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Lavender or pink (EDTA) or yellow (ACD solution A or B
Whole bl
3 mL
Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush, or swab; FFPE tissue; DNA.
REFRIGERATED
Varies
14-21 days
Massively Parallel Sequencing/Sequencing/Multiplex Ligation-Dependent Probe Amplification (MLPA)
Core
IHC
PALB2, PHOX2B, PMS2, PTEN, RAD51C, RAD51D, RB1, RET, SDHAF2
ALK, APC, ATM, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN1B, CDKN2A
CHEK2 common mutations
EPCAM deletion only
FH, FLCN, MAX, MEN1, MET, MLH1, MSH2, MSH6, MUTYH, NBN, NF2
SDHB, SDHC, SDHD, SMAD4, SMARCB1,STK11, SUFU, TMEM127, TSC1, TSC2, TP53, VHL
Wilms Tumor
HBOC syndrome
Rhabdoid Tumor Predisposition syndrome
Von Hippel Lindau (VHL) syndrome
PTEN Hamartoma Tumor syndrome
Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) syndrome
Hereditary Papillary Renal Carcinoma (HPRC) syndrome
Hereditary Paraganglioma Pheochromocytoma
Birt-Hogg-Dube (BHD) syndrome
Cowden syndrome
Familial Adenomatous Polyposis (FAP)
Hereditary Diffuse Gastric Cancer (HDGC)
Hereditary Nonpolyposis Colorectal Cancer (HNPCC)
Juvenile Polyposis syndrome (JPS)
Li-Fraumeni syndrome (LFS)
Lynch syndrome
Malignant Mesothelioma
MUTYH-Associated Polyposis (MAP)
Peutz-Jegher syndrome (PJS)
Tuberous Sclerosis Complex (TSC)
Coffin-Siris syndrome
Test
81432
97656-3