METHODOLOGY
Sanger Sequencing
- Analysis of Deletions and Duplications (MLPA),
- Fragment Length Analysis/96-capillary 3730xl DNA Analyzer from Applied Biosystems,
- Sequencing of all coding exons of the gene
TEST DESCRIPTION
Sanger sequencing is particularly useful for small-scale applications, such as single gene testing. After amplification of the DNA coding segments and adjacent regions via PCR, sequencing is performed using a 96-capillary 3730xl DNA Analyzer from Applied Biosystems
CLINICAL SIGNIFICANCE
Tumoral calcinosis, hyperphosphatemic, familial Osteomalacia, tumor-induced
SPECIMEN REQUIREMENTS
1-2 ml of EDTA blood or 1-2 µg genomic DNA is required for analysis
TURNAROUND TIME
Processing time: 2-4 weeks
RELATED TESTS
Somatic Tumor Panel for treatment decision support, Whole Exome Analysis
METHODOLOGY
Sanger Sequencing
- Fragment Length Analysis/96-capillary 3730xl DNA Analyzer from Applied Biosystems,
- Sequencing of all coding exons of the gene
TEST DESCRIPTION
Sanger sequencing is particularly useful for small-scale applications, such as single gene testing. After amplification of the DNA coding segments and adjacent regions via PCR, sequencing is performed using a 96-capillary 3730xl DNA Analyzer from Applied Biosystems
CLINICAL SIGNIFICANCE
Tumoral calcinosis
SPECIMEN REQUIREMENTS
1-2 ml of EDTA blood or 1-2 µg genomic DNA is required for analysis
TURNAROUND TIME
Processing time: 2-4 weeks
RELATED TESTS
Somatic Tumor Panel for treatment decision support, Whole Exome Analysis
METHODOLOGY
Sanger Sequencing
- Fragment Length Analysis/96-capillary 3730xl DNA Analyzer from Applied Biosystems,
- Sequencing of all coding exons of the gene
TEST DESCRIPTION
Sanger sequencing is particularly useful for small-scale applications, such as single gene testing. After amplification of the DNA coding segments and adjacent regions via PCR, sequencing is performed using a 96-capillary 3730xl DNA Analyzer from Applied Biosystems
CLINICAL SIGNIFICANCE
Hereditary neuroendocrine tumor of small intestine
SPECIMEN REQUIREMENTS
1-2 ml of EDTA blood or 1-2 µg genomic DNA is required for analysis
TURNAROUND TIME
Processing time: 2-4 weeks
RELATED TESTS
Somatic Tumor Panel for treatment decision support, Whole Exome Analysis
METHODOLOGY
Sanger Sequencing
- Analysis of Deletions and Duplications (MLPA),
- Fragment Length Analysis/96-capillary 3730xl DNA Analyzer from Applied Biosystems,
- Sequencing of all coding exons of the gene
TEST DESCRIPTION
Sanger sequencing is particularly useful for small-scale applications, such as single gene testing. After amplification of the DNA coding segments and adjacent regions via PCR, sequencing is performed using a 96-capillary 3730xl DNA Analyzer from Applied Biosystems
CLINICAL SIGNIFICANCE
- Gastrointestinal stromal tumor, familial
- Germ cell tumors
- Leukemia, acute myeloid
SPECIMEN REQUIREMENTS
1-2 ml of EDTA blood or 1-2 µg genomic DNA is required for analysis
TURNAROUND TIME
Processing time: 2-4 weeks
RELATED TESTS
Somatic Tumor Panel for treatment decision support, Gastrointestinal stromal tumors (Molecular Pathology)
METHODOLOGY
Sanger Sequencing
- Fragment Length Analysis/96-capillary 3730xl DNA Analyzer from Applied Biosystems,
- Sequencing of all coding exons of the gene
TEST DESCRIPTION
Sanger sequencing is particularly useful for small-scale applications, such as single gene testing. After amplification of the DNA coding segments and adjacent regions via PCR, sequencing is performed using a 96-capillary 3730xl DNA Analyzer from Applied Biosystems
CLINICAL SIGNIFICANCE
- Breast cancer, somatic
- Noonan syndrome
SPECIMEN REQUIREMENTS
1-2 ml of EDTA blood or 1-2 µg genomic DNA is required for analysis
TURNAROUND TIME
Processing time: 2-4 weeks
RELATED TESTS
Colorectal cancer, Gastric cancer, Pancreatic cancer, Somatic Tumor Panel for treatment decision support, Colorectal cancer/gastric cancer (Molecular Pathology), Lung cancer (Molecular Pathology), Pancreatic cancer (Molecular Pathology), Cholangiocellular carcinoma (Molecular Pathology), Tumor Immuno-Oncology Analysis (TMB and MSI), Whole Exome Analysis
