admin – Page 2 – Duzen Laboratories Group Genetic Diseases Evaluation Center

Genetic TestsParkinson’s Type 1, SNCA

Test Name & Code: • Test Name: Parkinson’s Type 1, SNCA • Test Code: 4619 Related Diseases & Genes: • Parkinson’s disease 1 (OMIM #: 168601) || Gene: SNCA (OMIM #: 163890) • Parkinson’s disease 4 (OMIM #: 605543) Synonyms: • Alpha-Synuclein Gene • Parkinson’s Disease Type 4 • SNCA Gene Sequence Analysis • Parkinson’s...

Genetic TestsParkinson Juvenil, PARK2

Test Name & Code: • Test Name: Parkinson Juvenil, PARK2 • Test Code: 4618 Related Diseases & Genes: • “Parkinson’s disease, juvenile, type 2” (OMIM #: 600116) || Gene: PRKN (OMIM #: 602544) Synonyms: • PRKN • PARKIN • “PARKINSON DISEASE, JUVENILE, AUTOSOMAL RECESSIVE; PDJ” • “PARKINSONISM, EARLY-ONSET, WITH DIURNAL FLUCTUATION; EPDF” Test Details: •...

Genetic TestsLafora Disease (NHLRC1 Gene Sequence Analysis)

Test Name & Code: • Test Name: Lafora Disease (NHLRC1 Gene Sequence Analysis) • Test Code: 4617 Related Diseases & Genes: • Epilepsy, progressive myoclonic 2B (Lafora) (OMIM #: 254780) || Gene: NHLRC1 (OMIM #: 608072) Synonyms: • MYOCLONIC EPILEPSY OF LAFORA • LAFORA BODY DISEASE; LBD • Epilepsy, progressive myoclonic 2B • NHLRC1 Test...

Genetic TestsLafora Disease (EPM2A Gene Sequence Analysis)

Test Name & Code: • Test Name: Lafora Disease (EPM2A Gene Sequence Analysis) • Test Code: 4616 Related Diseases & Genes: • “Epilepsy, progressive myoclonic 2A (Lafora)” (OMIM #: 254780) || Gene: EPM2A (OMIM #: 607566) Synonyms: • MYOCLONIC EPILEPSY OF LAFORA • LAFORA BODY DISEASE; LBD • EPILEPSY, PROGRESSIVE MYOCLONIC 2A; EPM2A • EPM2...

Genetic TestsHypokalemic Periodic Paralysis Genetic Analysis (CACNA1S 4 Mutations & SCN4A 5 Mutation)

Test Name & Code: • Test Name: Hypokalemic Periodic Paralysis Genetic Analysis (CACNA1S 4 Mutations & SCN4A 5 Mutation) • Test Code: 4615 Related Diseases & Genes: • Hypokalemic periodic paralysis (OMIM #: 170400) || Gene: CACNA1S (OMIM #: 114208) Synonyms: • HOKPP • CACNA1S Mutations • SCN4A Test Details: • Methodology: DNA Sequencing •...

Genetic TestsAlzheimer’s Disease, PSEN2 Genetic Analysis, Alzheimer Type 4

Test Name & Code: • Test Name: Alzheimer’s Disease, PSEN2 Genetic Analysis, Alzheimer Type 4 • Test Code: 4614 Related Diseases & Genes: • Alzheimer disease-4 (OMIM #: 606889) || Gene: PSEN2 (OMIM #: 600759) • Cardiomyopathy, dilated, 1V (OMIM #: 613697) Synonyms: • PRESENILIN 2 • PS2 • STM2 Test Details: • Methodology: DNA...

Genetic TestsAlzheimer’s Disease, PSEN1 Genetic Analysis, Alzheimer Type 3

Test Name & Code: • Test Name: Alzheimer’s Disease, PSEN1 Genetic Analysis, Alzheimer Type 3 • Test Code: 4613 Related Diseases & Genes: • “Acne inversa, familial, 3” (OMIM #: 613737) || Gene: PSEN1 (OMIM #: 104311) • “Alzheimer’s disease, type 3” (OMIM #: 607822) • “Alzheimer’s disease, type 3, with spastic paraparesis and...

Genetic TestsAlzheimer’s Disease, APP Gene Genetic Analysis, Alzheimer Type 1

Test Name & Code: • Test Name: Alzheimer’s Disease, APP Gene Genetic Analysis, Alzheimer Type 1 • Test Code: 4612 Related Diseases & Genes: • “Alzheimer disease 1, familial” (OMIM #: 104300) || Gene: APP (OMIM #: 104760) • “Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants” (OMIM #: 605714) Synonyms: • AMYLOID BETA...

