GENETIC TESTING

Genetic sequencing:
Personalized medicine's next step

SINGLE GENE SEQUENCING

FGF23

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
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

IPMK

METHODOLOGY Sanger Sequencing Analysis of Deletions and Duplications (MLPA), Fragment Length Analysis/96-capillary 3730xl DNA Analyzer from Applied

KRAS

METHODOLOGY Sanger Sequencing Analysis of Deletions and Duplications (MLPA), Fragment Length Analysis/96-capillary 3730xl DNA Analyzer from Applied

MSH3

METHODOLOGY Sanger Sequencing Analysis of Deletions and Duplications (MLPA), Fragment Length Analysis/96-capillary 3730xl DNA Analyzer from Applied

PALB2

METHODOLOGY Sanger Sequencing Analysis of Deletions and Duplications (MLPA), Fragment Length Analysis/96-capillary 3730xl DNA Analyzer from Applied

PTCH2

METHODOLOGY Sanger Sequencing Analysis of Deletions and Duplications (MLPA), Fragment Length Analysis/96-capillary 3730xl DNA Analyzer from Applied

GALNT3

METHODOLOGY Sanger Sequencing Analysis of Deletions and Duplications (MLPA), Fragment Length Analysis/96-capillary 3730xl DNA Analyzer from Applied

KIT

METHODOLOGY Sanger Sequencing Analysis of Deletions and Duplications (MLPA), Fragment Length Analysis/96-capillary 3730xl DNA Analyzer from Applied

MC1R

METHODOLOGY Sanger Sequencing Analysis of Deletions and Duplications (MLPA), Fragment Length Analysis/96-capillary 3730xl DNA Analyzer from Applied

MUTYH

METHODOLOGY Sanger Sequencing Analysis of Deletions and Duplications (MLPA), Fragment Length Analysis/96-capillary 3730xl DNA Analyzer from Applied

PRF1

METHODOLOGY Sanger Sequencing Analysis of Deletions and Duplications (MLPA), Fragment Length Analysis/96-capillary 3730xl DNA Analyzer from Applied

RAD51

METHODOLOGY Sanger Sequencing Analysis of Deletions and Duplications (MLPA), Fragment Length Analysis/96-capillary 3730xl DNA Analyzer from Applied

Segregation analysis (variant confirmation in family members)

METHODOLOGY Sanger Sequencing Analysis of Deletions and Duplications (MLPA), Fragment Length Analysis/96-capillary 3730xl DNA Analyzer from Applied

GERMLINE TUMOR SYNDROMES

Breast and Ovarian cancer – extended (Germline Tumor Syndromes)

METHODOLOGY High throughput sequencing is performed on Illumina platforms TEST DESCRIPTION The panel for genetic tumor syndromes covers

Breast and Ovarian cancer (Germline Tumor Syndromes)

METHODOLOGY High throughput sequencing is performed on Illumina platforms TEST DESCRIPTION The panel for genetic tumor syndromes covers

Colorectal cancer – hereditary nonpolyposis colorectal cancer (HNPCC/Lynch syndrome)

METHODOLOGY High throughput sequencing is performed on Illumina platforms TEST DESCRIPTION The panel for genetic tumor syndromes covers

Colorectal cancer polyposis syndrome

METHODOLOGY High throughput sequencing is performed on Illumina platforms TEST DESCRIPTION The panel for genetic tumor syndromes covers

Colorectal cancer

METHODOLOGY High throughput sequencing is performed on Illumina platforms TEST DESCRIPTION The panel for genetic tumor syndromes covers

Cowden syndrome

METHODOLOGY High throughput sequencing is performed on Illumina platforms TEST DESCRIPTION The panel for genetic tumor syndromes covers

Pancreatic cancer

METHODOLOGY High throughput sequencing is performed on Illumina platforms TEST DESCRIPTION The panel for genetic tumor syndromes covers

Pheochromocytoma and paraganglioma

METHODOLOGY High throughput sequencing is performed on Illumina platforms TEST DESCRIPTION The panel for genetic tumor syndromes covers

Tumors of the central nervous system

METHODOLOGY High throughput sequencing is performed on Illumina platforms TEST DESCRIPTION The panel for genetic tumor syndromes covers

Fanconi anemia

METHODOLOGY High throughput sequencing is performed on Illumina platforms TEST DESCRIPTION The panel for genetic tumor syndromes covers

Gastric cancer

METHODOLOGY High throughput sequencing is performed on Illumina platforms TEST DESCRIPTION The panel for genetic tumor syndromes covers

Large Panel Diagnostic Option

METHODOLOGY Parallel evaluation of ACMG class 4/5 variants in phenotype related genes in complete panel TEST DESCRIPTION For

Large Panel Diagnostic Option

METHODOLOGY Parallel evaluation of ACMG class 4/5 variants in phenotype related genes in complete panel TEST DESCRIPTION For

Large Panel Diagnostic Option

METHODOLOGY Parallel evaluation of ACMG class 4/5 variants in phenotype related genes in complete panel TEST DESCRIPTION For

Melanoma

METHODOLOGY High throughput sequencing is performed on Illumina platforms TEST DESCRIPTION The panel for genetic tumor syndromes covers

Other familial tumor syndromes

METHODOLOGY High throughput sequencing is performed on Illumina platforms TEST DESCRIPTION The panel for genetic tumor syndromes covers

Prostate cancer

METHODOLOGY High throughput sequencing is performed on Illumina platforms TEST DESCRIPTION The panel for genetic tumor syndromes covers

Renal cell carcinoma

METHODOLOGY High throughput sequencing is performed on Illumina platforms TEST DESCRIPTION The panel for genetic tumor syndromes covers

Xeroderma pigmentosum

METHODOLOGY High throughput sequencing is performed on Illumina platforms TEST DESCRIPTION The panel for genetic tumor syndromes covers