Cancer is a group of diseases results from uncontrolled cell growth that evade the cell cycle regulation and forms tumor. A tumor can be cancerous or benign in nature. Cancer results from germline (inherited by parents ) or somatic (acquired) Mutations/Variants.
Multi - Cancer Panel Gene Test
Synopsis
This test screens the mutations/variants in the cancers affecting multiple organ systems such as breast, ovarian, uterine colorectal, gastric, pancreatic, thyroid, paraganglioma/ pheochromocytoma, hyperparathyroidism, renal/urinary tract, prostate, melanoma, basal cell nevus syndrome, brain/nervous system tumors, sarcoma and myelodysplastic syndrome/leukemia.
Why to Screen
1. Diagnosis of cancer in early age.
2. A family history of certain type of cancers.
3. Diagnosis of cancer at younger ages in family members.
2. A family history of certain type of cancers.
3. Diagnosis of cancer at younger ages in family members.
Sample Type
Saliva (2 mL) / Blood Sample (3 mL in EDTA Container) / DNA (Extracted from Frozen blood, Buccal swab/scrape, Saliva, Mouthwash (oral rinse), Muscle, skin, or liver tissue, Cultured fibroblasts, Cord blood collected at birth, but not prior to birth)
Genes
ALK, APC, ATM, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN1C, CDKN2A, CEBPA, CHEK2, CTNNA1, DICER1, DIS3L2, EGFR, EPCAM, FH, FLCN, GATA2, GPC3, GREM1, HOXB13, HRAS, KIT, MAX, MEN1, MET, MITF, MLH1, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PDGFRA, PHOX2B, PMS2, POLD1, POLE, POT1, PRKAR1A, PTCH1, PTEN, RAD50, RAD51C, RAD51D, RB1, RECQL4, RET, RUNX1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SMARCE1, STK11, SUFU, TERC, TERT, TMEM127, TP53, TSC1, TSC2, VHL, WRN, WT1
No of Genes Screened
83
Limitations
This test screens the coding regions (Exons) and Exon/Inton boundaries upto +/- 10 base pairs in the selected genes that results in hereditary breast, ovarian, uterine, colorectal, gastric, prostate, melanoma, and pancreatic cancers.
Common Hereditary - Cancer Panel Gene Test
Synopsis
Hereditary cancers result’s from one or multiple mutations/variants in the cancer risk causative genes, that are passed down through generations of families, can contribute to an individual’s risk of developing certain cancers. Early screening may result in risk-reduction and increases the chances of successful treatment and survival.
Why to Screen
1. A family history of certain type of cancers.
2. Diagnosis of cancer at younger ages in family members. Individuals Diagnosed of Breast cancer before 50 years of age, ovarian cancer, male breast cancer, triple-negative (ER/PR/HER2-neu negative) breast cancer and Family history of breast and ovarian cancers
2. Diagnosis of cancer at younger ages in family members. Individuals Diagnosed of Breast cancer before 50 years of age, ovarian cancer, male breast cancer, triple-negative (ER/PR/HER2-neu negative) breast cancer and Family history of breast and ovarian cancers
Sample Type
Saliva (2 mL) / Blood Sample (3 mL in EDTA Container)
Genes
APC, ATM, AXIN2, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, CTNNA1, DICER1, EPCAM, GREM1, HOXB13, KIT, MEN1, MLH1, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NTHL1, PALB2, PDGFRA, PMS2, POLD1, POLE, PTEN, RAD50, RAD51C, RAD51D, SDHA, SDHB, SDHC, SDHD, SMAD4, SMARCA4, STK11, TP53, TSC1, TSC2, VHL
No of Genes Screened
47
Limitations
This test screens the coding regions (Exons) and Exon/Inton boundaries upto +/- 10 base pairs in the selected genes that results in hereditary breast, ovarian, uterine, colorectal, gastric, prostate, melanoma, and pancreatic cancers.
Breast Cancer Panel Test
Synopsis
This test covers the genes that are associated with increased risk of developing breast cancer.