Genetic TestsAlzheimer’s Disease, APP Gene Exon 16 & 17 Genetic Analysis, Alzheimer Type 1

Test Name & Code: • Test Name: Alzheimer’s Disease, APP Gene Exon 16 & 17 Genetic Analysis, Alzheimer Type 1 • Test Code: 4611 Related Diseases & Genes: • “Alzheimer disease 1, familial” (OMIM #: 104300) || Gene: APP (OMIM #: 104760) • “Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants” (OMIM #: 605714)...

Genetic TestsPROP1 Deletion/Duplication Analysis

Test Name & Code: • Test Name: PROP1 Deletion/Duplication Analysis • Test Code: 4600 Related Diseases & Genes: • “Pituitary hormone deficiency, combined, 2” (OMIM #: 262600) || Gene: PROP1 (OMIM #: 601538) Synonyms: -none- Test Details: • Methodology: MLPA • Performed: Everyday • Reported: 4 weeks Specimen Details: • Specimen Collection: Peripheral blood •...

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 TestsALK Gene Mutations

Test Name & Code: • Test Name: ALK Gene Mutations • Test Code: 4481 Related Diseases & Genes: • Anaplastic lymphoma (OMIM #: ) || Gene: ALK (OMIM #: 105590) • “Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in” (OMIM #: 211980) Synonyms: • ALK/EML4 Fusion Gene Test Details: • Methodology: RT-PCR •...

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 Tests5 Alpha Reductase Deletion/Duplication Analysis

Test Name & Code: • Test Name: 5 Alpha Reductase Deletion/Duplication Analysis • Test Code: 4389 Related Diseases & Genes: • Pseudovaginal perineoscrotal hypospadias (OMIM #: 264600) || Gene: SRD5A2 (OMIM #: 607306) Synonyms: • 5 Alpha Reductase Deficiency • Steroid 5-alpha-reductase 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 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 TestsBrugada Syndrome

Test Name & Code: • Test Name: Brugada Syndrome • Test Code: 4322 Related Diseases & Genes: • Brugada Syndrome (BRGDA) (OMIM #: 601144) || Gene: SCN5A (OMIM #: 600163) Synonyms: • SCN5A Mutations • “RIGHT BUNDLE BRANCH BLOCK, ST SEGMENT ELEVATION, AND SUDDEN DEATH SYNDROME” • SUDDEN UNEXPLAINED NOCTURNAL DEATH SYNDROME; SUNDS Test Details:...

Genetic TestsMYCN (2p24) Amplifications

Test Name & Code: • Test Name: MYCN (2p24) Amplifications • Test Code: 4321 Related Diseases & Genes: • NEUROBLASTOMA, SUSCEPTIBILITY TO (OMIM #: 256700) || Gene: MYCN (OMIM #: 164840) Synonyms: • NMYC Oncogene • Neuroblastoma Myc Oncogene Test Details: • Methodology: FISH • Performed: Everyday • Reported: 1 week Specimen Details: • Specimen...

Genetic TestsNF1 Genetic Test

Test Name & Code: • Test Name: NF1 Genetic Test • Test Code: 4260 Related Diseases & Genes: • “NEUROFIBROMATOSIS, TYPE I” (OMIM #: 162200) || Gene: NF1 (OMIM #: 613113) Synonyms: • NF1 • “NEUROFIBROMATOSIS, PERIPHERAL TYPE” • VON RECKLINGHAUSEN DISEASE Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 8 weeks...

Genetic TestsTWIST1 Deletion/Duplication Analysis

Test Name & Code: • Test Name: TWIST1 Deletion/Duplication Analysis • Test Code: 4248 Related Diseases & Genes: • “Craniosynostosis, type 1” (OMIM #: 123100) || Gene: TWIST1 (OMIM #: 601622) • Robinow-Sorauf syndrome (OMIM #: 180750) • Saethre-Chotzen syndrome (OMIM #: 101400) • Saethre-Chotzen syndrome with eyelid anomalies (OMIM #: 101400) Synonyms: • TRANSCRIPTION...

Genetic Tests1p/19q Deletion

Test Name & Code: • Test Name: 1p/19q Deletion • Test Code: 4190 Related Diseases & Genes: • Oligodendroglioma • “NEUROBLASTOMA, SUSCEPTIBILITY TO” (OMIM #: 256700) • “BASAL CELL CARCINOMA, NONSYNDROMIC, INCLUDED” (OMIM #: 605462) Synonyms: • 1p36 deletion • 19q13 deletion Test Details: • Methodology: FISH • Performed: Everyday • Reported: 2 weeks Specimen...

Genetic TestsKRAS Mutations

Test Name & Code: • Test Name: KRAS Mutations • Test Code: 4189 Related Diseases & Genes: • “Bladder cancer, somatic” (OMIM #: 109800) || Gene: KRAS (OMIM #: 190070) • “Breast cancer, somatic” • Cardiofaciocutaneous syndrome (OMIM #: 115150) • “Gastric cancer, somatic” (OMIM #: 137215) Synonyms: • V-KI-RAS2 KIRSTEN RAT SARCOMA VIRAL ONCOGENE...

