CORP — CORPORATE / INDUSTRY

Free Genetic Testing for Mitochondrial Disease

Probably Genetic + UMDF (industry-sponsored)

Award

Free at-home WGS (incl. mtDNA) + genetic counseling

Deadline

Rolling

Award type

In-kind support

Focus

Tools & compute · Patient & family support

Patient-initiated free testing: a short online symptom quiz, then a physician-ordered at-home saliva kit with whole-genome sequencing including mitochondrial DNA, results in about 6–12 weeks, and a free genetic counseling appointment. Probably Genetic states it conducts and funds the program itself; UMDF's patient-enabled no-cost testing program with Probably Genetic is also live.

Why it's in this index

Whole-genome sequencing covers TAFAZZIN, but the program does not name it — families should confirm before relying on it for Barth confirmation. Carrier testing of asymptomatic relatives may also fall outside the symptom-based eligibility.

Who can apply

US patients and families, initiated via a symptom questionnaire with physician follow-up.

How to apply

Through the Probably Genetic mito portal or UMDF's genetic testing page.

Links & downloads

Probably Genetic mito portal ↗UMDF genetic testing ↗