coming to your query:
- SRY is covered.
- No further lab tests suggested.

Regards
Note: For detailed guidance on genetic screening consult a genetics specialist

Above answer was peer-reviewed by : Dr. Yogesh D
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Answered by
Dr.
Dr. Diptanshu Das

Pediatrician

Practicing since :2005

Answered : 3876 Questions

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What Do These Lab Reports Indicate?

Brief Answer: Slight variation in a couple of genes, nothing of known significance found. Detailed Answer: Thanks for asking on HealthcareMagic. Let me mention that there are two types of genetics specialists * The non-medical PhDs * The medical doctors trained in genetics In the medical field, pediatricians have training in the field of medical genetics as genetic abnormalities usually present in childhood. Being a pediatrician I am therefore competent to answer your query. I have gone carefully through your query and have checked the attachments. It seems that the subject has been evaluated for the genetics of abnormalities in sexual development or due to abnormal genitalia. The report summarizes the exact gene loci (plural of locus) that are pertinent and have been analyzed. There has been slight variations found in a couple of genes but the variation is not something typical that corresponds to something. Therefore no specific finding of clinical significance has been found in the test. The only thing that has been found is that a couple of genes GNRHR and POR are 'Variant of uncertain significance' (VUS). I would perhaps be able to help you further if you could provide me of the specifics of why the test was done. I could correlate accordingly. Let me know if I could help further. Regards