METHODOLOGY
Sanger Sequencing
- Fragment Length Analysis/96-capillary 3730xl DNA Analyzer from Applied Biosystems,
- Sequencing of all coding exons of the gene
TEST DESCRIPTION
Sanger sequencing is particularly useful for small-scale applications, such as single gene testing. After amplification of the DNA coding segments and adjacent regions via PCR, sequencing is performed using a 96-capillary 3730xl DNA Analyzer from Applied Biosystems
CLINICAL SIGNIFICANCE
- Melanoma,
- Cutaneous malignant, 5
SPECIMEN REQUIREMENTS
1-2 ml of EDTA blood or 1-2 µg genomic DNA is required for analysis
TURNAROUND TIME
Processing time: 2-4 weeks
RELATED TESTS
Melanoma (Germline Tumor Syndromes)
METHODOLOGY
Sanger Sequencing
- Fragment Length Analysis/96-capillary 3730xl DNA Analyzer from Applied Biosystems,
- Sequencing of all coding exons of the gene
TEST DESCRIPTION
Sanger sequencing is particularly useful for small-scale applications, such as single gene testing. After amplification of the DNA coding segments and adjacent regions via PCR, sequencing is performed using a 96-capillary 3730xl DNA Analyzer from Applied Biosystems
CLINICAL SIGNIFICANCE
- Endometrial carcinoma,
- Somatic
SPECIMEN REQUIREMENTS
1-2 ml of EDTA blood or 1-2 µg genomic DNA is required for analysis
TURNAROUND TIME
Processing time: 2-4 weeks
RELATED TESTS
Colorectal cancer, Colorectal cancer polyposis syndrome, Colorectal cancer - hereditary nonpolyposis colorectal cancer, Somatic Tumor Panel for treatment decision support, Colorectal cancer/gastric cancer (Molecular Pathology), Whole Exome Analysis
METHODOLOGY
Sanger Sequencing
- Analysis of Deletions and Duplications (MLPA),
- Fragment Length Analysis/96-capillary 3730xl DNA Analyzer from Applied Biosystems,
- Sequencing of all coding exons of the gene
TEST DESCRIPTION
Sanger sequencing is particularly useful for small-scale applications, such as single gene testing. After amplification of the DNA coding segments and adjacent regions via PCR, sequencing is performed using a 96-capillary 3730xl DNA Analyzer from Applied Biosystems
CLINICAL SIGNIFICANCE
- Colorectal adenomatous polyposis
SPECIMEN REQUIREMENTS
1-2 ml of EDTA blood or 1-2 µg genomic DNA is required for analysis
TURNAROUND TIME
Processing time: 2-4 weeks
RELATED TESTS
Colorectal cancer, Colorectal cancer polyposis syndrome, Colorectal cancer - hereditary nonpolyposis colorectal cancer, Prostate cancer, Tumor Immuno-Oncology Analysis (TMB and MSI), Somatic Tumor Panel for treatment decision support, Colorectal cancer/gastric cancer (Molecular Pathology), Whole Exome Analysis, Breast and ovarian cancer, Breast and ovarian cancer - extended, Breast - and Ovarial carcinoma (Molecular Pathology), Lung cancer (Molecular Pathology)
METHODOLOGY
Sanger Sequencing
- Analysis of Deletions and Duplications (MLPA),
- Fragment Length Analysis/96-capillary 3730xl DNA Analyzer from Applied Biosystems,
- Sequencing of all coding exons of the gene
TEST DESCRIPTION
Sanger sequencing is particularly useful for small-scale applications, such as single gene testing. After amplification of the DNA coding segments and adjacent regions via PCR, sequencing is performed using a 96-capillary 3730xl DNA Analyzer from Applied Biosystems
CLINICAL SIGNIFICANCE
- Hereditary Breast Cancer
SPECIMEN REQUIREMENTS
1-2 ml of EDTA blood or 1-2 µg genomic DNA is required for analysis
TURNAROUND TIME
Processing time: 2-4 weeks
RELATED TESTS
Colorectal cancer, Pancreatic cancer, Breast and ovarian cancer, Breast and ovarian cancer - extended, Prostate cancer, Renal cell carcinoma, Somatic Tumor Panel for treatment decision support, Colorectal cancer/gastric cancer (Molecular Pathology), Breast - and Ovarial carcinoma (Molecular Pathology), Pancreatic cancer (Molecular Pathology), Whole Exome Analysis, Tumor Immuno-Oncology Analysis (TMB and MSI)