Genetic TestsKCNQ1 Sequencing

Test Name & Code: • Test Name: KCNQ1 Sequencing • Test Code: 4178 Related Diseases & Genes: • Long QT Syndrome 1 (OMIM #: 192500) || Gene: KCNQ1 (OMIM #: 607542) • Short QT Syndrome 2 (OMIM #: 609621) • Jervell and Lange-Nielsen Syndrome (OMIM #: 220400) • Familial Atrial Fibrillation (OMIM #: 607554) Synonyms:...

Genetic TestsKCNH2 Sequencing

Test Name & Code: • Test Name: KCNH2 Sequencing • Test Code: 4177 Related Diseases & Genes: • Long QT Syndrome 2 (OMIM #: 613688) || Gene: KCNH2 (OMIM #: 152427) • Short QT Syndrome 1 (OMIM #: 609620) Synonyms: -none- Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 3 weeks Specimen...

Genetic TestsKCNE1 Sequencing

Test Name & Code: • Test Name: KCNE1 Sequencing • Test Code: 4176 Related Diseases & Genes: • Long QT Syndrome 5 (OMIM #: 613695) || Gene: KCNE1 (OMIM #: 176261) • Jervell and Lange-Nielsen Syndrome (OMIM #: 612347) Synonyms: -none- Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 3 weeks Specimen...

Genetic TestsPEUTZ-JEGHERS Syndrome (STK11)

Test Name & Code: • Test Name: PEUTZ-JEGHERS Syndrome (STK11) • Test Code: 4100 Related Diseases & Genes: • “PEUTZ-JEGHERS SYNDROME, PJS” (OMIM #: 175200) || Gene: STK11 (OMIM #: 602216) Synonyms: -none- Test Details: • Methodology: DNA Sequencing Specimen Details: Testing Area(s): • Dysmorphology

Genetic TestsCoffin-Lowry Syndrome (RSK2)

Test Name & Code: • Test Name: Coffin-Lowry Syndrome (RSK2) • Test Code: 4099 Related Diseases & Genes: • Coffin-Lowry Syndrome (OMIM #: 303600) || Gene: RPS6KA3 (OMIM #: 300075) Synonyms: -none- Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 3 weeks Specimen Details: • Specimen Collection: Peripheral blood • Container: Tube...

Genetic TestsHypophosphatasia ALPL Gene Sequencing

Test Name & Code: • Test Name: Hypophosphatasia ALPL Gene Sequencing • Test Code: 4067 Related Diseases & Genes: • “Hypophosphatasia, adult” (OMIM #: 146300) || Gene: ALPL (OMIM #: 171760) • “Hypophosphatasia, childhood” (OMIM #: 241510) • “Hypophosphatasia, infantile” (OMIM #: 241500) • Odontohypophosphatasia (OMIM #: 146300) Synonyms: • “ALKALINE PHOSPHATASE, LIVER/BONE/KIDNEY TYPE” •...

Genetic TestsWolman LIPA Gene Sequencing

Test Name & Code: • Test Name: Wolman LIPA Gene Sequencing • Test Code: 4066 Related Diseases & Genes: • Cholesteryl ester storage disease (OMIM #: 278000) || Gene: LIPA (OMIM #: 613497) • Wolman disease (OMIM #: 278000) Synonyms: • LYSOSOMAL ACID LIPASE • LAL • CHOLESTEROL ESTER HYDROLASE Test Details: • Methodology: DNA...

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 TestsSotos NSD1 Gene Sequencing

Test Name & Code: • Test Name: Sotos NSD1 Gene Sequencing • Test Code: 4057 Related Diseases & Genes: • Sotos syndrome 1 (OMIM #: 117550) || Gene: NSD1 (OMIM #: 606681) Synonyms: • NSD1 Deletion • 5q35 Deletion • del 5q35 • CEREBRAL GIGANTISM Test Details: • Methodology: DNA Sequencing • Performed: Everyday •...

Genetic TestsHUNTER IDS Gene Sequencing

Test Name & Code: • Test Name: HUNTER IDS Gene Sequencing • Test Code: 4056 Related Diseases & Genes: • Mucopolysaccharidosis II (OMIM #: 309900) || Gene: IDS (OMIM #: 300823) Synonyms: • HUNTER SYNDROME • MPS II • IDURONATE 2-SULFATASE DEFICIENCY • IDS DEFICIENCY • SULFOIDURONATE SULFATASE DEFICIENCY • SIDS DEFICIENCY Test Details: •...

Genetic TestsPTEN Deletion/Duplication Analysis

Test Name & Code: • Test Name: PTEN Deletion/Duplication Analysis • Test Code: 4055 Related Diseases & Genes: • Bannayan-Riley-Ruvalcaba syndrome (OMIM #: 153480) || Gene: PTEN (OMIM #: 601728) • Cowden syndrome 1 (OMIM #: 158350) • “Endometrial carcinoma, somatic” (OMIM #: 608089) • Lhermitte-Duclos syndrome (OMIM #: 158350) Synonyms: • PHOSPHATASE AND TENSIN...

