EPISODE · Nov 23, 2021 · 17 MIN
CYPZ: Michelle Kluge, M.S., CGC
from Answers from the Lab · host Mayo Clinic Laboratories
(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?
Embed this episode
What this episode covers
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. MCL's approach avoids the limitations of standard next generation sequencing assays, allowing for a detection rate of greater than 99% for patients with a clinical diagnosis of 21-hydroxylase deficient CAH.
NOW PLAYING
CYPZ: Michelle Kluge, M.S., CGC
No transcript for this episode yet
Similar Episodes
No similar episodes found.
Similar Podcasts
No similar podcasts found.