Test Panel – Duzen Laboratories Group Genetic Diseases Evaluation Center

Genetic TestsAutism Spectrum Gene Panel

Test Name & Code: • Test Name: Autism Spectrum Gene Panel • Test Code: 5549 Related Diseases & Genes: • Autism Spectrum Synonyms: -none- Test Details: • Methodology: Next Generation DNA Sequencing • Performed: Everyday • Reported: 6 weeks Specimen Details: • Specimen Collection: Peripheral blood • Container: Tube with EDTA • Specimen Volume/Amount: >...

Genetic TestsEpilepsy Gene Panel

Test Name & Code: • Test Name: Epilepsy Gene Panel • Test Code: 5548 Related Diseases & Genes: • Epilepsy Synonyms: -none- Test Details: • Methodology: Next Generation DNA Sequencing • Performed: Everyday • Reported: 6 weeks Specimen Details: • Specimen Collection: Peripheral blood • Container: Tube with EDTA • Specimen Volume/Amount: > 3 ml...

Genetic TestsFatty Acid Oxidation Disorders Gene Panel

Test Name & Code: • Test Name: Fatty Acid Oxidation Disorders Gene Panel • Test Code: 4695 Related Diseases & Genes: • “Short-chain acyl-CoA dehydrogenase (SCAD) deficiency, Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency, Trifunctional protein deficiency, Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency,Iinfantile Carnitine palmitoyl transferase deficiency type II (CPT-II), Lethal Neonatal...

Genetic TestsPeroxisomal Disorders Gene Panel

Test Name & Code: • Test Name: Peroxisomal Disorders Gene Panel • Test Code: 4694 Related Diseases & Genes: • “X-linked adrenoleukodystrophy, Zellweger; peroxisome biogenesis disorder Type 1A, 2A,2B,3A,3B,4A,4B,5A,5B,6B,7A,7B,8A,8B,9B,10A,11A,11B,12A,13A,14B, D-bifunctional enzyme deficiency; Perrault syndrome, Refsum disease, Rhizomelic chondrodysplasia punctate, type 1,2,3,5, Acatalasemia, Acyl-CoA oxidase deficiency, Adrenoleukodystrophy-like/related, Alpha-methylacyl-CoA racemase deficiency, Glutaric aciduria III, Heimler syndrome III,...

Genetic TestsGlycogen Storage Diseases Gene Panel

Test Name & Code: • Test Name: Glycogen Storage Diseases Gene Panel • Test Code: 4693 Related Diseases & Genes: • “Glycogen storage disease type III, Glycogen storage disease XII, Glycogen storage disease XIII, Lafora progressive myoclonus epilepsy, Glycogen storage disease type Ia, mitochondrial, Pompe disease-glycogen storage disease type II, Glycogen storage disease type IV-adult...

Genetic TestsLysosomal Storage Diseases Gene Panel

Test Name & Code: • Test Name: Lysosomal Storage Diseases Gene Panel • Test Code: 4692 Related Diseases & Genes: • “Lysosomal acid phosphatase deficiency (ACPHD),Aspartylglucosaminuria (AGU), Metachromatic leukodystrophy,Mucopolysaccharidosis Type VI, Multiple sulfatase deficiency, Farber lipogranulomatosis,Chitotriosidase deficiency (with Gaucher 1), Cystinosis, Galactosialidosis, Fucosidosis, Pompe disease-glycogen storage disease type II, Krabbe disease, Mucopolysaccharidosis Type IVA, Morquio...

Genetic TestsNoronal Ceroid Lipofuscinosis (NCL) Genetic Panel

Test Name & Code: • Test Name: Noronal Ceroid Lipofuscinosis (NCL) Genetic Panel • Test Code: 4691 Related Diseases & Genes: • “NCL1, 2,3,4,5,6,7,8,10,11,12,13,14, HARP syndrome, Pycnodysostosis ” (OMIM #: 256730 204500 204200 162350 256731 601780 610951 600143 610127 614706 606693 615362 611726 606157 265800) || Gene: “ATP13A2, CLN3, CLN5, CLN6, CLN8, CTSD, CTSF, CTSK,...