Genetic TestsGAUCHER GBA Gene Sequencing

Test Name & Code: • Test Name: GAUCHER GBA Gene Sequencing • Test Code: 4054 Related Diseases & Genes: • “Gaucher disease, type I” (OMIM #: 230800) || Gene: GBA (OMIM #: 606463) • “Gaucher disease, type II” (OMIM #: 230900) • “Gaucher disease, type III” (OMIM #: 231000) • “Gaucher disease, type IIIC” (OMIM...

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 TestsSOX9 Mutations

Test Name & Code: • Test Name: SOX9 Mutations • Test Code: 4030 Related Diseases & Genes: • Acampomelic campomelic dysplasia (OMIM #: 114290) || Gene: SOX9 (OMIM #: 608160) • Campomelic dysplasia (OMIM #: 114290) • Campomelic dysplasia with autosomal sex reversal (OMIM #: 114290) Synonyms: • SRY-RELATED HMG-BOX GENE 9 • SRY-BOX 9...

Genetic TestsCYP27A1 Sequencing

Test Name & Code: • Test Name: CYP27A1 Sequencing • Test Code: 4026 Related Diseases & Genes: • CEREBROTENDINOUS XANTHOMATOSIS (OMIM #: 213700) || Gene: CYP27A1 (OMIM #: 606530) Synonyms: • CEREBRAL CHOLESTERINOSIS • CYP27 • STEROL 27-HYDROXYLASE Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 4 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...

Genetic TestsAVPR2 Sequencing

Test Name & Code: • Test Name: AVPR2 Sequencing • Test Code: 4016 Related Diseases & Genes: • “Diabetes insipidus, nephrogenic” (OMIM #: 34800) || Gene: AVPR2 (OMIM #: 300538) • Nephrogenic syndrome of inappropriate antidiuresis (OMIM #: 300539) Synonyms: • ARGININE VASOPRESSIN RECEPTOR 2 • ANTIDIURETIC HORMONE RECEPTOR; ADHR • VASOPRESSIN V2 RECEPTOR; V2R...

Genetic TestsMEN1 Sequencing

Test Name & Code: • Test Name: MEN1 Sequencing • Test Code: 4015 Related Diseases & Genes: • “MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1” (OMIM #: 131100) || Gene: MEN1 (OMIM #: 613733) • “Adrenal adenoma, somatic” • “Angiofibroma, somatic” • Carcinoid tumor of lung • “Parathyroid adenoma, somatic” Synonyms: • MENIN • “ENDOCRINE ADENOMATOSIS,...

Genetic TestsEGFR Amplifications

Test Name & Code: • Test Name: EGFR Amplifications • Test Code: 4014 Related Diseases & Genes: • “Adenocarcinoma of the 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...

Genetic TestsHereditary Spastic Paraplegia

Test Name & Code: • Test Name: Hereditary Spastic Paraplegia • Test Code: 4011 Related Diseases & Genes: • “Spastic paraplegia 5A, autosomal recessive” (OMIM #: 270800) || Gene: CYP7B1 (OMIM #: 603711) Synonyms: -none- Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 4 weeks Specimen Details: • Specimen Collection: Peripheral blood...

Genetic TestsBRAF Amplifications

Test Name & Code: • Test Name: BRAF Amplifications • Test Code: 4009 Related Diseases & Genes: • “Melanoma, malignant, somatic” || Gene: BRAF (OMIM #: 164757) • “Nonsmall cell lung cancer, somatic” • “Adenocarcinoma of lung, somatic” (OMIM #: 211980) Synonyms: -none- Test Details: • Methodology: FISH • Performed: Everyday • Reported: 1 week...

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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 TestsLimb-Girdle 2D (SGCA Gene Sequence Analysis)

Test Name & Code: • Test Name: Limb-Girdle 2D (SGCA Gene Sequence Analysis) • Test Code: 4007 Related Diseases & Genes: • “Muscular dystrophy, limb-girdle, type 2D” (OMIM #: 608099) || Gene: SGCA (OMIM #: 600119) • “Adhalinopathy, primary” (OMIM #: ) Synonyms: • LGMD2D • ADHALIN; ADL • DYSTROGLYCAN 2; DAG2 • “DYSTROPHIN-ASSOCIATED GLYCOPROTEIN,...

Genetic TestsFabry Syndrome (GLA Gene Sequence Analysis)

Test Name & Code: • Test Name: Fabry Syndrome (GLA Gene Sequence Analysis) • Test Code: 4006 Related Diseases & Genes: • Fabry Disease (OMIM #: 301500) || Gene: GLA (OMIM #: 300644) Synonyms: • Alpha-Galactosidase A Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 2-3 weeks Specimen Details: • Specimen Collection:...

