Multisystem Diseases – Duzen Laboratories Group Genetic Diseases Evaluation Center

Genetic TestsTERT Sequencing

Test Name & Code: • Test Name: TERT Sequencing • Test Code: 4830 Related Diseases & Genes: • “Dyskeratosis congenita, autosomal dominant 2” (OMIM #: 613989) || Gene: TERT (OMIM #: 187270) • “Dyskeratosis congenita, autosomal recessive 4” (OMIM #: 613989) • “Leukemia, acute myeloid” (OMIM #: 601626) • “Melanoma, cutaneous malignant, 9” (OMIM #:...

Genetic TestsTERC Sequencing

Test Name & Code: • Test Name: TERC Sequencing • Test Code: 4829 Related Diseases & Genes: • “Dyskeratosis congenita, autosomal dominant 1” (OMIM #: 127550) || Gene: TERC (OMIM #: 602322) • Aplastic anemia (OMIM #: 614743) • “Pulmonary fibrosis, idiopathic, susceptibility to” (OMIM #: 614743) Synonyms: • TELOMERASE RNA CANDIDATE 3 • TRC3...

Genetic TestsSFTPC Sequencing

Test Name & Code: • Test Name: SFTPC Sequencing • Test Code: 4826 Related Diseases & Genes: • “Surfactant metabolism dysfunction, pulmonary, 2” (OMIM #: 610913) || Gene: SFTPC (OMIM #: 178620) Synonyms: • “SURFACTANT-ASSOCIATED PROTEIN, PULMONARY, 2” • SFTP2 • PULMONARY SURFACTANT APOPROTEIN PSP-C; SPC • PSP-C • SURFACTANT PROTEOLIPID SPL-pVal • PULMONARY SURFACTANT...

Genetic TestsSFTPA2 Sequencing

Test Name & Code: • Test Name: SFTPA2 Sequencing • Test Code: 4824 Related Diseases & Genes: • “Pulmonary fibrosis, idiopathic” (OMIM #: 178500) || Gene: SFTPA2 (OMIM #: 178642) Synonyms: • PULMONARY SURFACTANT PROTEIN AII • SPAII • SPA2 • COLLECTIN 5 • COLEC5 Test Details: • Methodology: DNA Sequencing • Performed: Everyday •...

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 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 TestsNF1 Deletion/Duplication Analysis

Test Name & Code: • Test Name: NF1 Deletion/Duplication Analysis • Test Code: 4391 Related Diseases & Genes: • “NEUROFIBROMATOSIS, TYPE I” (OMIM #: 162200) || Gene: NF1 (OMIM #: 613113) Synonyms: • NF1 • NEUROFIBROMATOSIS, PERIPHERAL TYPE • VON RECKLINGHAUSEN DISEASE Test Details: • Methodology: MLPA • Performed: Everyday • Reported: 3 weeks Specimen...

Genetic TestsMODY3 HNF1A Gene Sequencing

Test Name & Code: • Test Name: MODY3 HNF1A Gene Sequencing • Test Code: 4387 Related Diseases & Genes: • MODY3 (OMIM #: 600496) || Gene: HNF1A (OMIM #: 142410) Synonyms: • Maturity-Onset Diabetes of the Young Type 3 • MASON-TYPE DIABETES Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 4 weeks...

Genetic TestsLowe Syndrome (OCRL1 Gene)

Test Name & Code: • Test Name: Lowe Syndrome (OCRL1 Gene) • Test Code: 4042 Related Diseases & Genes: • LOWE OCULOCEREBRORENAL SYNDROME (OMIM #: 309000) || Gene: OCRL (OMIM #: 300535) Synonyms: • “PHOSPHATIDYLINOSITOL 4,5-BISPHOSPHATE 5-PHOSPHATASE DEFICIENCY” Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 8 weeks Specimen Details: • Specimen...

Genetic TestsWILSON ATP7B Sequencing

Test Name & Code: • Test Name: WILSON ATP7B Sequencing • Test Code: 4017 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 blood...

< class="bt_bb_headline_tag">Genetic Tests

" subheadline="" font="" font_weight="" font_size="" color_scheme="" color="" align="" url="https://duzengenetics.com/kartagener-syndrome-primary-ciliary-dyskinesia-cild1-dnai1-gene-dna-sequence-analysis/" target="_self" html_tag="h2" size="normal" dash="" el_id="" el_class="" el_style="" supertitle_position="" ignore_fe_editor="true"]

Test Name & Code: • Test Name: Kartagener Syndrome Primary Ciliary Dyskinesia [CILD1 (DNAI1) Gene DNA Sequence Analysis] • Test Code: 4008 Related Diseases & Genes: • “Ciliary dyskinesia, primary, 1, with or without situs inversus” (OMIM #: 244400) || Gene: DNAI1 (OMIM #: 604366) Synonyms: • IMMOTILE CILIA SYNDROME; ICS • POLYNESIAN BRONCHIECTASIS Test...

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 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 TestsMC4R Sequencing

Test Name & Code: • Test Name: MC4R Sequencing • Test Code: 3878 Related Diseases & Genes: • “Obesity, autosomal dominant” (OMIM #: 601665) || Gene: MC4R (OMIM #: 155541) Synonyms: • MCR RECEPTOR • MELANOCORTIN 4 RECEPTOR; MC4R Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 2 weeks Specimen Details: •...

Genetic TestsAngioedema, hereditary, types I and II

Test Name & Code: • Test Name: Angioedema, hereditary, types I and II • Test Code: 3805 Related Diseases & Genes: • “Angioedema, hereditary, types I and II” (OMIM #: 106100) || Gene: C1NH (OMIM #: 606860) Synonyms: • “ANGIONEUROTIC EDEMA, HEREDITARY; HANE” • “C1 ESTERASE INHIBITOR, DEFICIENCY OF” • “ANGIOEDEMA, HEREDITARY, TYPE II, INCLUDED;...