Why to Screen
Individuals with a personal/family history of early onset of breast, ovarian, uterine/endometrial, colon, pancreatic, melanoma, sarcoma, and/or prostate cancer or male breast cancer and breast or ovarian cancer.
Sample Type
Saliva (2 mL) / Blood Sample (3 mL in EDTA Container) / DNA (Extracted from Frozen blood, Buccal swab/scrape, Saliva, Mouthwash (oral rinse), Muscle, skin, or liver tissue, Cultured fibroblasts, Cord blood collected at birth, but not prior to birth)
Genes
BRCA1, BRCA2, CDH1, PALB2, PTEN, STK11, TP53
No of Genes Screened
09
Limitations
This test screens the coding regions (Exons) and Exon/Inton boundaries upto +/- 20 base pairs in the selected genes. Additionally, Deletion/Duplication of promoter regions in PTEN and TP53 gene
BRCA1 and BRCA2 Test
Synopsis
To identify the pathogenic variants in the BRCA1/BRCA2 genes associated with breast cancer or to screen the recurrence of higher risk of developing another breast cancer in the already treated individuals.
Why to Screen
This genetic testing helps in to take decision for cancer-related breast surgeries and/or treatment.
Sample Type
Saliva (2 mL) / Blood Sample (3 mL in EDTA Container) / DNA (Extracted from Frozen blood, Buccal swab/scrape, Saliva, Mouthwash (oral rinse), Muscle, skin, or liver tissue, Cultured fibroblasts, Cord blood collected at birth, but not prior to birth)
Genes
BRCA1 and BRCA2
No of Genes Screened
02
Limitations
This test screens the coding regions (Exons) and Exon/Inton boundaries upto +/- 10 base pairs in the BRCA1 and BRCA2 genes.
Cardiomyopathies (CMPs) are diseases of the myocardium, associated with variable clinical phenotypes and results in heart failure and sudden death in younger group. Major types of cardiomyopathies are hypertrophic cardiomyopathy, dilated cardiomyopathy, restrictive cardiomyopathy, and arrhythmogenic right ventricular cardiomyopathy.
Hypertrophic cardiomyopathy Genetic Test
Synopsis
Hypertrophic cardiomyopathy is the most common cardiovascular conditions caused by mutations in genes encoding cardiac sarcomere proteins. HCM is inherited in an autosomal dominant pattern and characterized primarily by thickening of the heart muscle.
Why to Screen
Genetic testing can provide valuable information for the management and treatment options for the patients affected with HCM and their first-degree relatives.
Sample Type
Blood Sample (3 mL in EDTA Container) / DNA (Extracted from Frozen blood, Buccal swab/scrape, Saliva)
Genes List
A2ML1, ACADVL, ACTC1, ACTN2, AGL, ANKRD1, BAG3, BRAF, CACNA1C, CALR3, CAV3, CBL, CPT2, CSRP3, DES, ELAC2, FHL1, FLNC, GAA, GATA4, GLA, HRAS, JPH2, KRAS, LAMP2, LDB3, MAP2K1, MAP2K2, MTO1, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOM1, MYOZ2, MYPN, NEXN, NF1, NRAS, PDLIM3, PLN, PRKAG2, PTPN11, RAF1, RASA1, RIT1, RRAS, SHOC2, SOS1, SOS2, SPRED1, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTR, VCL
No of Genes Screened
60
Limitations
This test screens the Mutations in the coding regions (Exons) and Exon/Inton boundaries upto +/- 10 base pairs in the selected genes
Dilated Cardiomyopathy Genetic Test
Synopsis
Dilated cardiomyopathy (DCM) is one of the most common among cardiomyopathies inherited by autosomal dominant pattern and characterized by left ventricular dilation and systolic dysfunction.
Why to Screen
Genetic testing can provide valuable insights for the management and treatment options for the patients affected with dilated cardiomyopathy and their first-degree relatives.