Genetic TestsIDH2 exon 4 Analysis

Test Name & Code: • Test Name: IDH2 exon 4 Analysis • Test Code: 3970 Related Diseases & Genes: • “Glioma, susceptibility to, somatic” (OMIM #: 137800) || Gene: IDH2 (OMIM #: 147650) • “Leukemia, acute myeloid” (OMIM #: 601626) • MYELODYSPLASTIC SYNDROME; MDS (OMIM #: 614286) Synonyms: • ISOCITRATE DEHYDROGENASE 2 • “SOCITRATE DEHYDROGENASE,...

Genetic TestsIDH1 exon 4 Analysis

Test Name & Code: • Test Name: IDH1 exon 4 Analysis • Test Code: 3969 Related Diseases & Genes: • “Glioma, susceptibility to, somatic” (OMIM #: 137800) || Gene: IDH1 (OMIM #: 147700) • “Leukemia, acute myeloid” (OMIM #: 601626) • MYELODYSPLASTIC SYNDROME; MDS (OMIM #: 614286) Synonyms: • ISOCITRATE DEHYDROGENASE 1 Test Details: •...

Genetic TestsGATA1 exon2 Analysis

Test Name & Code: • Test Name: GATA1 exon2 Analysis • Test Code: 3966 Related Diseases & Genes: • “Leukemia, acute myeloid” (OMIM #: 601626) || Gene: GATA1 (OMIM #: 305371) • “Leukemia, megakaryoblastic, with or without Down syndrome, somatic” (OMIM #: 190685) • “TRANSIENT MYELOPROLIFERATIVE DISORDER OF DOWN SYNDROME, INCLUDED” Synonyms: -none- Test Details:...

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 TestsB-Cell Clonality Test

Test Name & Code: • Test Name: B-Cell Clonality Test • Test Code: 3921 Related Diseases & Genes: • “LEUKEMIA, CHRONIC LYMPHOCYTIC; CLL” (OMIM #: 151400) • “LEUKEMIA, ACUTE LYMPHOBLASTIC; ALL” (OMIM #: 613065) • “Non-Hodgkin lymphoma, somatic” (OMIM #: 605027) • “LYMPHOMA, HODGKIN” (OMIM #: 236000) Synonyms: -none- Test Details: • Methodology: PCR; Fragment...

Genetic TestsT-Cell Clonality Test

Test Name & Code: • Test Name: T-Cell Clonality Test • Test Code: 3920 Related Diseases & Genes: • “LEUKEMIA, CHRONIC LYMPHOCYTIC; CLL” (OMIM #: 151400) • “LEUKEMIA, ACUTE LYMPHOBLASTIC; ALL” (OMIM #: 613065) • “Non-Hodgkin lymphoma, somatic” (OMIM #: 605027) • “LYMPHOMA, HODGKIN” (OMIM #: 236000) Synonyms: -none- Test Details: • Methodology: PCR; Fragment...

Genetic TestsSpinocerebellar Ataxia (SCA) Type 7

Test Name & Code: • Test Name: Spinocerebellar Ataxia (SCA) Type 7 • Test Code: 3917 Related Diseases & Genes: • Spinocerebellar ataxia 7 (OMIM #: 164500) || Gene: ATXN7 (OMIM #: 607640) Synonyms: • Spinocerebellar Atrophy 7 Test Details: • Methodology: DNA Sequencing • Reported: 3 weeks Specimen Details: • Specimen Collection: Peripheral blood...

Genetic TestsSpinocerebellar Ataxia (SCA) Type 6

Test Name & Code: • Test Name: Spinocerebellar Ataxia (SCA) Type 6 • Test Code: 3916 Related Diseases & Genes: • Spinocerebellar ataxia 6 (OMIM #: 183086) || Gene: CACNA1A (OMIM #: 601011) Synonyms: • Spinocerebellar Atrophy 6 Test Details: • Methodology: DNA Sequencing • Reported: 3 weeks Specimen Details: • Specimen Collection: Peripheral blood...

Genetic TestsSpinocerebellar Ataxia (SCA) Type 3

Test Name & Code: • Test Name: Spinocerebellar Ataxia (SCA) Type 3 • Test Code: 3915 Related Diseases & Genes: • Machado-Joseph Disease MJD) (OMIM #: 109150) || Gene: ATXN3 (OMIM #: 607047) Synonyms: • Spinocerebellar Atrophy 3 Test Details: • Methodology: DNA Sequencing • Reported: 3 weeks Specimen Details: • Specimen Collection: Peripheral blood...

Genetic TestsSpinocerebellar Ataxia (SCA) Type 1

Test Name & Code: • Test Name: Spinocerebellar Ataxia (SCA) Type 1 • Test Code: 3914 Related Diseases & Genes: • Spinocerebellar ataxia 1 (OMIM #: 164400) || Gene: ATXN1 (OMIM #: 601556) Synonyms: • Spinocerebellar Atrophy 1 • Autosomal Dominant Test Details: • Methodology: DNA Sequencing • Reported: 3 weeks Specimen Details: • Specimen...

