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This one is about: Sticklers Genetic Testing

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Sticklers Genetic Testing

I called a lab in Pennsylvania today about the Sticklers testing. This is what I found out from the geneticist that explains the testing much better. It is 90% accurate if the mutation involves COL2A1, which only 20 to 40% of Stickler affected have. Anyway, thought you might like to see what he had to say.

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There are many features characteristic to Stickler syndrome, but since the short stature, I understand the hesitation of one geneticist. The mutations in many proteins, for example in type II collagen, can cause a wide variety of phenotypes (=findings and severity in one patient)  depending on the nature and location of the mutation. The phenotypes vary from almost nonexistent to perinatally lethal. Also, it is often difficult to find exact phenotype for each patient, since these disorders are really a continuum of phenotypes from mild to severe. Some met criterias for one disorder (such as Stickler), some are at between two different phenotypes (Stickler & Kniest), and it is difficult to decide which diagnosis to use...(you can find out more about these disorders from

We perform the analysis of COL2A1 gene. The accuracy of the test is about 90% with the method we are using. However, this is only if the mutation is in type II collagen gene (COL2A1). The probability on finding a mutation in Stickler syndrome in COL2A1 gene is 20-40%. However, we have an ongoing co-laboration with a group analyzing 
additional genes for Stickler syndrome. If we do not find mutation in COL2A1 gene, we'll send the DNA to them for additional analyses. The percentage of mutations found in additional testing remains to be seen. It's still research based project, and the results are preliminary.

The charge for testing is $1500. The test, or actually it's 50 individual tests, is very laborious, thus the relatively high cost. Generally, insurance companies have been paying for the testing. The sample we need is 5-20ml of  blood in EDTA-tubes, and it can be sent overnight using for example Fedex. Therefore, there is no need for traveling...

We can send you our information package on type II collagen testing by fax or by mail, if you tell us your fax number or mail address.

I hope this answer was helpful to you. For any additional information, you can call either Maureen Kinnarney (see knows more about the insurance..) at (215) 762 7234 or me at (215) 762 7172. Or e-mail me to this address.

Jarmo Korkko, M.D.
Center for Gene Therapy
Allegheny University of the Health Sciences
10118 New College Building
245 No. 15 St., Mail Stop 421
Philadelphia, PA 19102
intl+1-(215) 762 7172 (phone)
intl+1-(215) 762 7408 (fax)

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