There is a genetic condition in my family
When a genetic condition or specific variant is already known in the family, targeted testing may sometimes help clarify risk for relatives or future pregnancies.
This path may fit when
These points are not a diagnosis. They help you understand whether this starting point may match your question.
Possible situation
A relative has been diagnosed with a genetic condition.
Possible situation
There is a known pathogenic or likely pathogenic variant in the family.
Possible situation
You need to test another family member for the same variant.
Possible situation
You are planning pregnancy and want to understand inherited risk.
Possible situation
You have old reports and need help understanding the next step.
How Mass Diagnostics can help
Mass Diagnostics can help clarify whether targeted familial variant testing, single gene testing, or a broader service may be appropriate.
Suggested services for known family conditions
The best route depends on whether a specific familial variant is already known.
Familial Variant Test
Familial Variant Testing helps determine whether relatives carry a previously identified genetic variant that has already been detected within the family.
View service details →
Single Gene Sequencing
Single Gene Sequencing focuses on analyzing a specific gene when clinical findings strongly suggest a particular inherited condition.
View service details →
Whole Exome Sequencing (WES)
Whole Exome Sequencing (WES) is an advanced genetic test that analyzes the protein-coding regions of the genome to help investigate unexplained symptoms, rare diseases,...
View service details →
Reproductive Carrier Screening
Reproductive Carrier Screening helps identify whether prospective parents carry genetic variants associated with inherited conditions that could be passed to their children.
View service details →What to prepare
You can start with a simple message. Adding a few details helps the team understand your question faster.
Still unsure where to start?
Send your question, symptoms, referral, or family history. The Mass Diagnostics team will help guide the next step.