Genetic TestsSpinocerebellar Ataxia (SCA) Type 2

Test Name & Code: • Test Name: Spinocerebellar Ataxia (SCA) Type 2 • Test Code: 3913 Related Diseases & Genes: • Spinocerebellar ataxia 2 (OMIM #: 183090) || Gene: ATXN2 (OMIM #: 601517) Synonyms: • Spinocerebellar Atrophy 2 Test Details: • Methodology: DNA Sequencing • Reported: 3 weeks Specimen Details: • Specimen Collection: Peripheral blood...

Genetic TestsFIP1L1/PDGFRA Fusion, del 4q12 (RT-PCR)

Test Name & Code: • Test Name: FIP1L1/PDGFRA Fusion, del 4q12 (RT-PCR) • Test Code: 3912 Related Diseases & Genes: • “HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC; HES” (OMIM #: 607685) || Gene: FIP1L1 (OMIM #: 607686) || Gene: PDGFRA (OMIM #: 173490) Synonyms: • PDGFRA/FIP1L1 FUSION • 4q Rearrangement • PDGFRA Test Details: • Methodology: RT-PCR •...

Genetic TestsEWS-FLI1 t(11;22) (PNET) RT-PCR

Test Name & Code: • Test Name: EWS-FLI1 t(11;22) (PNET) RT-PCR • Test Code: 3911 Related Diseases & Genes: • Ewing sarcoma (OMIM #: 612219) || Gene: EWSR1 (OMIM #: 133450) • Neuroepithelioma (OMIM #: 612219) Synonyms: • EWS/FLI1 Fusion Gene Test Details: • Methodology: RT-PCR • Performed: Thursdays • Reported: 1 week Specimen Details:...

Genetic TestsRARA (17q21) Rearrangements

Test Name & Code: • Test Name: RARA (17q21) Rearrangements • Test Code: 3910 Related Diseases & Genes: • “Leukemia, acute myelogenous” (OMIM #: 601626) || Gene: RARA (OMIM #: 180240) Synonyms: -none- Test Details: • Methodology: FISH • Performed: Everyday • Reported: 1 week Specimen Details: • Specimen Collection: Peripheral blood; Bone marrow aspiration...

Genetic Tests7q22 / 7q35 (MDS) Deletion

Test Name & Code: • Test Name: 7q22 / 7q35 (MDS) Deletion • Test Code: 3909 Related Diseases & Genes: • MYELODYSPLASTIC SYNDROME; MDS (OMIM #: 614286) Synonyms: -none- Test Details: • Methodology: FISH • Performed: Everyday • Reported: 1 week Specimen Details: • Specimen Collection: Peripheral blood; Bone marrow aspiration material; Bone marrow biopsy...

Genetic Tests5q33-q34 (CSF1R) Deletion

Test Name & Code: • Test Name: 5q33-q34 (CSF1R) Deletion • Test Code: 3908 Related Diseases & Genes: • “LEUKEMIA, ACUTE MYELOID” (OMIM #: 601626) • MYELODYSPLASTIC SYNDROME; MDS (OMIM #: 614286) • “LYMPHOMA, HODGKIN” (OMIM #: 236000) Synonyms: • CSF1R Deletion Test Details: • Methodology: FISH • Performed: Everyday • Reported: 1 week Specimen...

Genetic Tests13q34 Deletion

Test Name & Code: • Test Name: 13q34 Deletion • Test Code: 3907 Related Diseases & Genes: • “LEUKEMIA, ACUTE LYMPHOBLASTIC; ALL” (OMIM #: 613065) • “LEUKEMIA, CHRONIC LYMPHOCYTIC; CLL” (OMIM #: 151400) • “MYELOMA, MULTIPLE” (OMIM #: 254500) • “Non-Hodgkin lymphoma, somatic” (OMIM #: 605027) Synonyms: -none- Test Details: • Methodology: FISH • Performed:...

Genetic TestsTrisomy 11

Test Name & Code: • Test Name: Trisomy 11 • Test Code: 3906 Related Diseases & Genes: • “Leukemia, acute myelogenous” (OMIM #: 601626) • MYELODYSPLASTIC SYNDROME; MDS (OMIM #: 614286) Synonyms: -none- Test Details: • Methodology: FISH • Performed: Everyday • Reported: 1 week Specimen Details: • Specimen Collection: Peripheral blood; Bone marrow aspiration...

Genetic TestsBCL6 (3q27) Rearrangement

Test Name & Code: • Test Name: BCL6 (3q27) Rearrangement • Test Code: 3905 Related Diseases & Genes: • “Non-Hodgkin lymphoma, somatic” (OMIM #: 605027) || Gene: BCL6 (OMIM #: 109565) • “LEUKEMIA, CHRONIC LYMPHOCYTIC; CLL” (OMIM #: 151400) Synonyms: -none- Test Details: • Methodology: FISH • Performed: Everyday • Reported: 1 week Specimen Details:...

