CYPZ: Michelle Kluge, M.S., CGC
Michelle Kluge, M.S., CGC, discusses Mayo Clinic Laboratories' in-depth molecular genetic testing for congenital adrenal hypoplasia. The most common form of this inherited autosomal recessive condition is caused by pathogenic variants in the CYP21A2 gene.
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Show Notes
(00:32):
Can you tell us a little about yourself and your background? What is the role of a genetic counselor in the Genomics Laboratory?
(01:59):
The Genomics Laboratory performs a lot of different genetic tests. What is your area of focus?
(03:00):
Give a brief overview of congenital adrenal hyperplasia.
(05:44):
Which patients should have this testing, and when should it be performed?
(06:35):
Can you tell us a bit about what sets MCL’s CYP21A2 offering apart from other labs?
(08:18):
What are some examples of external results that you have helped resolve?
(10:51):
Do you get calls asking for help interpreting CYP21A2 test results?