Specimen Collection Manual and Test Catalog

3 mL whole blood, 2 mL for pediatrics

Transfusion patients: Wait at least 2 weeks after a packed cell/platelet transfusion, and at least 4 weeks after a whole blood transfusion prior to blood draw for testing.

Send whole blood

Room Temperature

Room temperature 7 days (Preferred). Refrigerated 7 days

Our Pancreatitis panel includes next generation sequencing (NGS) of CPA1, CASR, PRSS1, SPINK1, CTRC, and CFTR.  Genomic deoxyribonucleic acid (gDNA) is isolated from the patient’s specimen using a standardized kit and quantified. Sequence enrichment of the targeted coding exons and adjacent intronic nucleotides is carried out by a bait-capture methodology using long biotinylated oligonucleotide probes, followed by polymerase chain reaction (PCR) and next generation sequencing (NGS). Additional Sanger sequencing is performed for any regions missing, or with insufficient read depth coverage for reliable heterozygous variant detection. Potentially homozygous variants, variants in regions complicated by pseudogene interference, and variant calls not satisfying depth of coverage and variant allele frequency quality thresholds are verified by Sanger sequencing. This test targets detection of DNA sequence mutations in all coding domains, and well into the 5’ and 3’ ends of all the introns and untranslated regions.

Ambry test code 8022

Pancreatitis is characterized by recurring inflammatory attacks that gradually cause irreversible damage to the pancreas and surrounding tissue. Risk factors range from environmental to genetic. Understanding genetic risk for pancreatitis can help alter lifestyle choices, plan appropriate management, and offer risk assessment in family members.