Hematogenetics – Duzen Laboratories Group Genetic Diseases Evaluation Center

Genetic TestsBernard Soulier Syndrome, type C

Test Name & Code: • Test Name: Bernard Soulier Syndrome, type C • Test Code: 5753 Related Diseases & Genes: • Bernard-Soulier syndrome, type C (OMIM #: 231200) || Gene: GP9 (OMIM #: 173515) Synonyms: -none- Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 3 weeks Specimen Details: • Specimen Collection: Peripheral...

Genetic TestsBernard Soulier Syndrome, type B

Test Name & Code: • Test Name: Bernard Soulier Syndrome, type B • Test Code: 5752 Related Diseases & Genes: • Bernard-Soulier syndrome, type B (OMIM #: 231200) || Gene: GP1BB (OMIM #: 138720) Synonyms: -none- Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 3 weeks Specimen Details: • Specimen Collection: Peripheral...

Genetic TestsBernard Soulier Syndrome type A

Test Name & Code: • Test Name: Bernard Soulier Syndrome type A • Test Code: 5751 Related Diseases & Genes: • Bernard-Soulier syndrome, type A1 (recessive) (OMIM #: 231200) || Gene: GP1BA (OMIM #: 606672) • Bernard Soulier Syndrome type A2 (dominant) (OMIM #: 153670) Synonyms: -none- Test Details: • Methodology: DNA Sequencing • Performed:...

Genetic TestsAlpha Thalassemia Deletion/Duplication Analysis

Test Name & Code: • Test Name: Alpha Thalassemia Deletion/Duplication Analysis • Test Code: 5571 Related Diseases & Genes: • Alpha Thalassemias (OMIM #: 604131) || Gene: HBA1 (OMIM #: 141800) Synonyms: • Thalassemia • Mediterranean Anemia Test Details: • Methodology: MLPA • Performed: Everyday • Reported: 4 weeks Specimen Details: • Specimen Collection: Peripheral...

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 TestsDDIT3 Rearrangements

Test Name & Code: • Test Name: DDIT3 Rearrangements • Test Code: 4487 Related Diseases & Genes: • Myxoid liposarcoma (OMIM #: 613488) || Gene: DDIT3 (OMIM #: 126337) Synonyms: • DNA DAMAGE-INDUCIBLE TRANSCRIPT 3 • C/EBP-HOMOLOGOUS PROTEIN • CHOP • GROWTH ARREST- AND DNA DAMAGE-INDUCIBLE GENE GADD153 • GADD153 Test Details: • Methodology: FISH...

Genetic TestsEWSR1 Rearrangements

Test Name & Code: • Test Name: EWSR1 Rearrangements • Test Code: 4486 Related Diseases & Genes: • Ewing sarcoma (OMIM #: 612219) || Gene: EWSR1 (OMIM #: 133450) • Neuroepithelioma (OMIM #: 612219) • Synovial Sarcoma Synonyms: • EWING SARCOMA BREAKPOINT REGION 1 • EWS Test Details: • Methodology: FISH • Performed: Everyday •...

Genetic TestsSS18 Rearrangements

Test Name & Code: • Test Name: SS18 Rearrangements • Test Code: 4485 Related Diseases & Genes: • Synovial Sarcoma (OMIM #: )|| Gene: SS18 (OMIM #: 600192) Synonyms: • “SYNOVIAL SARCOMA TRANSLOCATION, CHROMOSOME 18” • “SYNOVIAL SARCOMA, TRANSLOCATED TO X CHROMOSOME” • SSXT • SYT Test Details: • Methodology: FISH • Performed: Everyday •...

Genetic TestsIGH/MALT1 Fussion

Test Name & Code: • Test Name: IGH/MALT1 Fussion • Test Code: 4484 Related Diseases & Genes: • Malt Lymphoma || Gene: MALT1 (OMIM #: 604860) Synonyms: • MUCOSA-ASSOCIATED LYMPHOID TISSUE LYMPHOMA TRANSLOCATION GENE 1 • MLT • PARACASPASE Test Details: • Methodology: FISH • Performed: Everyday • Reported: 2 weeks Specimen Details: • Specimen...

Genetic TestsPDGFRB Gene Mutations

Test Name & Code: • Test Name: PDGFRB Gene Mutations • Test Code: 4483 Related Diseases & Genes: • “Gastrointestinal stromal tumor, somatic” (OMIM #: 606764) || Gene: PDGFRB (OMIM #: 173410) • Myeloproliferative disorder with eosinophilia (OMIM #: 131440) • “Myofibromatosis, infantile, 1” (OMIM #: 228550) • “Basal ganglia calcification, idiopathic, 4” (OMIM #:...

Genetic TestsPDGFRA Gene Mutations

Test Name & Code: • Test Name: PDGFRA Gene Mutations • Test Code: 4482 Related Diseases & Genes: • “Gastrointestinal stromal tumor, somatic” (OMIM #: 606764) || Gene: PDGFRA (OMIM #: 173490) • “Hypereosinophilic syndrome, idiopathic, resistant to imatinib” (OMIM #: 607685) Synonyms: • “PLATELET-DERIVED GROWTH FACTOR RECEPTOR, ALPHA” • PDGFR2 Test Details: • Methodology:...

Genetic TestsKostmann Disease (HAX1 Gene)

Test Name & Code: • Test Name: Kostmann Disease (HAX1 Gene) • Test Code: 3635 Related Diseases & Genes: • Kostmann Disease (OMIM #: 610738) || Gene: HAX1 (OMIM #: 605998) Synonyms: • HCLS1-Associated Protein X1 • Neutropenia, Severe Congenital, 3, Autosomal Recessive (SCN3) • HAX1 Mutation Analysis • Infantile Agranulocytosis Test Details: • Methodology:...

