QHerit™ Expanded Carrier Screen Test
This is a carrier screening panel that analyzes 24 genes associated with 22 recessive conditions, including one X-linked condition, intended for use regardless of a person's ancestry.
About this test
The panel analyzes 24 genes linked to 22 conditions, including alpha thalassemia, beta-hemoglobinopathies such as sickle cell disease, Bloom syndrome, Canavan disease, cystic fibrosis, familial dysautonomia, Fanconi anemia, Fragile X syndrome, Gaucher disease and other conditions, using targeted molecular detection of known variants. It uses methods including polymerase chain reaction with capillary electrophoresis and methylation analysis, multiplex PCR, massively parallel sequencing, and allele-specific real-time PCR, run on a whole blood sample.
Quest lists a reflex rule for this panel: if the Fragile X result by PCR is not reported as normal, or falls in a gray zone, the lab automatically also runs Fragile X methylation analysis.
Test details
| Collection | Quest patient service center |
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Quest resources
Additional details
What this test looks at
The panel reports carrier status across the genes it analyzes, along with interpretations, summary statements and a residual risk table for the conditions covered. Quest also reports Fragile X CGG repeat findings and, when the reflex applies, a Fragile X methylation result.
How it's often used alongside other tests
Because this is a screening panel rather than a diagnostic one, Quest pairs each gene's carrier finding with an interpretation and, where relevant, a residual risk table, so a result is read together with that context rather than as a single positive or negative flag. The panel is designed for use regardless of a person's ancestry, rather than being limited to conditions linked to a particular population.
This test isn't part of the Celio Health store at the moment, so it can't be ordered or requested here. The test menu lists everything that can.
Laboratory results should always be interpreted by a licensed clinician who knows your health history. This page is information about a test, not medical advice.
Frequently asked questions
What does this panel measure?
It analyzes 24 genes linked to 22 recessive conditions, including alpha thalassemia, sickle cell disease, cystic fibrosis, Fragile X syndrome and Gaucher disease among others, and reports carrier status for each.
How is the sample collected?
The test uses a whole blood sample from a routine blood draw.
Do I need to prepare for this test?
No preparation instructions are listed for this test, though people follow any instructions their ordering clinician provides.
What happens with the Fragile X reflex?
If the Fragile X PCR result is not reported as normal, or falls in a gray zone, the lab automatically also runs Fragile X methylation analysis as part of the same panel.