Saturday, February 9, 2008

Labs Where Shwachman-Diamond Genetic Testing is Performed

This information if found on the Shwachman-Diamond America Website.

SBDS genetic testing is currently available in two labs in the United States.
Ambry Genetics

The Ambry Test is a full gene sequence analysis of the SBDS gene.

Ambry FAQ: What is the turnaround time for the Ambry Test: SDS?

Results are reported in 10-21 days


GeneDx FAQ: Turn-Around Time:
Mutation detection in a new patient Approx. 6 weeks

Testing of a relative for one specific mutation* 3-4 weeks

Testing of a relative for two specific mutations*= 3-4 weeks

Prenatal diagnosis for specific known mutations* Approx. 2 weeks