Description
Fulgent Beacon Carrier Screen
Fulgent Beacon Carrier Screen (1008) is a
comprehensive genetic screen for people of all ethnic backgrounds, and a panel that is optimised for individuals and couples of Ashkenazi Jewish ancestry.
The Fulgent Beacon Carrier Screen Panel is a pan-ethnic screen for more than 400 autosomal recessive and X-linked conditions. Testing includes Cystic Fibrosis, Sickle Cell Disease, Thalassemia and Spinal Muscular Atrophy. These conditions vary in morbidity, mortality and treatment.
The Fulgent Beacon Carrier Screen Test examines:
- Sequence variants and small insertions/deletions.
- Deletion/duplications (copy number variants).
- Fragile X: The trinucleotide repeat (CGG) expansion in the 5’ untranslated region of the FMR1 gene.
- Spinal Muscular Atrophy: copy number changes in the SMN1 gene. Point mutations are not detected due to high sequence homology.
- Pseudogenes: carrier mutations in disease genes (such as GBA for Gaucher disease and HBA1/HBA2 for alpha thalassemia) which have highly similar inactive counterparts.
A full list of diseases covered by the panel is available from the laboratory.
Carrier Screening can be carried out for individuals or couples.
Male patients will not be screened for X-linked conditions. If an X-linked condition is suspected in a male patient, please contact the laboratory or a genetics specialist about diagnostic testing for that particular condition.
Indications for having the Fulgent Beacon Carrier Screen
- Pre-pregnancy screening for couples that wish to check if they are silent carriers for a disease that would have serious implications for the future health of any children.
- For patients who are concerned about a family history of a particular disease, where common mutation detections are very high – such as Tay-Sachs Disease.
The report comes with a synopsis of any diseases for which a mutation was found, including prognosis, treatment and mode of inheritance. It includes a risk assessment and recommendations for further testing.
Limitations
A normal result does not rule out the possibility that the patient carries a rare mutation not detectible by this particular assay. For this reason, this test is also not appropriate to use as a direct prenatal screen (both parents must be confirmed carriers for a particular disease before we can offer prenatal diagnosis). Screening is not designed to detect somatic mutations.
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