Update on Genetic Testing for Rare Diseases at the MGZ - Medical Genetics Center
While not all rare diseases have genetic origins, there are thousands that do. Very often, people affected by these rare diseases live with a condition that takes years to diagnose – a genetic odyssey.
A definite diagnosis can assist the patient and family with finding relevant medical information, disease-specific support groups, and research networks.
At the MGZ – Medical Genetics Center, our team of human geneticists is available to work with clinicians in finding the most appropriate testing strategy for patients affected by a rare medical condition.
As a full-service diagnostic laboratory, the MGZ offers an array of high quality, accredited genetic analyses:
In addition, our R&D and scientific teams work closely together to develop and implement new methodologies for specific rare diseases to assist clinicians in obtaining an accurate diagnosis for their patients and enabling them to provide the best patient care.
New Test Option for facioscapulohumeral muscular dystrophy (FSHD)
Our latest in-house developed analysis is for the neuromuscular disease, FSHD.
The analysis is based on the detection/exclusion of a permissive haplotype and an NGS-based methylation analysis of the FSHD locus 4q, so that FSHD1 and FSHD2 can be detected as a result of hypomethylation. (Test ID: 709.00)
Note: This test is not suitable for predictive diagnostics. We do not perform a detection of D4Z4 repeat contraction, which is usually performed by Southern blot.
Clinicians can now request this analysis for their patients. For price information send an email to firstname.lastname@example.org.
For the various forms required to submit a test request in addition to useful clinician and patient-specific information about the MGZ’s genetic testing and counseling services, view our Downloads page.
Do you have questions about genetic testing for a rare disease? Do you wish to know more about the clinical utility of genetic testing for your specific patient case? Our team of clinical geneticists is available for consultations.
Contact us to arrange an email/phone contact with one of our specialists. We look forward to assisting you in finding the right diagnostic strategy.