List of diseases covered by
Renal Cancer NGS panel

Gene Condition
BAP1 Tumor predisposition syndrome
CDC73 Hyperparathyroidism, familial primary; Hyperparathyroidism-jaw tumor syndrome;
Parathyroid carcinoma
CDKN1C Beckwith-Wiedemann syndrome; IMAGE syndrome
DICER1 Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors;
Pleuropulmonary blastoma;
Rhabdomyosarcoma, embryonal, 2
DIS3L2 Perlman syndrome
EPCAM Colorectal cancer, hereditary nonpolyposis, type 8;
Diarrhea 5, with tufting enteropathy, congenital
FH Leiomyomatosis and renal cell cancer; Fumarase deficiency
FLCN Birt-Hogg-Dube syndrome; Pneumothorax, primary spontaneous
GPC3 Simpson-Golabi-Behmel syndrome, type 1
HNF1A Renal cell carcinoma
MET Renal cell carcinoma, papillary, 1, familial and somatic
MLH1 Colorectal cancer, hereditary nonpolyposis, type 2;
Mismatch repair cancer syndrome 1;
Muir-Torre syndrome
MSH2 Colorectal cancer, hereditary nonpolyposis, type 1;
Mismatch repair cancer syndrome 2;
Muir-Torre syndrome
MSH6 Colorectal cancer, hereditary nonpolyposis, type 5;
Mismatch repair cancer syndrome 3
PTEN Cowden syndrome 1; Macrocephaly/autism syndrome;
Glioma susceptibility 2; Meningioma
REST Fibromatosis, gingival, 5; Wilms tumor 6, susceptibility to
SDHB Gastrointestinal stromal tumor; Mitochondrial complex II deficiency,
nuclear type 4; Paraganglioma and gastric stromal sarcoma;
Paragangliomas 4; Pheochromocytoma
SDHC Gastrointestinal stromal tumor;
Paraganglioma and gastric stromal sarcoma;
Paragangliomas 3
SDHD Mitochondrial complex II deficiency, nuclear type 3;
Paraganglioma and gastric stromal sarcoma;
Paragangliomas 1, with or without deafness; Pheochromocytoma
SMARCB1 Coffin-Siris syndrome 3; Rhabdoid tumor predisposition syndrome 1;
Schwannomatosis-1, susceptibility to
TP53 Breast cancer; Adrenal cortical carcinoma;
Choroid plexus papilloma;
Colorectal cancer; Li-Fraumeni syndrome;
Nasopharyngeal carcinoma; Osteosarcoma; Pancreatic cancer;
Basal cell carcinoma 7; Glioma susceptibility 1
TSC1 Lymphangioleiomyomatosis; Tuberous sclerosis-1
TSC2 Tuberous sclerosis-2
VHL Erythrocytosis, familial, 2; Pheochromocytoma;
von Hippel-Lindau syndrome
WT1 Denys-Drash syndrome; Frasier syndrome;
Meacham syndrome; Nephrotic syndrome, type 4;
Wilms tumor, type 1