Genetic TestsThrombophilia – Cardiovascular Disease Genetic Susceptibility Panel

Test Name & Code: • Test Name: Thrombophilia – Cardiovascular Disease Genetic Susceptibility Panel • Test Code: 4333 Related Diseases & Genes: -not applicable- Synonyms: • Cardiovascular Disease Susceptibility Panel • CVD Susceptibility Panel • Panel with Thrombophilia 13 Test Details: • Methodology: Strip Test • Performed: Everyday • Reported: 1 week Specimen Details: •...

Genetic TestsHereditary NonPolyposis Colorectal Cancer (HNPCC)

Test Name & Code: • Test Name: Hereditary NonPolyposis Colorectal Cancer (HNPCC) • Test Code: 4323 Related Diseases & Genes: • “Colorectal cancer, hereditary nonpolyposis, type 1” (OMIM #: 120435) || Gene: MLH1 (OMIM #: 120436) • Lynch Syndrome I (OMIM #: 120435)|| Gene: MSH2 (OMIM #: 609309) || Gene: MSH6 (OMIM #: 600678) ||...

Genetic TestsHereditary Cancer Panel (26 genes)

Test Name & Code: • Test Name: Hereditary Cancer Panel (26 genes) • Test Code: 4058 Related Diseases & Genes: • “Breast-ovarian cancer, familial, 1” (OMIM #: 604370) || Gene: BRCA1 (OMIM #: 113705) • “Breast-ovarian cancer, familial, 2” (OMIM #: 612555) || Gene: BRCA2 (OMIM #: 600185) • Li-Praumeni (OMIM #: 151623) || Gene:...

Genetic TestsMODY Genetic Panel

Test Name & Code: • Test Name: MODY Genetic Panel • Test Code: 3879 Related Diseases & Genes: • MODY1 (OMIM #: 125850) || Gene: HNF4A (OMIM #: 600281) • MODY2 (OMIM #: 125851) || Gene: GCK (OMIM #: 138079) • MODY3 (OMIM #: 600496) || Gene: HNF1A (OMIM #: 142410) • MODY5 (OMIM #:...

Genetic TestsOsteoporosis Susceptibility Panel

Test Name & Code: • Test Name: Osteoporosis Susceptibility Panel • Test Code: 3721 Related Diseases & Genes: • Osteoporosis (OMIM #: 166710) Synonyms: -none- Test Details: • Methodology: PCR; Reverse Hybridization; Dot Blot • Performed: Everyday • Reported: 2-3 weeks Specimen Details: • Specimen Collection: Peripheral blood • Container: Tube with EDTA • Specimen...

Genetic TestsRheumatoid Arthritis Susceptibility Panel

Test Name & Code: • Test Name: Rheumatoid Arthritis Susceptibility Panel • Test Code: 3720 Related Diseases & Genes: • “Rheumatoid arthritis, susceptibility to” (OMIM #: 180300) Synonyms: -none- Test Details: • Methodology: PCR; Reverse Hybridization; Dot Blot • Performed: Everyday • Reported: 2-3 weeks Specimen Details: • Specimen Collection: Peripheral blood • Container: Tube...

Genetic TestsSCA Panel (Type 1,2,3,6,7)

Test Name & Code: • Test Name: SCA Panel (Type 1,2,3,6,7) • Test Code: 3619 Related Diseases & Genes: • Spinocerebellar ataxia 1 (OMIM #: 164400) || Gene: ATXN1 (OMIM #: 601556) • Spinocerebellar ataxia 2 (OMIM #: 183090) || Gene: ATXN2 (OMIM #: 601517) • Spinocerebellar ataxia 6 (OMIM #: 183086) || Gene: ATXN3...

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 TestsNonSmall Cell Lung Cancer Genetic Panel

Test Name & Code: • Test Name: NonSmall Cell Lung Cancer Genetic Panel • Test Code: 3383 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) || Gene:...

Genetic TestsPediatric ALL Panel

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...

Genetic TestsPediatric MDS Panel

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...

Genetic TestsPediatric AML Panel

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...

Genetic TestsNon-Hodgkin Lymphoma Panel

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...

Genetic TestsMM Panel

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...

Genetic TestsMDS Panel

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...

Genetic TestsALL Panel

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;...

Genetic TestsAML Panel

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...

Genetic TestsCLL Panel

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...

Genetic TestsCeliac Genetic Panel

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...