Test Name & Code: • Test Name: FGFR2 sequencing • Test Code: 3185 Related Diseases & Genes: • Crouzon (OMIM #: 123500) || Gene: FGFR2 (OMIM #: 176943) • Apert syndrome (OMIM #: 101200) • Pfeiffer syndrome (OMIM #: 101600) • Jackson-Weiss syndrome (OMIM #: 123150) • Beare-Stevenson (OMIM #: 123790) Synonyms: -none- Test Details:...
Test Name & Code: • Test Name: FGFR1 Sequencing • Test Code: 3184 Related Diseases & Genes: • Pfeiffer syndrome (OMIM #: 101600) || Gene: FGFR1 (OMIM #: 136350) • Jackson-Weiss syndrome (OMIM #: 123150) • Trigonocephaly 1 (OMIM #: 190440) • Osteoglophonic Dysplasia (OMIM #: 166250) • Autosomal dominant Kallmann syndrome 2 (OMIM #:...
Test Name & Code: • Test Name: Adrenoleukodystrophy (ABCD1 Gene) • Test Code: 3183 Related Diseases & Genes: • ADRENOLEUKODYSTROPHY (OMIM #: 300100) || Gene: ABCD1 (OMIM #: 300371) Synonyms: • Addison Disease and Cerebral Sclerosis • X-ALD • X-linked adrenoleukodystrophy • ABCD1 Mutations Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported:...
Test Name & Code: • Test Name: Waardenburg Syndrome • Test Code: 3182 Related Diseases & Genes: • Waardenburg syndrome, type 1 (OMIM #: 193500) || Gene: PAX3 (OMIM #: 606597) Synonyms: • WAARDENBURG SYNDROME WITH DYSTOPIA CANTHORUM • PAX3 Mutations Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 2-3 weeks Specimen Details: •...
Test Name & Code: • Test Name: CONNEXIN26 Mutations • Test Code: 3181 Related Diseases & Genes: • Bart-Pumphrey syndrome (OMIM #: 149200) || Gene: GJB2 (OMIM #: 121011) • “Deafness, autosomal dominant 3A” (OMIM #: 601544) • “Deafness, autosomal recessive 1A” (OMIM #: 220290) • Hystrix-like ichthyosis with deafness (OMIM #: 602540) Synonyms: •...
Test Name & Code: • Test Name: Inversion (16)(p13;q22) / Translocation (16;16)(p13;q22) (PCR) • Test Code: 3134 Related Diseases & Genes: • “LEUKEMIA, ACUTE MYELOID” (OMIM #: 601626) || Gene: MYH11 (OMIM #: 160745) || Gene: CBFB (OMIM #: 121360) Synonyms: • Inversion (16)(p13;q22) • inv (16)(p13;q22) • CBFB Rearrangement Test Details: • Methodology: qRT-PCR...
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:...
Test Name & Code: • Test Name: Translocation (15;17)(q22;q21) (PCR) • Test Code: 3130 Related Diseases & Genes: • “Leukemia, acute myelogenous” (OMIM #: 601626) || Gene: PML (OMIM #: 102578) || Gene: RARA (OMIM #: 180240) Synonyms: • t(15;17)(q22;q21) • PML/RARA fusion Test Details: • Methodology: RT-PCR • Performed: Thursdays • Reported: 1 week...
Test Name & Code: • Test Name: Translocation (8;21)(q22; q22) (PCR) • Test Code: 3129 Related Diseases & Genes: • “Leukemia, acute myelogenous” (OMIM #: 601626) || Gene: RUNX1 (OMIM #: 151385) || Gene: RUNX1T1 (OMIM #: 133435) Synonyms: • t(8;21)(q22;q22) • ETO/AML1 Fusion Test Details: • Methodology: RT-PCR • Performed: Thursdays • Reported: 1...
Test Name & Code: • Test Name: Familial Mediterranean Fever Mutation Analysis • Test Code: 3122 Related Diseases & Genes: • “Familial Mediterranean fever, AD” (OMIM #: 134610) || Gene: MEFV (OMIM #: 608107) • “Familial Mediterranean fever, AR” (OMIM #: 249100) Synonyms: • FMF Genetic Analysis • MEFV Strip Test Test Details: • Methodology:...
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...
Test Name & Code: • Test Name: Determination of Maternal Contamination • Test Code: 3120 Related Diseases & Genes: -not applicable- Synonyms: -none- Test Details: • Methodology: Fragment Analysis • Performed: Everyday • Reported: 1 week Specimen Details: • Specimen Collection: Amniotic fluid/liquid and Maternal/Paternal Blood • Specimen Volume/Amount: > 3 ml • Storage/Transport Condition:...
Test Name & Code: • Test Name: Plasminogen Activator Inhibitor 1 Polymorphism • Test Code: 3119 Related Diseases & Genes: • Plasminogen activator inhibitor-1 deficiency (OMIM #: 613329) || Gene: PAI1 (OMIM #: 173360) Synonyms: • PLASMINOGEN ACTIVATOR INHIBITOR 1 • “SERPIN PEPTIDASE INHIBITOR, CLADE E (NEXIN, PLASMINOGEN ACTIVATOR INHIBITOR TYPE 1), MEMBER 1 (SERPINE1)” • PAI1 Polymorphism Test Details:...