Genetic TestsCALR Exon 9 Mutations

Test Name & Code: • Test Name: CALR Exon 9 Mutations • Test Code: 3881 Related Diseases & Genes: • “Myelofibrosis, somatic” (OMIM #: 254450) || Gene: CALR (OMIM #: 109091) • “Thrombocythemia, somatic” (OMIM #: 187950) Synonyms: • Calreticulin • CRT • AUTOANTIGEN Ro; RO • COMPLEMENT COMPONENT C1q RECEPTOR; CC1QR Test Details: •...

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 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 TestsKCNQ2 Sequencing

Test Name & Code: • Test Name: KCNQ2 Sequencing • Test Code: 3877 Related Diseases & Genes: • “Epileptic encephalopathy, early infantile, 7” (OMIM #: 613720) || Gene: KCNQ2 (OMIM #: 602235) • Myokymia (OMIM #: 121200) • “Seizures, benign neonatal, 1” (OMIM #: 121200) Synonyms: • “POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY Q, MEMBER 2” Test...

Genetic TestsHLA-B5701

Test Name & Code: • Test Name: HLA-B5701 • Test Code: 3875 Related Diseases & Genes: • Abacavir sensitivity || Gene: HLA-B (OMIM #: 142830) Synonyms: -none- Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 2 weeks Specimen Details: • Specimen Collection: Peripheral blood • Container: Tube with EDTA • Specimen Volume/Amount:...

Genetic TestsSURF1 Sequencing

Test Name & Code: • Test Name: SURF1 Sequencing • Test Code: 3874 Related Diseases & Genes: • “Leigh syndrome, due to COX deficiency” (OMIM #: 256000) || Gene: SURF1 (OMIM #: 185620) Synonyms: • SURFEIT 1 Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 4 weeks Specimen Details: • Specimen Collection:...

Genetic TestsGCH1 Sequencing

Test Name & Code: • Test Name: GCH1 Sequencing • Test Code: 3872 Related Diseases & Genes: • “DYSTONIA, DOPA-RESPONSIVE; DRD” (OMIM #: 128230) || Gene: CGH1 (OMIM #: 600225) • “Hyperphenylalaninemia, BH4-deficient, B” (OMIM #: 233910) Synonyms: • GTP CYCLOHYDROLASE I • DYSTONIA 5; DYT5 • “DYSTONIA, PROGRESSIVE, WITH DIURNAL VARIATION” • DYSTONIA-PARKINSONISM WITH...

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 TestsBladder Cancer Genetic Screen (UROVYSION)

Test Name & Code: • Test Name: Bladder Cancer Genetic Screen (UROVYSION) • Test Code: 3801 Related Diseases & Genes: • “Bladder cancer, somatic” (OMIM #: 109800) Synonyms: -none- Test Details: • Methodology: FISH • Performed: Everyday • Reported: 2 weeks Specimen Details: • Specimen Collection: Urine • Container: Sterile Urine Sample Container (will be...

Genetic TestsSingle Chromosome Painting (FISH)

Test Name & Code: • Test Name: Single Chromosome Painting (FISH) • Test Code: 3800 Related Diseases & Genes: -not applicable- Synonyms: • Chromosome Specific FISH Test Details: • Methodology: FISH • Performed: Everyday • Reported: 7-10 days Specimen Details: • Specimen Collection: Peripheral blood • Container: Tube with Heparin • Specimen Volume/Amount: > 3ml...

Genetic TestsHER2 Mutations

Test Name & Code: • Test Name: HER2 Mutations • Test Code: 3799 Related Diseases & Genes: • “Breast cancer, somatic” || Gene: ERBB2 (OMIM #: 164870) • “Nonsmall cell lung cancer, somatic” Synonyms: -none- Test Details: • Methodology: RT-PCR • Performed: Everyday • Reported: 2 weeks Specimen Details: • Specimen Collection: Fresh Tissue; Paraffin...

Genetic TestsGlutaric Acidemia I

Test Name & Code: • Test Name: Glutaric Acidemia I • Test Code: 3770 Related Diseases & Genes: • Glutaric acidemia I (OMIM #: 231670) || Gene: GCDH (OMIM #: 608801) Synonyms: -none- Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 3 weeks Specimen Details: • Specimen Collection: Peripheral blood • Container:...

Genetic TestsPTEN Point Mutations

Test Name & Code: • Test Name: PTEN Point Mutations • Test Code: 3735 Related Diseases & Genes: • Bannayan-Riley-Ruvalcaba syndrome (OMIM #: 153480) || Gene: PTEN (OMIM #: 601728) • Cowden syndrome 1 (OMIM #: 158350) • Endometrial carcinoma, somatic (OMIM #: 608089) • Lhermitte-Duclos syndrome (OMIM #: 158350) Synonyms: • PHOSPHATASE AND TENSIN...

