DNA Sequencing (NGS) – 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 TestsCDKL5 Gene Sequencing

Test Name & Code: • Test Name: CDKL5 Gene Sequencing • Test Code: 4820 Related Diseases & Genes: • “Epileptic encephalopathy, early infantile, 2” (OMIM #: 300672)|| Gene: CDKL5 (OMIM #: 300203) Synonyms: • CYCLIN-DEPENDENT KINASE-LIKE 5 • SERINE/THREONINE PROTEIN KINASE 9 • STK9 Test Details: • Methodology: Next Generation DNA Sequencing • Performed: Everyday...

Genetic TestsCarnitine Palmitoyltransferase II Deficiency

Test Name & Code: • Test Name: Carnitine Palmitoyltransferase II Deficiency • Test Code: 4788 Related Diseases & Genes: • “CPT deficiency, hepatic, type II” (OMIM #: 600649) || Gene: CPT2 (OMIM #: 600650) • “CPT II deficiency, lethal neonatal” (OMIM #: 608836) • Myopathy due to CPT II deficiency (OMIM #: 255110) • “Encephalopathy,...

Genetic TestsGLUD1 Gene Sequencing

Test Name & Code: • Test Name: GLUD1 Gene Sequencing • Test Code: 4787 Related Diseases & Genes: • Hyperinsulinism-hyperammonemia syndrome (OMIM #: 606762) || Gene: GLUD1 (OMIM #: 138130) Synonyms: • GLUD • GDH • GLUTAMATE DEHYDROGENASE 1 Test Details: • Methodology: Next Generation DNA Sequencing • Performed: Everyday • Reported: 4 weeks Specimen...

Genetic TestsKCNJ11 Gene Sequencing

Test Name & Code: • Test Name: KCNJ11 Gene Sequencing • Test Code: 4786 Related Diseases & Genes: • “Diabetes mellitus, permanent neonatal, with neurologic features” (OMIM #: 606176) || Gene: KCNJ11 (OMIM #: 600937) • “Diabetes mellitus, transient neonatal, 3” (OMIM #: 610582) • “Diabetes, permanent neonatal” (OMIM #: 606176) • “Hyperinsulinemic hypoglycemia, familial,...

Genetic TestsMODY2 GCK Gene Sequencing

Test Name & Code: • Test Name: MODY2 GCK Gene Sequencing • Test Code: 4785 Related Diseases & Genes: • “Diabetes mellitus, noninsulin-dependent, late onset” (OMIM #: 125853) || Gene: GCK (OMIM #: 138079) • “Diabetes mellitus, permanent neonatal” (OMIM #: 606176) • “Hyperinsulinemic hypoglycemia, familial, 3” (OMIM #: 602485) • “MODY, type II” (OMIM...

Genetic TestsMODY5 HNF1B Gene Sequencing

Test Name & Code: • Test Name: MODY5 HNF1B Gene Sequencing • Test Code: 4784 Related Diseases & Genes: • “Diabetes mellitus, noninsulin-dependent” (OMIM #: 125853) || Gene: HNF1B (OMIM #: 189907) • Renal cysts and diabetes syndrome (OMIM #: 137920) • Renal cell carcinoma (OMIM #: 144700) Synonyms: • HNF1 HOMEOBOX B • TRANSCRIPTION...

Genetic TestsSOS1 Gene Sequencing

Test Name & Code: • Test Name: SOS1 Gene Sequencing • Test Code: 4783 Related Diseases & Genes: • Noonan syndrome 4 (OMIM #: 610733) || Gene: SOS1 (OMIM #: 182530) • “Fibromatosis, gingival, 1” (OMIM #: 135300) Synonyms: • “SON OF SEVENLESS, DROSOPHILA, HOMOLOG 1” • SOS1 GUANINE NUCLEOTIDE EXCHANGE FACTOR Test Details: •...

Genetic TestsDRAVET Syndrome SCN1A

Test Name & Code: • Test Name: DRAVET Syndrome SCN1A • Test Code: 4782 Related Diseases & Genes: • Dravet syndrome (OMIM #: 607208) || Gene: SCN1A (OMIM #: 182389) • “Epilepsy, generalized, with febrile seizures plus, type 2” (OMIM #: 604403) • “Febrile seizures, familial, 3A” (OMIM #: 604403) • “Migraine, familial hemiplegic, 3”...

Genetic TestsIGF1R Gene Sequencing

Test Name & Code: • Test Name: IGF1R Gene Sequencing • Test Code: 4781 Related Diseases & Genes: • “Insulin-like growth factor I, resistance to” (OMIM #: 270450) || Gene: IGF1R (OMIM #: 147370) Synonyms: -none- Test Details: • Methodology: Next Generation DNA Sequencing • Performed: Everyday • Reported: 4 weeks Specimen Details: • Specimen...

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 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 TestsPolycystic Kidney Disease (PKD) Type II (Adult)

Test Name & Code: • Test Name: Polycystic Kidney Disease (PKD) Type II (Adult) • Test Code: 4668 Related Diseases & Genes: • Polycystic kidney disease 2 (OMIM #: 613095)|| Gene: PKD2 (OMIM #: 173910) Synonyms: • APKD2 Test Details: • Methodology: Next Generation DNA Sequencing • Performed: Everyday • Reported: 3 weeks Specimen Details:...

Genetic TestsPolycystic Kidney Disease (PKD) Type I (Adult)

Test Name & Code: • Test Name: Polycystic Kidney Disease (PKD) Type I (Adult) • Test Code: 4667 Related Diseases & Genes: • “Polycystic kidney disease, adult type I” (OMIM #: 173900) || Gene: PKD1 (OMIM #: 601313) Synonyms: • APKD1 Test Details: • Methodology: Next Generation DNA Sequencing • Performed: Everyday • Reported: 3...

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 TestsALPORT Syndrome

Test Name & Code: • Test Name: ALPORT Syndrome • Test Code: 3954 Related Diseases & Genes: • “ALPORT SYNDROME, AUTOSOMAL DOMINANT” (OMIM #: 104200) || Gene: COL4A3 (OMIM #: 120070) • “ALPORT SYNDROME, AUTOSOMAL RECESSIVE” (OMIM #: 203780) || Gene: COL4A4 (OMIM #: 120131) • “ALPORT SYNDROME, X-LINKED; ATS” (OMIM #: 301050) || Gene:...

Genetic TestsSTARGARDT Disease

Test Name & Code: • Test Name: STARGARDT Disease • Test Code: 3953 Related Diseases & Genes: • STGD1 (OMIM #: 248200) || Gene: ABCA4 (OMIM #: 601691) • STGD3 (OMIM #: 600110) || Gene: CNGB3 (OMIM #: 605080) || Gene: ELOVL4 (OMIM #: 605512) Synonyms: • “MACULAR DEGENERATION, JUVENILE” • “FUNDUS FLAVIMACULATUS, INCLUDED; FFM,...

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 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 TestsDMD Point Mutations

Test Name & Code: • Test Name: DMD Point Mutations • Test Code: 3734 Related Diseases & Genes: • Duchenne muscular dystrophy (OMIM #: 310200) || Gene: DMD (OMIM #: 300377) • MUSCULAR DYSTROPHY, BECKER TYPE (OMIM #: 300376) Synonyms: • Duchenne muscular dystrophy (DMD) • Dystrophin • Deletion Test Details: • Methodology: Next Generation...

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”...