Test Name & Code: • Test Name: FGFR3 Sequence Analysis • Test Code: 3116 Related Diseases & Genes: • Achondroplasia (OMIM #: 100800) || Gene: FGFR3 (OMIM #: 134934) • “Bladder cancer, somatic” (OMIM #: 109800) • CATSHL syndrome (OMIM #: 610474) • “Cervical cancer, somatic” (OMIM #: 603956) Synonyms: • Fibroblast Growth Factor Receptor...
Test Name & Code: • Test Name: Familial Mediterranean Fever Gene Sequence Analysis • Test Code: 3115 Related Diseases & Genes: • “Familial Mediterranean fever, AD” (OMIM #: 134610) || Gene: MEFV (OMIM #: 608107) • “Familial Mediterranean fever, AR” (OMIM #: 249100) Synonyms: • FMF Genetic Analysis • MEFV Gene Sequence Analysis • Familial...
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: •...
Test Name & Code: • Test Name: Alpha-1-Antitrypsin Genotype Determination (M, S, Z Alleles) • Test Code: 3111 Related Diseases & Genes: • Emphysema-cirrhosis, due to AAT deficiency (OMIM #: 613490) || Gene: SERPINA1 (OMIM #: 107400) • Emphysema due to AAT deficiency (OMIM #: 613490) Synonyms: • A1AT Deficiency • AAT Deficiency • “Serpin...
Test Name & Code: • Test Name: ACE I/D Polymorphism • Test Code: 3110 Related Diseases & Genes: • “Hypertension, essential, salt-sensitive” (OMIM #: 145500) || Gene: ACE (OMIM #: 106180) Synonyms: • ANGIOTENSIN I-CONVERTING ENZYME • ACE1 • DIPEPTIDYL CARBOXYPEPTIDASE 1 (DCP1) Test Details: • Methodology: PCR-RFLP • Performed: Everyday • Reported: 1 week...
Test Name & Code: • Test Name: Hypochondroplasia Mutation Analysis • Test Code: 3109 Related Diseases & Genes: • Hypochondroplasia (OMIM #: 146000) || Gene: FGFR3 (OMIM #: 134934) Synonyms: • FIBROBLAST GROWTH FACTOR RECEPTOR 3 Test Details: • Methodology: PCR-RFLP • Performed: Everyday • Reported: 2 weeks Specimen Details: • Specimen Collection: Peripheral blood...
Test Name & Code: • Test Name: MTHFR A1298C Mutation Analysis • Test Code: 3108 Related Diseases & Genes: • Homocystinuria due to MTHFR deficiency (OMIM #: 236250) || Gene: MTHFR (OMIM #: 607093) Synonyms: • 5,10-METHYLENETETRAHYDROFOLATE REDUCTASE • METHYLENETETRAHYDROFOLATE A1298C Test Details: • Methodology: RT-PCR • Performed: Everyday • Reported: Next day (18:00) Specimen Details: •...
Test Name & Code: • Test Name: MTHFR C677T Mutation Analysis • Test Code: 3106 Related Diseases & Genes: • Homocystinuria due to MTHFR deficiency (OMIM #: 236250) || Gene: MTHFR (OMIM #: 607093) Synonyms: • “5,10-METHYLENETETRAHYDROFOLATE REDUCTASE” • METHYLENETETRAHYDROFOLATE C677T Test Details: • Methodology: RT-PCR • Performed: Everyday • Reported: Next day (18:00) Specimen Details: •...
Test Name & Code: • Test Name: Prothrombin (Factor II) Mutation Analysis • Test Code: 3105 Related Diseases & Genes: • Thrombophilia due to thrombin defect (OMIM #: 188050) || Gene: F2 (OMIM #: 176930) Synonyms: • COAGULATION FACTOR II • G20210A • Factor II G20210A Mutation Analysis Test Details: • Methodology: RT-PCR • Performed:...
Test Name & Code: • Test Name: Factor V Leiden Mutation • Test Code: 3102 Related Diseases & Genes: • Factor V deficiency (OMIM #: 227400) || Gene: F5 (OMIM #: 612309) • Thrombophilia due to activated protein C resistance (OMIM #: 188055) Synonyms: • COAGULATION FACTOR V • Factor V G1691A Mutation Analysis • ACTIVATED...
Test Name & Code: • Test Name: Achondroplasia Mutation Analysis (FGFR3 Gene) • Test Code: 3101 Related Diseases & Genes: • Achondroplasia (OMIM #: 100800) || Gene: FGFR3 (OMIM #: 134934) Synonyms: -none- Test Details: • Methodology: PCR-RFLP • Performed: Everyday • Reported: 2 weeks Specimen Details: • Specimen Collection: Peripheral blood • Container: Tube...
Test Name & Code: • Test Name: SMA Mutation Analysis • Test Code: 3098 Related Diseases & Genes: • Spinal muscular atrophy-1 (OMIM #: 253300) || Gene: SMN1 (OMIM #: 600354) Synonyms: • Spinal Muscular Atrophy Mutation Analysis • SMN Gene Deletion Analysis • SMA Exon 7 Deletion • SMA Exon 8 Deletion Test Details:...
Test Name & Code: • Test Name: DMD/BMD Deletion Analysis • Test Code: 3096 Related Diseases & Genes: • MUSCULAR DYSTROPHY, DUCHENNE TYPE (OMIM #: 310200) • MUSCULAR DYSTROPHY, BECKER TYPE (OMIM #: 300376) Synonyms: • Duchenne muscular dystrophy (DMD) Deletion Analysis • Becker muscular dystrophy (BMD) Deletion Analysis • Muscular Dystrophy Duchenne (DMD) DeletionAnalysis • Muscular Dystrophy Becker (BMD) DeletionAnalysis...