Sample Type
Blood Sample (3 mL in EDTA Container) / DNA (Extracted from Frozen blood, Buccal swab/scrape, Saliva)
Genes List
ABCC9, ACADVL, ACTC1, ACTN2, ALMS1, ANKRD1, BAG3, CAV3, CHRM2, CPT2, CRYAB, CSRP3, CTF1, DES, DMD, DNAJC19, DOLK, DSC2, DSG2, DSP, EMD, EYA4, FHL2, FKRP, FKTN, FLNC, GATA4, GATA6, GATAD1, ILK, JUP, LAMA4, LAMP2, LDB3, LMNA, LRRC10, MED12, MYBPC3, MYH6, MYH7, MYPN, NEBL, NEXN, NKX2-5, NPPA, PDLIM3, PKP2, PLEKHM2, PLN, PRDM16, RAF1, RBM20, RYR2, SCN5A, SDHA, SGCD, SLC22A5, TAZ, TCAP, TMEM43, TMEM70, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, TXNRD2, VCL
No of Genes Screened
70
Limitations
This test screens the Mutations in the coding regions (Exons) and Exon/Inton boundaries upto +/- 10 base pairs in the selected genes
Arrhythmogenic right ventricular cardiomyopathy Genetic Test
Synopsis
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is type of cardiomyopathy, inherited by autosomal dominant pattern especially by the genes encoding desmosomal or desmosaml releated proteins. ARVC is primarily characterized by ventricular arrhythmias and an increased risk of sudden cardiac death.
Why to Screen
Genetic testing can provide valuable information for the management and treatment options for the patients affected with ARVC and their first-degree relatives.
Sample Type
Blood Sample (3 mL in EDTA Container) / DNA (Extracted from Frozen blood, Buccal swab/scrape, Saliva)
Genes List
ACTN2, ANKRD1, CTNNA3, DES, DSC2, DSG2, DSP, EMD, FLNC, JUP, LDB3, LMNA, PDLIM3, PKP2, PLN, PRKAG2, RBM20, RYR2, SCN5A, TGFB3, TMEM43, TNNI3, TNNT2, TTN
No of Genes Screened
24
Limitations
This test screens the Mutations in the coding regions (Exons) and Exon/Inton boundaries upto +/- 10 base pairs in the selected genes
Left Ventricular Noncompaction Genetic Test
Synopsis
Identification of a disease causative variants in the genes associated with ARVC in the affected individuals and their immediate family members can provide insights in the progression and management of the disease.
Why to Screen
Genetic testing can provide valuable information for the management and treatment options for the patients affected with ARVC and their first-degree relatives.
Sample Type
Blood Sample (3 mL in EDTA Container) / DNA (Extracted from Frozen blood, Buccal swab/scrape, Saliva)
Genes List
ACTC1, DSP, DTNA, HCN4, LAMP2, LDB3, LMNA, MYBPC3, MYH7, PLEKHM2, PLN, PRDM16, RYR2, SCN5A, TAZ, TNNI3, TNNT2, TPM1, VCL
No of Genes Screened
19
Limitations
This test screens the Mutations in the coding regions (Exons) and Exon/Inton boundaries upto +/- 10 base pairs in the selected genes
Restrictive cardiomyopathy genetic Test
Synopsis
The restrictive cardiomyopathies (RCM) are a rare form of myocardial diseases, primarily results from increased myocardial stiffness that leads to impaired ventricular blood filling. RCM can be caused by either genetic or non-genetic factors
Why to Screen
Genetic screening may provide valuable information regarding the disease causing variants in the patients affected with RCM and their first-degree relatives.
Sample Type
Blood Sample (3 mL in EDTA Container) / DNA (Extracted from Frozen blood, Buccal swab/scrape, Saliva)
Genes List
No Separate Test Available
No of Genes Screened
NA
Limitations
This test screens the Mutations in the coding regions (Exons) and Exon/Inton boundaries upto +/- 10 base pairs in the selected genes