Genetic TestsCongenital Neutropenia (ELANE Gene)

Test Name & Code: • Test Name: Congenital Neutropenia (ELANE Gene) • Test Code: 3634 Related Diseases & Genes: • “Neutropenia, severe congenital 1, autosomal dominant” (OMIM #: 202700) || Gene: ELANE (OMIM #: 130130) • “Neutropenia, cyclic” (OMIM #: 162800) Synonyms: • Elastase, Neutrophil-Expressed • Elastase 2 (ELA2) Test Details: • Methodology: DNA Sequencing...

Genetic TestsSTX11 (Syntaxin 11) Gene Sequence Analysis

Test Name & Code: • Test Name: STX11 (Syntaxin 11) Gene Sequence Analysis • Test Code: 3617 Related Diseases & Genes: • Hemophagocytic lymphohistiocytosis, familial, 4 (OMIM #: 603552) || Gene: STX11 (OMIM #: 605014) Synonyms: • FHL4 Test Details: • Methodology: DNA Sequencing • Reported: 3 weeks Specimen Details: • Specimen Collection: Peripheral blood...

Genetic TestsPerforin Gene Sequence Analysis

Test Name & Code: • Test Name: Perforin Gene Sequence Analysis • Test Code: 3615 Related Diseases & Genes: • “Hemophagocytic lymphohistiocytosis, familial, 2” (OMIM #: 603553) || Gene: PRF1 (OMIM #: 170280) Synonyms: • Perforin 1 • Pore-Forming Protein (PFP) • PFN1 • FHL2 Test Details: • Methodology: DNA Sequencing • Reported: 3 weeks...

Genetic TestsMUNC13-4 (UNC13) Gene Sequence Analysis

Test Name & Code: • Test Name: MUNC13-4 (UNC13) Gene Sequence Analysis • Test Code: 3614 Related Diseases & Genes: • Hemophagocytic lymphohistiocytosis, familial, 3 (OMIM #: 608898) || Gene: UNC13 (OMIM #: 608898) Synonyms: • MUNC13-4 • “UNC13, C. elegans, Homolog of” • FHL3 Test Details: • Methodology: DNA Sequencing • Reported: 3 weeks...

Genetic TestsBeta-Thalassemias deletion/duplication analysis

Test Name & Code: • Test Name: Beta-Thalassemias deletion/duplication analysis • Test Code: 3265 Related Diseases & Genes: • Beta Thalassemias (OMIM #: 613985) || Gene: HBB (OMIM #: 141900) Synonyms: • Thalassemia • Mediterranean Anemia Test Details: • Methodology: MLPA • Performed: Everyday • Reported: 3 weeks Specimen Details: • Specimen Collection: Peripheral blood...

Genetic TestsMPL Mutation Analysis

Test Name & Code: • Test Name: MPL Mutation Analysis • Test Code: 3194 Related Diseases & Genes: • “Thrombocytopenia, congenital amegakaryocytic” (OMIM #: 604498) || Gene: MPL (OMIM #: 159530) Synonyms: • Thrombopoietin Receptor (TPOR) • CAMT Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 3 weeks Specimen Details: • Specimen...

Genetic TestsAlpha Thalassemia Mutation Screening

Test Name & Code: • Test Name: Alpha Thalassemia Mutation Screening • Test Code: 3131 Related Diseases & Genes: • Alpha Thalassemias (OMIM #: 604131) || Gene: HBA1 (OMIM #: 141800) Synonyms: • Thalassemia • Mediterranean Anemia Test Details: • Methodology: Strip Test • Performed: Everyday • Reported: 1 week Specimen Details: • Specimen Collection:...

Genetic TestsHBB Mutation Analysis

Test Name & Code: • Test Name: HBB Mutation Analysis • Test Code: 3121 Related Diseases & Genes: • Sickle cell anemia (OMIM #: 603903) || Gene: HBB (OMIM #: 141900) Synonyms: • Hemoglobin Beta Test Details: • Methodology: PCR-RFLP • Performed: Everyday • Reported: 1 week Specimen Details: • Specimen Collection: Peripheral blood • Container: Tube...

Genetic TestsBeta-Thalassemias (Hemoglobin Beta Gene) Sequence Analysis

Test Name & Code: • Test Name: Beta-Thalassemias (Hemoglobin Beta Gene) Sequence Analysis • Test Code: 3114 Related Diseases & Genes: • Beta Thalassemias (OMIM #: 613985) || Gene: HBB (OMIM #: 141900) Synonyms: • Thalassemia • Mediterranean Anemia Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 1 week Specimen Details: •...

Genetic TestsShwachman-Diamond SBDS Sequence Analysis

Test Name & Code: • Test Name: Shwachman-Diamond SBDS Sequence Analysis • Test Code: 2988 Related Diseases & Genes: • Shwachman-Diamond Syndrome (OMIM #: 260400) || Gene: SBDS (OMIM #: 607444) Synonyms: • PANCREATIC INSUFFICIENCY AND BONE MARROW DYSFUNCTION • SHWACHMAN-BODIAN SYNDROME • LIPOMATOSIS OF PANCREAS, CONGENITAL • SDS • SWDS • CGI-97 Test Details:...

Genetic TestsCSF3R mutasyonları

Test Name & Code: • Test Name: CSF3R mutasyonları • Test Code: 2985 Related Diseases & Genes: • Hereditary Neutrophilia (OMIM #: 162830) || Gene: CSF3R (OMIM #: 138971) • Severe Congenital Neutropenia-1 (OMIM #: 202700) • Severe Congenital Neutropenia-3 (OMIM #: 610738) Synonyms: • GCSFR • SCN1 • SCN3 Test Details: • Methodology: DNA...