Test Name & Code: • Test Name: Trisomy 12 • Test Code: 3087 Related Diseases & Genes: • LEUKEMIA, CHRONIC LYMPHOCYTIC; CLL (OMIM #: 151400) • Non-Hodgkin lymphoma, somatic (OMIM #: 605027) Synonyms: • Trisomy 12 • 12 Test Details: • Methodology: FISH • Performed: Everyday • Reported: 1 week Specimen Details: • Specimen Collection:...
Test Name & Code: • Test Name: Pediatric ALL Panel • Test Code: 3086 Related Diseases & Genes: • LEUKEMIA, ACUTE LYMPHOBLASTIC; ALL (OMIM #: 613065) Synonyms: • Child Acute Lymphocytic Leukemia Panel Test Details: • Methodology: RT-PCR; FISH • Performed: Everyday • Reported: 1 week Specimen Details: • Specimen Collection: Peripheral blood; Bone marrow...
Test Name & Code: • Test Name: Pediatric MDS Panel • Test Code: 3084 Related Diseases & Genes: • MYELODYSPLASTIC SYNDROME; MDS (OMIM #: 614286) Synonyms: • Child Myelodysplastic Syndrome Panel Test Details: • Methodology: FISH • Performed: Everyday • Reported: 1 week Specimen Details: • Specimen Collection: Peripheral blood; Bone marrow aspiration material; Bone...
Test Name & Code: • Test Name: Trisomy 10 • Test Code: 3083 Related Diseases & Genes: • LEUKEMIA, ACUTE LYMPHOBLASTIC; ALL (OMIM #: 613065) Synonyms: • Trisomy 10 • 10 Test Details: • Methodology: FISH • Performed: Everyday • Reported: 1 week Specimen Details: • Specimen Collection: Peripheral blood; Bone marrow aspiration material; Bone...
Test Name & Code: • Test Name: 11q23 MLL Mutations • Test Code: 3082 Related Diseases & Genes: • “LEUKEMIA, ACUTE LYMPHOBLASTIC; ALL” (OMIM #: 613065) || Gene: MLL (OMIM #: 159555) • “LEUKEMIA, ACUTE MYELOID” (OMIM #: 601626) • “Non-Hodgkin lymphoma, somatic” (OMIM #: 605027) Synonyms: • 11q23 rearrangement • MLL Deletion • del...
Test Name & Code: • Test Name: Pediatric AML Panel • Test Code: 3078 Related Diseases & Genes: • “Leukemia, acute myeloid” (OMIM #: 601626) Synonyms: • Child Acute Myeloid Leukemia Test Details: • Methodology: FISH • Performed: Everyday • Reported: 1 week Specimen Details: • Specimen Collection: Peripheral blood; Bone marrow aspiration material; Bone...
Test Name & Code: • Test Name: Monosomy 5/ Deletion 5q • Test Code: 3077 Related Diseases & Genes: • MYELODYSPLASTIC SYNDROME; MDS (OMIM #: 614286) • “Leukemia, acute myelogenous” (OMIM #: 601626) • “Non-Hodgkin lymphoma, somatic” (OMIM #: 605027) Synonyms: • Trisomy 5 • 5 Test Details: • Methodology: FISH • Performed: Everyday •...
Test Name & Code: • Test Name: Non-Hodgkin Lymphoma Panel • Test Code: 3076 Related Diseases & Genes: • Non-Hodgkin lymphoma, somatic (OMIM #: 605027) Synonyms: • “Lymphoma, non-Hodgkin, somatic” • “Lymphoma, non-Hodgkin” Test Details: • Methodology: FISH • Performed: Everyday • Reported: 1 week Specimen Details: • Specimen Collection: Peripheral blood; Bone marrow aspiration...
Test Name & Code: • Test Name: MM Panel • Test Code: 3073 Related Diseases & Genes: • MYELOMA, MULTIPLE (OMIM #: 254500) Synonyms: • Multiple Myeloma Panel Test Details: • Methodology: FISH • Performed: Everyday • Reported: 1 week Specimen Details: • Specimen Collection: Peripheral blood; Bone marrow aspiration material; Bone marrow biopsy material...
Test Name & Code: • Test Name: MDS Panel • Test Code: 3070 Related Diseases & Genes: • MYELODYSPLASTIC SYNDROME; MDS (OMIM #: 614286) Synonyms: • Myelodysplastic Syndrome Panel Test Details: • Methodology: FISH • Performed: Everyday • Reported: 1 week Specimen Details: • Specimen Collection: Peripheral blood; Bone marrow aspiration material; Bone marrow biopsy...
Test Name & Code: • Test Name: Translocation (8;14)(q24; q32) (FISH) • Test Code: 3069 Related Diseases & Genes: • LEUKEMIA, ACUTE LYMPHOBLASTIC; ALL (OMIM #: 613065) || Gene: MYC (OMIM #: 190080) • Non-Hodgkin lymphoma, somatic (OMIM #: 605027) || Gene: IGH (OMIM #: Location:14q32.33) Synonyms: • t(8;14)(q24;q32) • IGH/MYC Fusion Test Details: •...
Test Name & Code: • Test Name: ALL Panel • Test Code: 3068 Related Diseases & Genes: • LEUKEMIA, ACUTE LYMPHOBLASTIC; ALL (OMIM #: 613065) Synonyms: • Acute Lymphocytic Leukemia Panel Test Details: • Methodology: RT-PCR; FISH • Performed: Everyday • Reported: 1 week Specimen Details: • Specimen Collection: Peripheral blood; Bone marrow aspiration material;...
