Test Directory

• PRSS1
• SPINK1
• CFTR

This test covers all coding nucleotides of genes PRSS1, SPINK1, and CFTR, plus at least two and typically 20 flanking intronic nucleotides upstream and downstream of each coding exon, covering the conserved donor and acceptor splice sites, as well as typically 20 flanking nucleotides in the 5′ and 3′ UTR.

Specimen Type: Whole Blood

Collection Container: Lavender Top (EDTA)

Desired Specimen Volume: 2 mL

1. Collect a lavender top (EDTA) tube via venipuncture.
2. Fill tube completely with whole blood.

1. Transport 2 mL of whole blood in the original collection container.

Transport to the laboratory at room temperature.

See patient report.

This method does not reliably detect mosaic variants; large deletions; large duplications, inversions or other rearrangements; deep intronic variants; it may be affected by allele-dropout; it may not allow determination of the exact numbers of T/A or microsatellite repeats; and it does not allow any conclusion as to whether two heterozygous variants are present on the same or on different chromosome copies.

• Pancreatitis: Three-gene Profile (PRSS1, SPINK1, CFTR) (Full Gene Sequencing)