Gene singulare

1FGF23
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

2GALNT3

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

3IPMK
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

4KIT
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)

5KRAS

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

6MC1R

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)

7MSH3

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

8MUTYH
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)

9PALB2
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)

10PRF1
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),

11PTCH2
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

12RAD51
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

13Segregation analysis (variant confirmation in family members)
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)

14RET
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