Test Name & Code: • Test Name: AML Panel • Test Code: 3067 Related Diseases & Genes: • LEUKEMIA, ACUTE MYELOID (OMIM #: 601626) Synonyms: • Acute Myeloid Leukemia Test Details: • Methodology: FISH • Performed: Everyday • Reported: 1 week Specimen Details: • Specimen Collection: Peripheral blood; Bone marrow aspiration material; Bone marrow biopsy...
Test Name & Code: • Test Name: CLL Panel • Test Code: 3066 Related Diseases & Genes: • “LEUKEMIA, CHRONIC LYMPHOCYTIC; CLL” (OMIM #: 151400) Synonyms: • Chronic Lymphocytic Leukemia Panel Test Details: • Methodology: FISH • Performed: Everyday • Reported: 1 week Specimen Details: • Specimen Collection: Peripheral blood; Bone marrow aspiration material; Bone...
Test Name & Code: • Test Name: 9p21 (CDKN2A) Deletion • Test Code: 3065 Related Diseases & Genes: • GLIOMA SUSCEPTIBILITY 5; GLM5 (OMIM #: 613030) || Gene: CDKN2A (OMIM #: 600160) • Bladder cancer, somatic (OMIM #: 109800) • MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 (OMIM #: 155601) • MELANOMA-PANCREATIC CANCER SYNDROME (OMIM #:...
Test Name & Code: • Test Name: 20q12 Deletion • Test Code: 3064 Related Diseases & Genes: • LYMPHOMA, HODGKIN (OMIM #: 236000) • MYELODYSPLASTIC SYNDROME; MDS (OMIM #: 614286) Synonyms: • 20q Deletion • del 20q12 • del 20q Test Details: • Methodology: FISH • Performed: Everyday • Reported: 1 week Specimen Details: •...
Test Name & Code: • Test Name: 17p13.1 Deletion • Test Code: 3063 Related Diseases & Genes: • LEUKEMIA, CHRONIC LYMPHOCYTIC; CLL (OMIM #: 151400) || Gene: TP53 (OMIM #: 191170) • MYELODYSPLASTIC SYNDROME; MDS (OMIM #: 614286) • MYELOMA, MULTIPLE (OMIM #: 254500) • LYMPHOMA, HODGKIN (OMIM #: 236000) Synonyms: • p53 deletion •...
Test Name & Code: • Test Name: 13q14.3 Deletion • Test Code: 3062 Related Diseases & Genes: • “LEUKEMIA, ACUTE LYMPHOBLASTIC; ALL” (OMIM #: 613065) || Gene: RB1 (OMIM #: 614041) • “LEUKEMIA, CHRONIC LYMPHOCYTIC; CLL” (OMIM #: 151400) • “MYELOMA, MULTIPLE” (OMIM #: 254500) • “Non-Hodgkin lymphoma, somatic” (OMIM #: 605027) Synonyms: • RB...
Test Name & Code: • Test Name: 5q31 Deletion • Test Code: 3060 Related Diseases & Genes: • LEUKEMIA, ACUTE MYELOID (OMIM #: 601626) • MYELODYSPLASTIC SYNDROME; MDS (OMIM #: 614286) • LYMPHOMA, HODGKIN (OMIM #: 236000) Synonyms: • EGR1 Deletion • del 5q31 • 5q Deletion • del 5q Test Details: • Methodology: FISH...
Test Name & Code: • Test Name: 7q31 Deletion • Test Code: 3059 Related Diseases & Genes: • LEUKEMIA, ACUTE MYELOID (OMIM #: 601626) • MYELODYSPLASTIC SYNDROME; MDS (OMIM #: 614286) • LYMPHOMA, HODGKIN (OMIM #: 236000) • Non-Hodgkin lymphoma, somatic (OMIM #: 605027) Synonyms: • del 7q • 7q Deletion Test Details: • Methodology:...
Test Name & Code: • Test Name: Trisomy 17 • Test Code: 3057 Related Diseases & Genes: • “Bladder cancer, somatic” (OMIM #: 109800) Synonyms: • Trisomy 17 • 17 Test Details: • Methodology: FISH • Performed: Everyday • Reported: 1 week Specimen Details: • Specimen Collection: Peripheral blood; Bone marrow aspiration material; Bone marrow...
Test Name & Code: • Test Name: Trisomy 4 • Test Code: 3056 Related Diseases & Genes: • LEUKEMIA, ACUTE LYMPHOBLASTIC; ALL (OMIM #: 613065) Synonyms: • 4 Test Details: • Methodology: FISH • Performed: Everyday • Reported: 1 week Specimen Details: • Specimen Collection: Peripheral blood; Bone marrow aspiration material; Bone marrow biopsy material...
Test Name & Code: • Test Name: Monosomy / Trisomy 7 • Test Code: 3055 Related Diseases & Genes: • MYELODYSPLASTIC SYNDROME; MDS (OMIM #: 614286) • Leukemia, acute lymphoblastic (OMIM #: 613065) • LYMPHOMA, HODGKIN (OMIM #: 236000) Synonyms: • Monosomy 7 • Trisomy 7 • -7 • 7 Test Details: • Methodology: FISH...