METHODOLOGY
Sanger Sequencing
- Fragment Length Analysis/96-capillary 3730xl DNA Analyzer from Applied Biosystems,
- Sequencing of all coding exons of the gene
TEST DESCRIPTION
Sanger sequencing is particularly useful for small-scale applications, such as single gene testing. After amplification of the DNA coding segments and adjacent regions via PCR, sequencing is performed using a 96-capillary 3730xl DNA Analyzer from Applied Biosystems
CLINICAL SIGNIFICANCE
- Hemophagocytic lymphohistiocytosis,
- Familial,
- 2 Lymphoma,
- Non-Hodgkin
SPECIMEN REQUIREMENTS
1-2 ml of EDTA blood or 1-2 µg genomic DNA is required for analysis
TURNAROUND TIME
Processing time: 2-4 weeks
RELATED TESTS
Somatic Tumor Panel for treatment decision support, Gastrointestinal stromal tumors (Molecular Pathology),
METHODOLOGY
Sanger Sequencing
- Fragment Length Analysis/96-capillary 3730xl DNA Analyzer from Applied Biosystems,
- Sequencing of all coding exons of the gene
TEST DESCRIPTION
Sanger sequencing is particularly useful for small-scale applications, such as single gene testing. After amplification of the DNA coding segments and adjacent regions via PCR, sequencing is performed using a 96-capillary 3730xl DNA Analyzer from Applied Biosystems
CLINICAL SIGNIFICANCE
- Basal cell carcinoma,
- Somatic
SPECIMEN REQUIREMENTS
1-2 ml of EDTA blood or 1-2 µg genomic DNA is required for analysis
TURNAROUND TIME
Processing time: 2-4 weeks
RELATED TESTS
Somatic Tumor Panel for treatment decision support, Whole Exome Analysis
METHODOLOGY
Sanger Sequencing
- Fragment Length Analysis/96-capillary 3730xl DNA Analyzer from Applied Biosystems,
- Sequencing of all coding exons of the gene
TEST DESCRIPTION
Sanger sequencing is particularly useful for small-scale applications, such as single gene testing. After amplification of the DNA coding segments and adjacent regions via PCR, sequencing is performed using a 96-capillary 3730xl DNA Analyzer from Applied Biosystems
CLINICAL SIGNIFICANCE
RAD51D-Related Familial Susceptibility to Breast-Ovarian Cancer
SPECIMEN REQUIREMENTS
1-2 ml of EDTA blood or 1-2 µg genomic DNA is required for analysis
TURNAROUND TIME
Processing time: 2-4 weeks
RELATED TESTS
Breast and ovarian cancer, Breast and ovarian cancer - extended, Pancreatic cancer, Tumors of the central nervous system, Somatic Tumor Panel for treatment decision support, Breast - and Ovarial carcinoma (Molecular Pathology), Pancreatic cancer (Molecular Pathology), Lung cancer (Molecular Pathology), Whole Exome Analysis
TEST DESCRIPTION
Family analysis (segregation analysis), in which are only determined the presence of the rare variants identified in the patient in additional family members.
SPECIMEN REQUIREMENTS
EDTA blood (min. 5 ml) or DNA (min. 1µg)
TURNAROUND TIME
Processing time: 2-4 weeks
RELATED TESTS
Somatic Tumor Panel for treatment decision support, Prevention Panel (tumor diseases, cardiovascular diseases, thrombosis and coagulation disorders, iron-and copper storage diseases, hypercholesteremia, glaucoma, pharmacogenetics and malignant hyperthermia)
METHODOLOGY
Sanger Sequencing;
- Analysis of Deletions and Duplications(MLPA),
- Fragment Length Analysis/96-capillary 3730xl DNA Analyzer from Applied Biosystems,
- Sequencing of all coding exons of the gene
- Deletion and duplication analysis
CLINICAL SIGNIFICANCE
Hirschsprung disease, multiple endocrine neoplasia type 2 (MEN 2),
Familial medullary thyroid carcinoma (FMTC)
TEST DESCRIPTION
Sanger sequencing is particularly useful for small-scale applications, such as single gene testing. After amplification of the DNA coding segments and adjacent regions via PCR, sequencing is performed using a 96-capillary 3730xl DNA Analyzer from Applied Biosystems
SPECIMEN REQUIREMENTS
1-2 ml of EDTA blood or 1-2 µg genomic DNA is required for analysis
TURNAROUND TIME
Processing time: 2-4 weeks
RELATED TESTS
Somatic Tumor Panel for treatment decision support