Genetic TestsWISKOTT-ALDRICH Syndrome (WAS Gene)

Test Name & Code: • Test Name: WISKOTT-ALDRICH Syndrome (WAS Gene) • Test Code: 3802 Related Diseases & Genes: • WISKOTT-ALDRICH SYNDROME 1 (OMIM #: 301000) || Gene: WAS (OMIM #: 300392) Synonyms: • ALDRICH SYNDROME • ECZEMA-THROMBOCYTOPENIA-IMMUNODEFICIENCY SYNDROME • IMMUNODEFICIENCY 2; IMD2 • WAS1 Test Details: • Methodology: DNA Sequencing • Performed: Everyday •...

Genetic TestsCystic Fibrosis (CFTR) Deletion Duplication Analysis

Test Name & Code: • Test Name: Cystic Fibrosis (CFTR) Deletion Duplication Analysis • Test Code: 3647 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: MLPA • Performed: Everyday...

Genetic TestsGilbert Syndrome – UGT1A1 Gene 5 – (TA) Repeat Number

Test Name & Code: • Test Name: Gilbert Syndrome – UGT1A1 Gene 5 – (TA) Repeat Number • Test Code: 3624 Related Diseases & Genes: • Gilbert syndrome (OMIM #: 143500) || Gene: UGT1A1 (OMIM #: 191740) Synonyms: • Hereditary Hyperbilirubinemia • Gilbert Disease • UGT1A1*01 • UGT1A1*28 Test Details: • Methodology: DNA Sequencing •...

Genetic TestsMODY Type 1 (HNF4A Gene)

Test Name & Code: • Test Name: MODY Type 1 (HNF4A Gene) • Test Code: 3388 Related Diseases & Genes: • “MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1” (OMIM #: 125850) || Gene: HNF4A (OMIM #: 600281) Synonyms: • “MODY, TYPE 1” • MODY1 • MILD JUVENILE DIABETES MELLITUS Test Details: • Methodology: DNA Sequencing...

Genetic TestsPFIC3 Genetic Analysis

Test Name & Code: • Test Name: PFIC3 Genetic Analysis • Test Code: 3367 Related Diseases & Genes: • “CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3” (OMIM #: 602347) || Gene: ABCB4 (OMIM #: 171060) Synonyms: • MDR3 DEFICIENCY • “CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, WITH ELEVATED SERUM GAMMA-GLUTAMYLTRANSFERASE” Test Details: • Methodology: DNA Sequencing • Performed: Everyday...

Genetic TestsPFIC2 Genetic Analysis

Test Name & Code: • Test Name: PFIC2 Genetic Analysis • Test Code: 3354 Related Diseases & Genes: • “CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 2” (OMIM #: 601847) || Gene: ABCB11 (OMIM #: 603201) Synonyms: -none- Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 6 weeks Specimen Details: • Specimen Collection: Peripheral blood...

Genetic TestsPFIC1 Genetic Analysis

Test Name & Code: • Test Name: PFIC1 Genetic Analysis • Test Code: 3349 Related Diseases & Genes: • “CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1” (OMIM #: 211600)|| Gene: ATP8B1 (OMIM #: 602397) Synonyms: -none- Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 5 weeks Specimen Details: • Specimen Collection: Peripheral blood •...

Genetic TestsFamilial Mediterranean Fever Mutation Analysis

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:...

Genetic TestsFamilial Mediterranean Fever Gene Sequence Analysis

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...

Genetic TestsAlpha-1-Antitrypsin Genotype Determination (M, S, Z Alleles)

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...

Genetic TestsHereditary Transthyretin-Related Amyloidosis

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 •...

Genetic TestsHemochromatosis

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...

Genetic TestsCystic Fibrosis (CFTR) Whole Gene Sequence Analysis

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 •...

Genetic TestsCystic Fibrosis, Common Mutations (Exon 4,7,9,10,11) Sequence Analysis

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...

Genetic TestsWilson Disease Genetic Analysis

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...

Genetic TestsHemochromatosis (2 mutations)

Test Name & Code: • Test Name: Hemochromatosis (2 Mutations) • Test Code: 2196 Related Diseases & Genes: • Hemochromatosis (OMIM #: 235200) || Gene: HFE (OMIM #: 613609) Synonyms: • HFE Mutation Analysis Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 1 week Specimen Details: • Specimen Collection: Peripheral blood •...

Genetic TestsHLA-B51

Test Name & Code: • Test Name: HLA-B51 • Test Code: 2191 Related Diseases & Genes: • Behcet Syndrome (OMIM #: 109650) || Gene: HLA-B (OMIM #: 142830) Synonyms: • Behcet Disease, Susceptibility to Test Details: • Methodology: RT-PCR • Performed: Everyday • Reported: 7-10 days Specimen Details: • Specimen Collection: Peripheral blood • Container:...

Genetic TestsCIAS1 Gene Mutations

Test Name & Code: • Test Name: CIAS1 Gene Mutations • Test Code: 1849 Related Diseases & Genes: • CINCA syndrome (OMIM #: 607115) || Gene: NLRP3 (OMIM #: 606416) • “Cold-induced autoinflammatory syndrome, familial” (OMIM #: 120100) • Muckle-Wells syndrome (OMIM #: 191900) Synonyms: • CIAS1 Gene (CIAS1) • “Nacht Domain-, Leucine-Rich Repeat-, and...