Understanding Rare Genetic Disorders

Answer our short quiz to see if you qualify for our free, at-home, genetic sequencing test.

Rare Disease Symptoms


Can include delayed gross motor development, low muscle tone, facial and skeletal abnormalities, pediatric hearing loss, and an enlarged tongue in some circumstances.

If you're experiencing any of the following symptoms, our simple, non-invasive genetic test may provide clarity.

Pediatric Hearing Loss

Hearing impairment occurring in children, which can range from mild to profound loss.

Skeletal Abnormalities

Irregularities in the structure or formation of bones, often noticeable through physical examination.

Delayed Gross Motor Development

Slower than usual progress in achieving major physical milestones such as sitting, standing, and walking in children.

Delay in Gross Motor Skills

A lag in the development of large muscle movements, affecting activities like jumping, running, and balancing.

Low Muscle Tone

Reduced muscle strength or tension, often leading to difficulties in movement and posture.

Facial and Skeletal Abnormalities

Distinctive physical features and bone structure irregularities often present from birth.

Pediatric Hydrocephalus

A condition in children characterized by an abnormal buildup of cerebrospinal fluid in the brain, causing increased pressure.

Ankle Equinus

A condition where the upward bending motion of the ankle joint is limited, affecting walking and posture

Gingival Fibromatosis

Overgrowth of the gum tissue, leading to thick, fibrous gums.

Glycoprotein Disease

A disorder involving defective glycoproteins, which are proteins with added sugar molecules, affecting various body functions

Dysostosis Multiple

A group of skeletal disorders characterized by abnormalities in bone development and growth.

Macroglossia

An unusually large tongue, which can interfere with speech, eating, and sometimes breathing.

Are you experiencing any of these symptoms?

What's the next step?

Eligibility.

Spend a few minutes filling out the symptom checker.

If you match the eligibility requirements, you can claim free testing and genetic counseling.

What people are saying

We have been searching for answers for over a decade and I'd almost given up.

I'm so grateful that Probably Genetic has taken it upon themselves to make

this kind of potentially life-altering testing accessible to families like mine.

PanPan

We have been searching for answers for over a decade and I'd almost given up.

I'm so grateful that Probably Genetic has taken it upon themselves to make

this kind of potentially life-altering testing accessible to families like mine.

PanPan

We have been searching for answers for over a decade and I'd almost given up.

I'm so grateful that Probably Genetic has taken it upon themselves to make

this kind of potentially life-altering testing accessible to families like mine.

PanPan

How it works?

1. See if you are eligible

  • Complete a profile to determine your eligibility and pre-order your test.

  • If you are eligible, a test kit is shipped to your home.

2. Collect and Send

  • Receive the test kit, provide a saliva sample, and return the test kit using the prepaid box.

  • The lab sequences your sample and an analysis team identifies all disease causing variants that could be related to your reported symptoms, or similar.

3. Receive your results

  • In 8 weeks, review your clinical genetic report and discuss your results during a complimentary genetic counseling session.

Take a Positive Step Forward

Our free testing program applies to people in the US with symptoms suggestive of a genetic lysosomal storage disease. No credit cards, no doctor appointments, and no insurance necessary. All from the comfort of your home.