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Where Can I Get Genetic Testing?

By: Ian Murnaghan BSc (hons), MSc - Updated: 15 Jan 2017 | comments*Discuss
 
Congenital Adrenal Hyperplasia Cah

Q.

I`ve had several 24 hour urines that say I`ve CAH (Congenital Adrenal Hyperplasia), but the consultant has ignored this fact.

Where can I get genetic testing?

(Mrs carol rae, 15 December 2008)

A.

People with CAH do not have the enzyme required for the adrenal gland to manufacture a number of important hormones. Without these hormones, a person's body will make more male sex hormones known as androgens. As a result, male characteristics occur earlier and are more prominent in men and women.

I'm glad that you sought out a doctor's diagnosis of your symptoms, which appear to have led to your urine tests. When you state that the tests say you have CAH – yet the consultant ignores this fact – I'm not sure if you are self-diagnosing based on the results.

There are a number of different tests for blood and urine, which will measure the levels of hormones in the adrenal glands. These include cortisol, aldosterone and androgens. A diagnosis of CAH is typically made after a physical exam, symptom evaluation and also when these tests are abnormal. Genetic testing is mostly used if there are questionable results from other forms of testing. Instead, the main use for genetic testing is for family planning purposes.

If you feel that you have CAH and your consultant has not provided this diagnosis, then you should seek a second opinion. Treatment for CAH usually involves medication that must be taken for life.

In terms of genetic testing, if you want this testing for family planning, you should be commended for taking a proactive step to obtain this kind of testing. Some forms of CAH can be severe and can cause an adrenal crisis in a newborn, which occurs from salt loss. For this reason, if you do indeed have CAH – particularly if you have a family history of the disorder as well – you should speak to a doctor about genetic counselling.

If you do become pregnant and have a history of CAH, a diagnosis can generally be made in the second trimester. This test is performed through the measurement of hormones in the amniotic fluid. Newborns can also be screened and this testing is routine is some areas of the world.

To summarise, how you approach genetic testing will depend on the results of your initial urine tests and a qualified doctor who can interpret these and determine if you actually need genetic testing. Any wish to become pregnant could be affected by the diagnosis, so it's a good idea to consider genetic counselling.

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[Add a Comment]
My dad passed away and I need his DNA.He died in 2012 and I do have a false tooth of his.Can I get his DNA from this tooth?If I can who would I contact to do this. Thank you
Brie - 15-Jan-17 @ 5:51 AM
My SIL wanted to have DNA tests for genealogy done on her deceased father. We had buccal swabs ,hair and nail collected. Where can we getthis type of DNA testing done with what we have? The specimens are 3 days old. Air dried in paper bag.
Daughter in law - 8-Dec-16 @ 5:13 PM
Bhing - Your Question:
I had a friend his son passaway and his wanted to have a baby that identical to that son.now my question is if I had some stuff from him to do dna testing is it possible to grow a baby using his dna? Pls help me. Thank you very much

Our Response:
"Cloning" is not legal in this country - so it would not be possible.
ExploreDNA - 9-May-16 @ 10:10 AM
I had a friend his son passaway and his wanted to have a baby that identical to that son .now my questionis if I had some stuff from him to do dna testing is it possible to grow a baby using his dna? Pls help me. Thank you very much
Bhing - 6-May-16 @ 12:55 AM
seamas - Your Question:
Even after reading your website, I am confused if you can get a persons DNA from their ashes. One answer to a question said no because of the extreme heat. Then other answers say to consult a testing agency. Can you please provide me with the correct answer. Thank you in advance

Our Response:
Usually you can only get sufficient DNA to test after cremation if parts such as bone have been left intact.
ExploreDNA - 6-Aug-15 @ 12:37 PM
Even after reading your website, I am confused if you can get a persons DNA from their ashes.One answer to a question said no because of the extreme heat.Then other answers say to consult a testing agency.Can you please provide me with the correct answer.Thank you in advance
seamas - 6-Aug-15 @ 1:42 AM
@rosebunny. Unfortunately this will not be possible via DNA testing really unless there is some of his DNA stored from when he was alive.Your best hope is some documentation/family records that might prove he was your father.
ExploreDNA - 3-Mar-15 @ 2:34 PM
my dad passed away his family cremated him i was notified of his death after this i am a sole daughter of him but now i have no birth certificate with his name on it only my mothers name . who do i obtain a dna ,from some one that is passed on and cremated . how can i prove that i am his daughter ? please help me .
rosebunny - 27-Feb-15 @ 11:45 PM
i was adopted at the time i didn't have ant document so my parents gave me an age how can i know my real age ?
mimi - 2-Dec-12 @ 12:26 AM
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