Cardiology – Duzen Laboratories Group Genetic Diseases Evaluation Center

Genetic TestsHOLT-ORAM TBX5 Sequencing

Test Name & Code: • Test Name: HOLT-ORAM TBX5 Sequencing • Test Code: 4836 Related Diseases & Genes: • Holt-Oram syndrome (OMIM #: 142900) || Gene: TBX5 (OMIM #: 601620) Synonyms: • T-BOX 5 Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 4 weeks Specimen Details: • Specimen Collection: Peripheral blood •...

Genetic TestsWhole Exome Sequencing (WES)

Test Name & Code: • Test Name: Whole Exome Sequencing (WES) • Test Code: 4778 Related Diseases & Genes: -not applicable- Synonyms: -none- Test Details: • Methodology: Next Generation DNA Sequencing • Performed: Everyday • Reported: 9 weeks Specimen Details: • Specimen Collection: Peripheral blood • Container: Tube with EDTA • Specimen Volume/Amount: > 5...

Genetic TestsKCNQ1 Sequencing

Test Name & Code: • Test Name: KCNQ1 Sequencing • Test Code: 4178 Related Diseases & Genes: • Long QT Syndrome 1 (OMIM #: 192500) || Gene: KCNQ1 (OMIM #: 607542) • Short QT Syndrome 2 (OMIM #: 609621) • Jervell and Lange-Nielsen Syndrome (OMIM #: 220400) • Familial Atrial Fibrillation (OMIM #: 607554) Synonyms:...

Genetic TestsKCNH2 Sequencing

Test Name & Code: • Test Name: KCNH2 Sequencing • Test Code: 4177 Related Diseases & Genes: • Long QT Syndrome 2 (OMIM #: 613688) || Gene: KCNH2 (OMIM #: 152427) • Short QT Syndrome 1 (OMIM #: 609620) Synonyms: -none- Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 3 weeks Specimen...

Genetic TestsKCNE1 Sequencing

Test Name & Code: • Test Name: KCNE1 Sequencing • Test Code: 4176 Related Diseases & Genes: • Long QT Syndrome 5 (OMIM #: 613695) || Gene: KCNE1 (OMIM #: 176261) • Jervell and Lange-Nielsen Syndrome (OMIM #: 612347) Synonyms: -none- Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 3 weeks Specimen...

Genetic TestsFamilial Hypercholesterolemia Genetic Panel

Test Name & Code: • Test Name: Familial Hypercholesterolemia Genetic Panel • Test Code: 3880 Related Diseases & Genes: • HYPERCHOLESTEROLEMIA, FAMILIAL (OMIM #: 143890) || Gene: LDLR (OMIM #: 606945) • Hypercholesterolemia, familial, 3 (OMIM #: 603776) || Gene: PCSK9 (OMIM #: 607786) • Hyperlipoproteinemia, type III (OMIM #: ) || Gene: APOE (OMIM...

Genetic TestsGenetic Arrhythmia Panel

Test Name & Code: • Test Name: Genetic Arrhythmia Panel • Test Code: 3599 Related Diseases & Genes: • “ATRIAL FIBRILLATION, FAMILIAL, 12; ATFB12” (OMIM #: 614050) || Gene: ABCC9 (OMIM #: 601439) • Long QT Syndrome 1 (OMIM #: 192500) || Gene: KCNE1 (OMIM #: 176261) • Short QT Syndrome 2 (OMIM #: 609621)...

Genetic TestsFamilial Hypertrophic Cardiomyopathy Panel

Test Name & Code: • Test Name: Familial Hypertrophic Cardiomyopathy Panel • Test Code: 3598 Related Diseases & Genes: • “CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4; CMH4” (OMIM #: 115197) || Gene: MYBPC3 (OMIM #: 600958) • “CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1; CMH1” (OMIM #: 192600) || Gene: MYH7 (OMIM #: 160760) • “CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2; CMH2”...

Genetic TestsChromosome Analysis in Peripheral Blood

Test Name & Code: • Test Name: Chromosome Analysis in Peripheral Blood • Test Code: 3202 Related Diseases & Genes: -not applicable- Synonyms: • Chromosome Analysis from Peripheral Blood • Karyotyping Analysis (peripheral blood) • Conventional Cytogenetics (peripheral blood) • Cytogenetic Evaluation (peripheral blood) Test Details: • Methodology: Cytogenetics; 72 hours induced tissue culture •...

Genetic TestsMARFAN Syndrome (FBN1 Gene DNA Sequence Analysis)

Test Name & Code: • Test Name: MARFAN Syndrome (FBN1 Gene DNA Sequence Analysis) • Test Code: 2405 Related Diseases & Genes: • Marfan syndrome (OMIM #: 154700) || Gene: FBN1 (OMIM #: 134797) Synonyms: • MARFAN SYNDROME, TYPE I; MFS1 Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 1 week Specimen Details:...