Test Name & Code: • Test Name: Monosomy / Trisomy 8 • Test Code: 3054 Related Diseases & Genes: • MYELODYSPLASTIC SYNDROME; MDS (OMIM #: 614286) • Leukemia, acute lymphoblastic (OMIM #: 613065) • LYMPHOMA, HODGKIN (OMIM #: 236000) • Non-Hodgkin lymphoma, somatic (OMIM #: 605027) Synonyms: • Monosomy 8 • Trisomy 8 • -8...
Test Name & Code: • Test Name: Inversion (16)(p13;q22) / Translocation (16;16)(p13;q22) (FISH) • Test Code: 3052 Related Diseases & Genes: • LEUKEMIA, ACUTE MYELOID (OMIM #: 601626) || Gene: MYH11 (OMIM #: 160745) || Gene: CBFB (OMIM #: 121360) Synonyms: • Translocation (16;16)(p13;q22), t(16;16)(p13;q22) • inversion (16)(p13;q22) • inv (16)(p13;q22) • CBFB rearrangement Test...
Test Name & Code: • Test Name: Translocation (15;17)(q22;q21) (FISH) • Test Code: 3051 Related Diseases & Genes: • Leukemia, acute myelogenous (OMIM #: 601626) || Gene: PML (OMIM #: 102578) || Gene: RARA (OMIM #: 180240) Synonyms: • t(15;17)(q22;q21) • PML/RARA fusion Test Details: • Methodology: FISH • Performed: Everyday • Reported: 1 week...
Test Name & Code: • Test Name: Translocation (14;18)(q32;q21) (FISH) • Test Code: 3050 Related Diseases & Genes: • LEUKEMIA, CHRONIC LYMPHOCYTIC; CLL (OMIM #: 151400) || Gene: IGH (OMIM #: Location:14q32.33) • Non-Hodgkin lymphoma, somatic (OMIM #: 605027) || Gene: MALT1 (OMIM #: 604860) Synonyms: • t(14;18)(q32;q21) • IGH/BCL2 fusion Test Details: • Methodology:...
Test Name & Code: • Test Name: Translocation (12;21)(p12;q22) (FISH) • Test Code: 3049 Related Diseases & Genes: • LEUKEMIA, ACUTE LYMPHOBLASTIC; ALL (OMIM #: 613065) || Gene: ETV6 (OMIM #: 600618) || Gene: RUNX1 (OMIM #: 151385) Synonyms: • t(12;21)(p12;q22) • TEL/AML1 Fusion Test Details: • Methodology: FISH • Performed: Everyday • Reported: 1...
Test Name & Code: • Test Name: Translocation (11;14)(q13;q32) (FISH) • Test Code: 3048 Related Diseases & Genes: • LEUKEMIA, CHRONIC LYMPHOCYTIC; CLL (OMIM #: 151400) || Gene: CCND1 (OMIM #: 168461) • MYELOMA, MULTIPLE (OMIM #: 254500) || Gene: IGH (OMIM #: Location:14q32.33) • Non-Hodgkin lymphoma, somatic (OMIM #: 605027) Synonyms: • t(11;14)(q13;q32) •...
Test Name & Code: • Test Name: Translocation (8;21)(q22; q22) (FISH) • Test Code: 3047 Related Diseases & Genes: • Leukemia, acute myelogenous (OMIM #: 601626) || Gene: RUNX1 (OMIM #: 151385) || Gene: RUNX1T1 (OMIM #: 133435) Synonyms: • t(8;21)(q22;q22) • ETO/AML1 füzyonu Test Details: • Methodology: FISH • Performed: Everyday • Reported: 1...
Test Name & Code: • Test Name: Translocation (4;14)(p16;q32) (FISH) • Test Code: 3045 Related Diseases & Genes: • MYELOMA, MULTIPLE (OMIM #: 254500) || Gene: FGFR3 (OMIM #: 134934) || Gene: IGH (OMIM #: Location:14q32.33) Synonyms: • t(4;14)(p16;q32) • IGH/FGFR3 Fusion Test Details: • Methodology: FISH • Performed: Everyday • Reported: 1 week Specimen...
Test Name & Code: • Test Name: Translocation (9;22)(q34;q11.2) (PCR) • Test Code: 3044 Related Diseases & Genes: • LEUKEMIA, CHRONIC MYELOID; CML (OMIM #: 608232) || Gene: ABL1 (OMIM #: 189980) • LEUKEMIA, ACUTE LYMPHOBLASTIC; ALL (OMIM #: 613065) || Gene: BCR (OMIM #: 151410) • Leukemia, acute myelogenous (OMIM #: 601626) Synonyms: •...
Test Name & Code: • Test Name: Translocation (9;22)(q34;q11.2) (FISH) • Test Code: 3043 Related Diseases & Genes: • LEUKEMIA, CHRONIC MYELOID; CML (OMIM #: 608232) || Gene: ABL1 (OMIM #: 189980) • LEUKEMIA, ACUTE LYMPHOBLASTIC; ALL (OMIM #: 613065) || Gene: BCR (OMIM #: 151410) • Leukemia, acute myelogenous (OMIM #: 601626) Synonyms: •...
Test Name & Code: • Test Name: Translocation (4;11) (q21;q23) (MLL/AFF1 ) (PCR) • Test Code: 3039 Related Diseases & Genes: • LEUKEMIA, ACUTE LYMPHOBLASTIC; ALL (OMIM #: 613065) || Gene: MLL (OMIM #: 159555) || Gene: AFF1 (OMIM #: 159557) Synonyms: • t(4;11)(q21; q23) • MLL/AF4 Fusion Test Details: • Methodology: Nested PCR •...
