Genetic Testing

Posted by cj on August 15, 2007 at 23:15:23:
In Reply to: Genetic Testing posted by Lori on August 15, 2007 at 09:15:56:


Jerry had his genetic testing done thru the University of Pittsburg. EVEN though he did not test positive for any of the genes, being that he has several family members with the same problem, they do not exclude hereditary links. The lady explained to me that they had HUNDREDS of families with multiple pancreatic patients and there is a definate link that doesnt fit the ones they know of but they know somehow they are linked.

http://www.pancreas.org/

The issues surrounding genetic testing of patients with suspected hereditary pancreatitis or other gene mutations is complex (see discussion by Etamad and Whitcomb). Several major research trials are underway and information will be forwarded to physicians by request by emailing Beth Elinoff.

Complete screening of the CFTR gene is available at a fraction of the cost of direct sequencing is now available at Ambry Genetics.

Ambry Genetics has now developed a complete pancreatitis panel of genetic testing that covers ALL regions of trypsinogen (PRSS1), pancreatic secretor trypsin inhibitor (SPINK1) and the cystic fibrosis transmembrane conductance regulator (CFTR). Contact information is

Ambry Genetics
100 Columbia, suite 200
Aliso Viejo, California 92656
Main # 949-900-5500
Fax # 949-900-5501

CLIA#: 05D0981414
California Lab ID#: CLF 11694

Part 2

http://www.pancreas.org/patients/patients_genetictesting.html

Genetic Testing for Hereditary Pancreatitis

Careful consideration should be made when considering genetic testing for any condition. Some of the considerations are discussed in the Frequently Asked Questions page or in a Consensus Statement from 2001. Not that recent progress has been made in the diagnosis of all forms of recurrent acute and chronic pancreatitis and that we now recommend CFTR and SPINK1 testing as well as trypsinogen testing. Note: genetic testing for trypsinogen mutations has been exclusively licensed to Ambyr Genetics.
Genetic testing for HP

Genetic testing for HP is currently available only on a commercial basis. Commercial testing is conducted through a licensed laboratory (Ambry Genetics) for a specified fee that may be covered by your insurance plan. A small blood sample is drawn at your doctor's office or hospital laboratory and sent to the commercial laboratory for testing. Results are then provided to your referring physician or counselor. Check with your insurance carrier to determine whether genetic testing is covered by your health plan.
Testing can only be done in a laboratory licensed to perform this test.

If testing is being done at other institutions within the United States, please call the 888- PITT DNA number to be sure that the site is approved. Genetic testing for any condition is a complex process. Genetic counselors should be available in your local area to help identify the potential risks, benefits, and limitations of genetic testing for HP. Referrals to local genetic counselors can be obtained from your primary care physician. To find a genetic counselor near you, ask your physician or call us for assistance at 888-PITT-DNA.