Pioneering Genetic Testing Access Through Probably Genetic’s Whole Exome Sequencing for Alpha-Mannosidosis

Patient Worthy is excited to highlight Probably Genetic’s free genetic testing program for
alpha-mannosidosis. The intricate web of rare diseases often leaves individuals and their families searching for answers and support, and Probably Genetic stands out as a guiding light in this journey.

New Patient Worthy partner ISMRD is the international advocate for glycoprotein storage diseases and helps to connect families. ISMRD also seeks to detect and cure these diseases through partnerships with medicine, science, and industry. ISMRD is very keen to minimize the diagnostic time for all the glycoproteinoses, including alpha-mannosidosis. They welcome this diagnostic tool and free testing for American alpha-mannosidosis patients.

Alpha-mannosidosis, a rare genetic disorder, is characterized by symptoms that vary widely but
include developmental delays, intellectual disabilities, coarse facial features, hearing loss,
speech delay, muscle weakness, skeletal abnormalities, and more. The urgency for early
diagnosis is underscored by the existence of treatment options that can alter the disease trajectory. Early diagnosis plays a pivotal role in providing timely and effective supportive care to
individuals affected by this disorder.

Excitingly, Probably Genetic has launched efforts to support undiagnosed patients by providing an avenue to genetic testing free from the barriers found in traditional healthcare environments. Individuals experiencing symptoms associated with Alpha-Mannosidosis can initiate the process by completing Probably Genetic’s symptom checker. This is a patient-friendly online form where individuals/caregivers can describe their experience and apply for a free genetic test in ten minutes or less.

Probably Genetic’s entire platform is HIPAA-compliant, and they operate according to strict data and privacy practices. The genetic testing offered for the program is clinical grade whole exome sequencing. Unlike some genetic testing methods that focus on specific genes, whole exome
sequencing examines the entire protein-coding region of the genome, offering a comprehensive
analysis of genetic variants that may contribute to the patient’s reported symptoms.

If approved for testing, patients will receive a test kit that includes a return shipping label to
ensure that sending the kit back is as easy as possible. Once the lab has received the sample,
patients can expect results to be ready in approximately six weeks and will be kept updated via
email about their test status.

Once results are ready, patients are prompted to schedule a free genetic counseling appointment with a board-certified genetic counselor. The appointments are conducted over the phone or a video call, where patients will be walked through any findings and have the opportunity to ask any questions or discuss next steps.

We encourage our readers to share the link to Probably Genetic’s free testing program with
individuals who may benefit from free testing and are experiencing symptoms that may indicate a genetic disorder.

Link to the program:

Any questions or comments can be directed to the Probably Genetic team at [email protected].

Check out the ISMRD partner page here.

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