Test Name & Code: • Test Name: Chromosome Analysis in Peripheral Blood (Leukemia) • Test Code: 3035 Related Diseases & Genes: -not applicable- Synonyms: • Chromosome Analysis in Leukemia • Karyotyping in leukemia • Cytogenetic evaluation in leukemia Test Details: • Methodology: Cytogenetics; 24-48 hours non-induced tissue culture • Performed: Everyday • Reported: 5-7 days...
Test Name & Code: • Test Name: Chromosome Analysis in Bone Marrow Aspiration Material • Test Code: 3033 Related Diseases & Genes: -not applicable- Synonyms: • Chromosome Analysis from Bone Marrow Aspiration Material • Karyotyping (Bone marrow aspiration material) • Cytogenetic evaluation (bone marrow aspiration material) Test Details: • Methodology: Cytogenetics; 24-48 hours non-induced tissue...
Test Name & Code: • Test Name: 11q22.3 Deletion • Test Code: 3019 Related Diseases & Genes: • LEUKEMIA, CHRONIC LYMPHOCYTIC; CLL (OMIM #: 151400) • LEUKEMIA, ACUTE LYMPHOBLASTIC; ALL (OMIM #: 613065) • Non-Hodgkin lymphoma, somatic (OMIM #: 605027) Synonyms: • ATM Deletion • del 11q22.3 • 11q22.3 rearrangement • ATM Rearrangement Test Details:...
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:...
Test Name & Code: • Test Name: Hereditary Transthyretin-Related Amyloidosis • Test Code: 2986 Related Diseases & Genes: • HEREDITARY AMYLOIDOSIS, TRANSTHYRETIN-RELATED (OMIM #: 105210) || Gene: TTR (OMIM #: 176300) Synonyms: • TRANSTHYRETIN AMYLOIDOSIS • AMYLOID POLYNEUROPATHY, FAMILIAL; FAP • CTS • CTS1 • PALB • TBPA Test Details: • Methodology: DNA Sequencing •...
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...
Test Name & Code: • Test Name: ALK (2p23) Mutations • Test Code: 2981 Related Diseases & Genes: • Anaplastic lymphoma || Gene: ALK (OMIM #: 105590) • Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in (OMIM #: 211980) Synonyms: • ALK/EML4 Fusion Gene Test Details: • Methodology: FISH • Performed: Everyday •...
Test Name & Code: • Test Name: Methylmalonic Aciduria Genetic Test (MUT Gene) • Test Code: 2931 Related Diseases & Genes: • Methylmalonic aciduria (OMIM #: 251000) || Gene: MUT (OMIM #: 609058) Synonyms: • Methylmalonyl-CoA Mutase Gene Mutations • MCM Mutations Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 2-3 weeks...
Test Name & Code: • Test Name: Isovaleric Acidemia Genetic Test (IVD Gene) • Test Code: 2930 Related Diseases & Genes: • Isovaleric acidemia (OMIM #: 243500) || Gene: IVD (OMIM #: 607036) Synonyms: • IVD Mutations • Isovaleryl-CoA Dehydrogenase Mutations Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 2-3 weeks Specimen...
Test Name & Code: • Test Name: Maple Syrup Urine Disease (BCKDHA, BCKDHB, DBT Genes) • Test Code: 2929 Related Diseases & Genes: • “Maple syrup urine disease, type Ia” (OMIM #: 248600) || Gene: BCKDHA (OMIM #: 608348) • “Maple syrup urine disease, type Ib” (OMIM #: 248600) || Gene: BCKDHB (OMIM #: 248611)...
Test Name & Code: • Test Name: Translocation (5;12) (q33;p13) (PCR) • Test Code: 2920 Related Diseases & Genes: • Leukemia, acute myeloid (OMIM #: 601626) || Gene: PDGFRB (OMIM #: 173410) || Gene: ERC1 (OMIM #: 607127) Synonyms: • t(5;12)(q33;p13) • PDGFRB/ETV6 Fusion • PDGFRB Test Details: • Methodology: Nested PCR • Performed: Everyday...
Test Name & Code: • Test Name: Fanconi-Bickel Syndrome (SLC2A2 Gene) • Test Code: 2782 Related Diseases & Genes: • Fanconi-Bickel syndrome (OMIM #: 227810) || Gene: SLC2A2 (OMIM #: 138160) Synonyms: • Glycogen Storage Disease XI • SLC2A2 Gene Mutations • Solute Carrier Family 2 (Facilitated Glucose Transporter), Member 2 Test Details: Methodology: DNA Sequencing...
Test Name & Code: • Test Name: OSTEOGENESIS IMPERFECTA (COL1A1 Gene) • Test Code: 2781 Related Diseases & Genes: • Osteogenesis imperfecta, type I (OMIM #: 166200) || Gene: COL1A1 (OMIM #: 120150) Synonyms: • Collagen Production Defect • Ehlers-Danlos Syndrome Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 2 weeks Specimen...
Test Name & Code: • Test Name: JAK2 Exon 12 Mutations • Test Code: 2780 Related Diseases & Genes: • Erythrocytosis, somatic (OMIM #: 133100) || Gene: JAK2 (OMIM #: 147796) • Leukemia, acute myelogenous (OMIM #: 601626) • Myelofibrosis, somatic (OMIM #: 254450) • Polycythemia vera (OMIM #: 263300) Synonyms: • JANUS KINASE 2...
