Pancreatitis: SPINK1 (Full Gene Sequencing)
Use
This test involves sequencing all coding nucleotides of the SPINK1 gene, in addition to covering at least two and typically 20 flanking intronic nucleotides upstream and downstream of each coding exon, including the conserved donor and acceptor splice sites. It also usually covers 20 flanking nucleotides in the 5′ and 3′ UTR. The purpose of this test is to evaluate genetic variants that may contribute to pancreatitis by analyzing the complete coding sequence of SPINK1, a gene involved in pancreatic function.
Special Instructions
In cases where a known mutation is already documented, physicians may opt for test 252784 instead. It is crucial to properly store samples at 4°C for brief periods and ship them at room temperature for analysis.
Limitations
This sequencing method does not reliably detect mosaic variants or larger genetic rearrangements such as large deletions, duplications, and inversions. Additionally, it has limitations in identifying deep intronic variants and might be affected by allele dropout. It may also not determine the exact number of T/A or microsatellite repeats and cannot ascertain whether two heterozygous variants are on the same or different chromosomes.
Methodology
NGS
Biomarkers
LOINC Codes
- 41051-4
- 41051-4
Result Turnaround Time
14-35 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
2 mL
Minimum Volume
Not provided
Container
Lavender-top (EDTA) tube
Collection Instructions
Samples may be stored for brief periods at 4°C. Ship overnight at room temperature.
Storage Instructions
Maintain specimen at room temperature.
Causes for Rejection
Container broken or leaking; container not labeled or label not legible; improper anticoagulant