Genetic Testing:

Because every patient deserves a diagnosis

Earlier answers can dramatically change trajectory of care.

240M
Out of an estimated 300 million people living with a rare disease, 80% (240 million) are living with one that is genetic in origin.
~7
Rare disease patients see an average of 7.3 physicians before receiving a correct diagnosis.
5Y
Diagnosis is delayed for many for as much as 5 years, with some even stretching past a decade.

Could genetic testing change your path?

Genetic conditions affect millions, yet most people wait years for an answer, cycling through wrong treatments, unnecessary procedures, and missed opportunities. A single diagnosis can unlock the right treatment, open doors to clinical trials, and identify risk in family members before symptoms ever appear. Knowing your genetic makeup isn't just useful - it's the starting point for everything that follows.

Consider genetic testing if you or a family member:

  • Has been on a long diagnostic journey without a clear answer
  • Has a known or suspected rare or genetic condition
  • Has a family history of genetic disease or early-onset illness

No-cost access

for these conditions

  • Hypoparathyroidism & ADH1

    ADH1 is a common form of genetic hypoparathyroidism caused by gain-of-function variants in the calcium-sensing receptor gene (CASR).

  • ATTR-CM & ATTRv

    Hereditary transthyretin amyloidosis (ATTRv) is a type of amyloidosis that is caused by a change in the transthyretin (TTR) gene.

  • LGMD Sub-variants

    Limb-girdle muscular dystrophy type 2I/R9 (LGMD2I/R9) is a rare, neuromuscular condition caused by variants in the fukutin-related protein (FKRP) gene.

Genetic testing options

to fit your needs

  • At-home test

    Order a no-cost test kit to your location; return by mail after completion.

  • On-demand test

    Request no-cost, on demand genetic testing and sample collection.

BridgeBio

Genetic Testing Tour Summer ‘26

Because answers shouldn't depend on access, we will be coming to you, making stops all along the west coast. Washington. Oregon. California. Arizona.


Our tour will focus on ADH1 & Hypoparathyroidism.


Want us to come to your community? We will be adding stops along the way, so don’t hesitate to let us know.

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‘I was constantly told I just had low calcium for years. Once I was tested and diagnosed with ADH1, everything changed’

Arielle, Living with ADH1

Learn more about 
genetic testing

Explore the websites of the NSGC, CDC & NIH for general information and genetic testing resources.