Test Name & Code: • Test Name: Hemochromatosis • Test Code: 2775 Related Diseases & Genes: • Hemochromatosis (OMIM #: 235200) || Gene: HFE (OMIM #: 613609) Synonyms: • HFE Mutation Analysis Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 2-3 weeks Specimen Details: • Specimen Collection: Peripheral blood • Container: Tube...
Test Name & Code: • Test Name: Single Chromosome Subtelomeric (FISH) • Test Code: 2770 Related Diseases & Genes: -not applicable- Synonyms: • Detection of Subtelomeric Rearrangements • Detection of Telomeric Rearrangement • Multiprobe FISH Telomere Test Details: • Methodology: FISH • Performed: Everyday • Reported: 7-10 days Specimen Details: • Specimen Collection: Peripheral blood...
Test Name & Code: • Test Name: Sperm DNA Damage and Genetic Screening • Test Code: 2730 Related Diseases & Genes: • Male infertility Synonyms: • Sperm DNA Fragmentation Test • Sperm FISH Analysis Test Details: • Methodology: FISH; TUNNEL • Performed: Everyday • Reported: 2 weeks Specimen Details: • Specimen Collection: Semen fluid •...
Test Name & Code: • Test Name: Sperm DNA Damage • Test Code: 2729 Related Diseases & Genes: • Male infertility Synonyms: • Sperm DNA Fragmentation Test Test Details: • Methodology: TUNNEL • Performed: Everyday • Reported: 1-2 weeks Specimen Details: • Specimen Collection: Semen fluid • Container: “Fresh semen sample; OR, at least 2...
Test Name & Code: • Test Name: Cystic Fibrosis (CFTR) Whole Gene Sequence Analysis • Test Code: 2676 Related Diseases & Genes: • Cystic fibrosis (OMIM #: 219700) || Gene: CFTR (OMIM #: 602421) Synonyms: • CF Mutations • CF Genetic Analysis • Cystic Fibrosis Transmembrane Conductance Regulator Test Details: • Methodology: Strip Test •...
Test Name & Code: • Test Name: Cystic Fibrosis, Common Mutations (Exon 4,7,9,10,11) Sequence Analysis • Test Code: 2672 Related Diseases & Genes: • Cystic fibrosis (OMIM #: 219700) || Gene: CFTR (OMIM #: 602421) Synonyms: • Cystic Fibrosis Screen • CFTR Sequence Analysis • Cystic Fibrosis Transmembrane Conductance Regulator Test Details: • Methodology: DNA...
Test Name & Code: • Test Name: Cystic Fibrosis CFTR Delta F508 Mutation • Test Code: 2671 Related Diseases & Genes: • Congenital bilateral absence of vas deferens (CBAVD) (OMIM #: 277180) || Gene: CFTR (OMIM #: 602421) • Cystic fibrosis (OMIM #: 219700) • Sweat chloride elevation without CF Synonyms: • “ATP-BINDING CASSETTE, SUBFAMILY...
Test Name & Code: • Test Name: 5 Alpha Reductase Deficiency (Whole Gene Sequence Analysis) • Test Code: 2637 Related Diseases & Genes: • Pseudovaginal perineoscrotal hypospadias (OMIM #: 264600) || Gene: SRD5A2 (OMIM #: 607306) Synonyms: • 5 Alpha Reductase Deficiency • Steroid 5-alpha-reductase Test Details: • Methodology: DNA Sequencing • Performed: Everyday •...
Test Name & Code: • Test Name: Warfarin Drug Resistance • Test Code: 2601 Related Diseases & Genes: • Warfarin resistance (OMIM #: 122700) || Gene: VKORC1 (OMIM #: 608547) • Coumarin resistance (OMIM #: 122700) || Gene: CYP2C9 (OMIM #: 601130) Synonyms: • “CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9” • “VITAMIN K EPOXIDE REDUCTASE COMPLEX,...
Test Name & Code: • Test Name: Celiac Genetic Panel • Test Code: 2574 Related Diseases & Genes: • Celiac disease, susceptibility to (OMIM #: 212750) || Gene: HLA-DQA1 (OMIM #: 146880) || Gene: HLA-DQB1 (OMIM #: 604305) Synonyms: • HLA DR • DQ Typing • Celiac Disease Susceptibility Evaluation • Coeliac Disease • Celiac...
Test Name & Code: • Test Name: Wilson Disease Genetic Analysis • Test Code: 2548 Related Diseases & Genes: • Wilson disease (OMIM #: 277900) || Gene: ATP7B (OMIM #: 606882) Synonyms: • ATP7B Gene Mutations Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 2 weeks Specimen Details: • Specimen Collection: Peripheral...
Test Name & Code: • Test Name: BRAF Gene V600E Mutation • Test Code: 2464 Related Diseases & Genes: • Cardiofaciocutaneous syndrome (OMIM #: 115150) || Gene: BRAF (OMIM #: 164757) • Melanoma, malignant, somatic • Nonsmall cell lung cancer, somatic • Adenocarcinoma of lung, somatic (OMIM #: 211980) Synonyms: • V-RAF Murine Sarcoma Viral...
Test Name & Code: • Test Name: Podocin (NPHS2) DNA Sequence Analysis • Test Code: 2462 Related Diseases & Genes: • Nephrotic syndrome, type 2 (OMIM #: 600995) || Gene: NPHS2 (OMIM #: 604766) Synonyms: -none- Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 4 weeks Specimen Details: • Specimen Collection: Peripheral...
