Genetics 101

A friend sent this link to me a few months ago. It is a great place to get a basic understanding of genetics. Genetics 101


For information on Shwachman-Diamond Syndrome check out Shwachman-Diamond America

The Common SBDS Mutations

The common SBDS mutations are found on chromosome 7, exon 2—

[183_184TA-->CT] K62X


[258+2T-->C] 84Cfs3


[183_184TA-->CT and 258+2T -->C] K62X

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

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

SBDS Gene FAQ from Hospital for Sick Children

The researchers from the Hospital for Sick Children found the gene responsible for Shwachman-Diamond Syndrome.

Click the link below to read the SBDS Gene FAQ