The study of biomarkers in liquid biopsy makes it possible to identify somatic tumour mutations that are therapeutic targets for certain targeted drugs in patients' blood plasma, using a minimally invasive technique.

Turnaround Time.

• The maximum turnaround time is 12 calendar days.

Patient Specifications.

• Diet Before the Test. The patient may maintain their usual diet.
• Medication Withdrawal Before the Test. Medication does not need to be discontinued.
• Fasting Period Before the Test.  Fasting is not required for blood collection.

Specimen Specifications.

• Specimen Type. Peripheral Blood.
• Container Type. The tubes listed in IT-001 are valid (PTT EDTA K2 tube (Becton Dickinson) with separator gel, PAXgene Blood ccfDNA tube, Cell-Free DNA BCT Streck).
• Minimum Volume.  Whenever the patient's condition allows, a volume of between 7 and 10 ml will be collected. Samples with less than 7 ml will still be accepted, and the Head of the Liquid Biopsy Laboratory–Medical Oncology will assess the condition of the sample.
• Special Transport Recommendations. The sample should be transported as soon as possible to avoid contamination with genomic DNA.

Analytical Specifications.

• Analysis Method. Detection and quantification of circulating tumour DNA using array-based digital PCR.
• Instrumentation. Thermo Scientific digital PCR.
• Parameter Specifications. Any result above the test's limit of detection, established at 0.1%, will be considered positive.

MOLECULAR DIAGNOSIS OF HEREDITARY CANCER

This test can diagnose the following syndromes in high-risk families:

• Diagnosis of hereditary breast and ovarian cancer syndrome (ATM, BARD1, BRIP1, BRCA1, BRCA2, CHEK2, PALB2, RAD51C, RAD51D genes)
• Diagnosis of Familial Adenomatous Polyposis (APC, AXIN2, MUTYH, NTHL1, POLD1, POLE genes)
• Juvenile polyposis syndrome (BMPR1A, SMAD4 genes)
• Diagnosis of Lynch syndrome (EPCAM, MLH1, MSH2, MSH6, PMS2 genes)
• Hereditary diffuse gastric cancer (CDH1, CTNNA1 genes)
• Li-Fraumeni syndrome (TP53 gene)
• Familial melanoma (BAP1, CDKN2A, CDK4, MC1R, POT1, TERF2IP, ACD, TERT genes)
• Peutz-Jeghers syndrome (STK11 gene)
• Hereditary leiomyomatosis (FH gene)
• Hereditary pheochromocytoma-paraganglioma (SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127 genes)
• Multiple endocrine neoplasia (MEN1 and RET genes)
• Diagnosis of von Hippel-Lindau syndrome (VHL gene)
• Hereditary papillary renal carcinoma (MET gene)
• Hereditary pancreatic cancer (PRSS1, BRCA1, BRCA2, PALB2, ATM, CDKN2A genes)

It also enables identification of patients who are candidates for treatment with a PARP inhibitor. The laboratory is accredited to UNE-EN ISO 15189 for the study of mutations in the following genes:

ACD, AIP, AKT1, ATM, AXIN2, BAP1, BARD1, BMPR1A, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, CTNNA1, DICER1, FAM175A, FH, FLCN, GREM1, HABP2, HOXB13, KIF1B, MAX, MC1R, MEN1, MET, MITF, MLH3, MRE11, MSH3, NBM, NF1, NF2, NTHL1, PALB2, PIK3CA, POLD1, POLE, POT1, PRKAR1A, PRSS1, PTCH1, PTEN, RAD50, RAD51C, RAD51D, RB1, RET, SDHA, SDHAF2, SDHC, SDHS, SLC45A2, SMAD4, SMARCB1, STK11, SUFU, TERF2IP, TERT, TMEM127, TP53, VHL and XRCC2.

Turnaround time.

• The approximate turnaround time is between 6 and 8 months.

Patient Specifications.

• Diet Before the Test. The patient may maintain their usual diet.
• Medication Withdrawal Before the Test. Medication does not need to be discontinued.
• Fasting Period Before the Test.  Fasting is not required for blood collection.

Specimen Specifications.

• Specimen Type. Peripheral Blood.
• Container Type. EDTA haematology tube.
• Minimum Volume.  Whenever the patient's condition allows, a volume of between 7 and 10 ml will be collected. Samples with less than 7 ml will still be accepted, and the Head of the Liquid Biopsy Laboratory–Medical Oncology will assess the condition of the sample.

Analytical specifications

• Analysis Method. Detection of mutations in cancer-susceptibility genes by high-throughput/Sanger sequencing. Detection of large rearrangements by capillary electrophoresis.
• Instrumentation. Thermal cyclers / Sanger sequencer / high-throughput sequencer.