Test Name & Code: • Test Name: 14q11.2 TCR rearrangement • Test Code: 2461 Related Diseases & Genes: -not applicable- Synonyms: -none- Test Details: • Methodology: FISH • Performed: Everyday • Reported: 1 week Specimen Details: • Specimen Collection: Peripheral blood; Bone marrow aspiration material; Bone marrow biopsy material • Container: Tube with Heparin •...
Test Name & Code: • Test Name: Thiopurine Pharmacogenetics Test (TPMT Gene) • Test Code: 2457 Related Diseases & Genes: • 6-mercaptopurine sensitivity (OMIM #: 610460) || Gene: TPMT (OMIM #: 187680) Synonyms: • THIOPURINE S-METHYLTRANSFERASE • 6-mercaptopurine toxicity • 6-mercaptopurine activity • TMPT Polymorphism • TPMT*2 allele • TPMT *3A allele Test Details: •...
Test Name & Code: • Test Name: EGFR Gene Mutations • Test Code: 2452 Related Diseases & Genes: • “Adenocarcinoma of lung, response to tyrosine kinase inhibitor in” (OMIM #: 211980) || Gene: EGFR (OMIM #: 131550) • “Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in” (OMIM #: 211980) Synonyms: • V-ERB-B AVIAN...
Test Name & Code: • Test Name: NIJMEGEN SYNDROME • Test Code: 2425 Related Diseases & Genes: • Nijmegen breakage syndrome (OMIM #: 251260) || Gene: NBS1 (OMIM #: 602667) Synonyms: • “NIJMEGEN BREAKAGE SYNDROME, NBS” • 657del5 Mutation • SEEMANOVA SYNDROME II • “NONSYNDROMAL MICROCEPHALY, AUTOSOMAL RECESSIVE, WITH NORMAL INTELLIGENCE” • “IMMUNODEFICIENCY, MICROCEPHALY, AND CHROMOSOMAL INSTABILITY” • ATAXIA-TELANGIECTASIA...
Test Name & Code: • Test Name: Huntington Disease Mutation Analysis • Test Code: 2423 Related Diseases & Genes: • Huntington disease (OMIM #: 143100) || Gene: HTT (OMIM #: 613004) Synonyms: • HUNTINGTIN; HTT • HD Gene Mutation Analysis • HTT Gene Mutation Analysis • IT15 Gene Mutation Analysis • CAG Increase Test Details: •...
Test Name & Code: • Test Name: Friedreich Ataxia Mutation Analyis • Test Code: 2419 Related Diseases & Genes: • Friedreich ataxia with retained reflexes (OMIM #: 229300) || Gene: FXN (OMIM #: 606829) • Friedreich ataxia (OMIM #: 229300) Synonyms: • FRIEDREICH ATAXIA 1 • FRDA1 • FXN Gene Mutation Analysis • Frataxin Mutation • FA...
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:...
Test Name & Code: • Test Name: Sotos Syndrome (FISH) • Test Code: 2391 Related Diseases & Genes: • Sotos syndrome 1 (OMIM #: 117550) || Gene: NSD1 (OMIM #: 606681) Synonyms: • NSD1 Deletion • 5q35 Deletion • del 5q35 • CEREBRAL GIGANTISM Test Details: • Methodology: FISH • Performed: Everyday • Reported: 1 week Specimen...
Test Name & Code: • Test Name: TP53 Gene Sequence Analysis • Test Code: 2390 Related Diseases & Genes: • Adrenal cortical carcinoma (OMIM #: 202300) || Gene: TP53 (OMIM #: 191170) • Breast cancer (OMIM #: 114480) • Choroid plexus papilloma (OMIM #: 260500) • Colorectal cancer (OMIM #: 114500) Synonyms: • TUMOR PROTEIN...
Test Name & Code: • Test Name: HER2/NEU/TopoIIa • Test Code: 2386 Related Diseases & Genes: • Breast cancer, somatic || Gene: ERBB2 (OMIM #: 164870) • Nonsmall cell lung cancer, somatic Synonyms: • ERBB2 Amplification • HER2 Amplification • TOPO2A Amplification Test Details: • Methodology: FISH • Performed: Everyday • Reported: 1 week Specimen...
Test Name & Code: • Test Name: 9q34 Deletion • Test Code: 2383 Related Diseases & Genes: • LEUKEMIA, CHRONIC MYELOID; CML (OMIM #: 608232)|| Gene: ABL1 (OMIM #: 189980) Synonyms: • 9q Deletion • del 9q34 Test Details: • Methodology: FISH • Performed: Everyday • Reported: 1 week Specimen Details: • Specimen Collection: Peripheral...
Test Name & Code: • Test Name: CKIT Mutations • Test Code: 2324 Related Diseases & Genes: • “Gastrointestinal stromal tumor, familial” (OMIM #: 606764) || Gene: KIT (OMIM #: 164920) • “Leukemia, acute myeloid” (OMIM #: 601626) Synonyms: • V-KIT HARDY-ZUCKERMAN 4 FELINE SARCOMA VIRAL ONCOGENE HOMOLOG • KIT ONCOGENE • MAST CELL GROWTH...
Test Name & Code: • Test Name: Plavix Effectiveness (CYP2C19) • Test Code: 2323 Related Diseases & Genes: Gene: CYP2C19 (OMIM #: 124020) Synonyms: • CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19 Test Details: • Methodology: RT-PCR (melting point) • Performed: Everyday • Reported: 1 week Specimen Details: • Specimen Collection: Peripheral blood • Container: Tube...
© 2023 Duzen Laboratories Group – Genetic Diseases Evaluation Center – All rights reserved