L2HGA L2 hydroxyglutaric aciduria - Bull Terrier
What is the L2HGA L2 hydroxyglutaric aciduria ?
The L2HGA genetic disease causes high levels of L2 hydroxy glutaric acid in the urine, in the cerebrospinal liquid and in the plasma.
The L2hga disease is mainly a nervous disease with first signs that appear between the age of 6 months and 1 year. But the symptoms can appear very late to the age of 7 years.
The symptoms of this disease are stiffness muscle after exercise with tremors. Sometimes epileptic episodes are observed and especially a lack of balance and motor coordination.
This disease is incurable and affected animals are usually euthanize fairly quickly.
Realization of the genetic test
Available breeds for the test : L2HGA L2 hydroxyglutaric aciduria – Bull Terrier
The following breeds are recognized :
- Autre Race
- Staffordshire Bull Terrier
Understanding results of the test : L2HGA L2 hydroxyglutaric aciduria – Bull Terrier
Gene Mutation : L2HGDH c.1297T>C c.1299C>T
Heredity : autosomal recessive (more information)
|Test result||L2HGA L2 hydroxyglutaric aciduria – Bull Terrier status (L2HGDH c.1297T>C c.1299C>T)||Health status|
|N/N||No copy of the L2HGA mutation||Animal is normal (clear)|
|N/L2HGA||1 copy of the L2HGA mutation||Animal is normal (clear)|
|L2HGA/L2HGA||2 copies of the L2HGA mutation||Animal is, will or could be affected|
Cross table of the test : L2HGA L2 hydroxyglutaric aciduria – Bull Terrier
|Mother N/N||Mother N/L2HGA||Mother L2HGA/L2HGA|
|Father N/N||100% N/N||50% N/N|
|Father N/L2HGA||50% N/N|
|Father L2HGA/L2HGA||100% N/L2HGA||50% N/L2HGA|
Certificate example for the test : L2HGA L2 hydroxyglutaric aciduria – Bull Terrier
Click on the example certificate below to open it.
Penderis J., Clavin J., Abramson C., Jakobs C., Pettitt L., Binns M. M., Vehoeven N. M., O´Driscoll E., Platt S. R., Mellerexh C. S.: L-2-hydroxyglutaric aciduria: characterisation of the molecular defect in a spontaneous canine model. J Med Genet 2007;44:334-340.
Böhm M1, Henderson H, Van der Zwan H, Basson S. L-2 hydroxyglutaric aciduria in a South African Staffordshire Bull Terrier. J S Afr Vet Assoc. 2014 May 13;85(1):1042.
1- Order DNA test on the website
To order a DNA test, simply add it to your shopping cart on the website.
You can then validate your basket.
At this validation step, you can either pay immediately with a bank card, or pay later by bank transfer or check.
For payment by check, you can send your check when you return your samples.
A sample received will not be processed if we do not have your payment.
2- Register your dogs
Once your order has been confirmed, you will be redirected to the animal registration page.
Each of the summed analyzes then corresponds to a row.
For each of these analyzes, you must register the dog in question by clicking on the button : Register my dog.
You will need to fill in the following mandatory information:
- Animal name
- Date of birth
- Kind of sample
The proposed sample types will be those that are possible and available for the corresponding analysis.
3- Download your collection kits
Once the animal has been registered, you can then download the sampling certificate for this analysis by clicking on the button : Download my certificate.
Once this button is clicked, a window proposes you to wait while your sampling certificate is created.
Then you can download your sampling certificate by clicking on the button : Download.
The download file is a PDF file.
It is best to register all animals in your order before downloading your sampling certificates.
In fact, once all the animals have been registered, you just have to click on the download button for any analysis to download all the sampling certificates for the order.
This PDF file contains the simplified instructions for taking the sample and the sampling certificate that you can sign. You will also find links to our website with the detailed procedure for taking the sample.
PDF files can be opened with a PDF reader. We recommend the free Adobe Acrobat Reader software which can be downloaded from this link.
4- Sending your collection kits (Optional)
If you have chosen as the kind of sample: a blood in EDTA tube, then you will not receive a collection kit. Indeed, your veterinarian already has an EDTA tube and will do the blood intake with its own EDTA tubes.
If you have chosen as the kind of sample: an buccal swab, then we will send you your collection kit by postal mail. This kit will be shipped the day after your order and you will receive an email about it.
5- Collect the samples
Take the sample from your animal as described in the downloaded file.
Be sure to use the collection kit provided and follow the instructions carefully.
The procedure provided is one that achieves the most reliable and fastest possible results.
We strongly recommend that samples be taken by a veterinarian. And in this case, the veterinarian must complete and sign the sampling certificate. You will find more information on this link.
6- Send the samples to GENIMAL
Send the collection kits and the sampling certificate to our laboratory
Estaing Nord 1
If you have chosen payment by check, do not forget to attach it to your mail
7- Get the confirmation that the sample arrived
As soon as we receive your mail, you will receive an email indicating its receipt.
You can also view the order tracking to track whether your sample is received or not https://www.genimal.com/my-dna-tests/track-my-analyses/.
In the receipt email and in the order follow-up, you will find the expected deadlines for your analyzes.
8- Get your results
Upon receipt of your samples, we immediately process your order.
Once the results are available, you will receive them by email, postal mail or SMS depending on what you ordered.
The results are also available in your customer area at https://www.genimal.com/my-dna-tests/download-my-results/