FCSNext™
Use
The FCSNext test is a genetic panel designed to analyze five genes most commonly associated with Familial Chylomicronemia Syndrome (FCS), a rare condition marked by chylomicronemia leading to severe hypertriglyceridemia and recurrent pancreatitis. This condition is underdiagnosed due to its rarity and the possibility of misattributing symptoms to other causes. Testing can confirm diagnosis, assist in identifying at-risk individuals, and guide personalized disease management and treatment strategies.
Special Instructions
Family variant testing is available at no additional cost for relatives of patients with pathogenic variants identified in Ambry Genetic's full sequencing tests. Testing must occur within 90 days of the original report date. More closely related relatives should be prioritized for testing.
Limitations
The test aims to detect over 99% of mutations in the genes tested, but analytical sensitivity might vary. Coverage may not achieve exon-level resolution for every gene. Verification of potentially homozygous variants, variants in pseudogene-interfering regions, or those not meeting coverage and quality thresholds is done via Sanger sequencing. Gross deletion/duplication analysis might not detect everything at exon resolution.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided
Collection Instructions
Refer to specific specimen requirements on the ordering form linked on the provider page.