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Test Code LABMDHCG Hereditary Cancer Germline Panel

Specimen and Container/Tube

Specimen Type: peripheral blood
Preferred Specimen: lavendar top
Other Acceptable Specimens: none

Volume

Preferred Volume: 3ml
Minimum Volume: 3ml

Specimen Stability

Blood specimens may be kept at room temperature for up to 6 hours following collection, or at 4°C for up to two weeks.

Collection Instructions

Collect specimen per standard laboratory collection procedures.

Specimen Handling and Transport Instructions

UCM Onsite Instructions: Collect specimen per standard collection procedure and send to the laboratory immediately.
UCM Offsite and UC MedLab Outreach Instructions: Collect specimens were standard collection procedure. Specimens may be sent at ambient temperature.

Reference Values

n/a

Critical Values

n/a

Turnaround Time

Turnaround times are relative to the time the specimen is received in the testing laboratory section.

STAT Turnaround Time: n/a
Routine Turnaround Time:

Testing Schedule: M-F 7:00am-5:00pm

Clinical Indications

This is a germline genetic test to identify cancer risk variants in patients with solid tumors, or at risk of developing solid tumors, based on clinical parameters, including family history. The identification of cancer risk variants in patients can help with personalized cancer care or preventative patient management and can guide additional screening and management for patients’ family members.

Test Components

The Hereditary Cancer Panel includes fifty-one genes associated to increased susceptibility to familial solid tumors of the breast, ovary, endometrium, prostate, pancreas, colorectum, stomach and skin (melanoma). The panel also includes genes that are commonly mutated in patients with familial solid tumors: BAP1 for familial mesothelioma, DICER1 for DICER1 syndrome, and VHL for Von Hippel Lindau disease. Sequencing variants, copy number variants, and structural variants in MSH2 (commonly known as the Boland inversion) and BAP1 are reported for this panel.

CPT Codes

Hereditary Breast Cancer Indication: 81432 and 81433
Hereditary Colon Cancer Indication: 81435 and 81436
Other Hereditary Cancer Indication: 81443

Methodology

Next-Generation Sequencing

Synonyms/Key Search Words

APC, ATM, AXIN2, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2, CHEK2, CTNNA1, DICER1, EPCAM, GALNT12, GREM1, HOXB13, KIT, MEN1, MLH1, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NTHL1, PALB2, PDGFRA, PMS2, POLD1, POLE, PTEN, RAD50, RAD51C, RAD51D, RNF43, RPS20, SDHA, SDHB, SDHC, SDHD, SMAD4, SMARCA4, STK11, TP53, TSC1, TSC2, VHL, Boland Inversion, NGS, cancer, breast, colon

Last Review Date

9/16/2024