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 Tests19q Deletion

Test Name & Code: • Test Name: 19q Deletion • Test Code: 3733 Related Diseases & Genes: • Oligodendroglioma Synonyms: • 19q13 deletion Test Details: • Methodology: FISH • Performed: Everyday • Reported: 1 week Specimen Details: • Specimen Collection: Tumour Tissue • Container: “Fresh tissue in a sterile tube; or, Paraffin block” Testing Area(s):...

Genetic Tests1p Deletion

Test Name & Code: • Test Name: 1p Deletion • Test Code: 3732 Related Diseases & Genes: • Oligodendroglioma • “NEUROBLASTOMA, SUSCEPTIBILITY TO” (OMIM #: 256700) • “BASAL CELL CARCINOMA, NONSYNDROMIC, INCLUDED” (OMIM #: 605462) Synonyms: • 1p36 deletion Test Details: • Methodology: FISH • Performed: Everyday • Reported: 1 week Specimen Details: • Specimen...

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 TestsMolecular Karyotyping

Test Name & Code: • Test Name: Molecular Karyotyping • Test Code: 3698 Related Diseases & Genes: -not applicable- Synonyms: -none- Test Details: • Methodology: Array CGH • Performed: Everyday • Reported: 3 weeks Specimen Details: • Specimen Collection: Peripheral blood • Container: Tube with EDTA • Specimen Volume/Amount: > 5 ml • Storage/Transport Condition:...

Genetic TestsLimb-Girdle 2F (SGCD)

Test Name & Code: • Test Name: Limb-Girdle 2F (SGCD) • Test Code: 3649 Related Diseases & Genes: • Limb Girdle 2F (OMIM #: 601287) || Gene: SGCD (OMIM #: 601411) Synonyms: -none- Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 3 weeks Specimen Details: • Specimen Collection: Peripheral blood • Container:...

Genetic TestsInversion (3)(q21;q26.2) / Translocation (3;3)(q21;q26.2) FISH

Test Name & Code: • Test Name: Inversion (3)(q21;q26.2) / Translocation (3;3)(q21;q26.2) FISH • Test Code: 3648 Related Diseases & Genes: • LEUKEMIA, ACUTE MYELOID (OMIM #: 601626) || Gene: EVI1 (OMIM #: 165215) || Gene: RPN1 (OMIM #: 180470) Synonyms: • EVI1 / RPN1 (ribophorin 1) Test Details: • Methodology: FISH • 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 TestsCongenital Glycosylation defect Type 1A

Test Name & Code: • Test Name: Congenital Glycosylation defect Type 1A • Test Code: 3646 Related Diseases & Genes: • “CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia; CDG1A” (OMIM #: 212065) || Gene: PMM2 (OMIM #: 601785) Synonyms: • CDG Ia; CDGIa • JAEKEN SYNDROME • PHOSPHOMANNOMUTASE 2 DEFICIENCY • “CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE Ia,...

Genetic TestsTranslocation (1;19)(q23;p13) (TCF3/PBX1) FISH

Test Name & Code: • Test Name: Translocation (1;19)(q23;p13) (TCF3/PBX1) FISH • Test Code: 3644 Related Diseases & Genes: • “LEUKEMIA, ACUTE LYMPHOBLASTIC; ALL” (OMIM #: 613065) || Gene: TCF3 (OMIM #: 147141) || Gene: PBX1 (OMIM #: 176310) Synonyms: -none- Test Details: • Methodology: FISH • Performed: Everyday • Reported: 1 week Specimen Details:...

Genetic TestsTranslocation (4;11)(q21;q23) (MLL/AFF1 ) FISH

Test Name & Code: • Test Name: Translocation (4;11)(q21;q23) (MLL/AFF1 ) FISH • Test Code: 3643 Related Diseases & Genes: • LEUKEMIA, ACUTE LYMPHOBLASTIC; ALL (OMIM #: 613065) || Gene: MLL (OMIM #: 159555) || Gene: AFF1 (OMIM #: 159557) Synonyms: • MLL-AF4 Fusion Test Details: • Methodology: FISH • Performed: Everyday • Reported: 1...

Genetic TestsTranslocation (6;9)(p22;q34) (DEK/NUP214) FISH

Test Name & Code: • Test Name: Translocation (6;9)(p22;q34) (DEK/NUP214) FISH • Test Code: 3642 Related Diseases & Genes: • Leukemia, acute myeloid” (OMIM #: 601626) || Gene: DEK (OMIM #: 125264) • MYELODYSPLASTIC SYNDROME; MDS (OMIM #: 614286) || Gene: NUP214 (OMIM #: 114350) Synonyms: • DEK/CAN Fusion Test Details: • Methodology: FISH •...