Genetic Tests – Duzen Laboratories Group Genetic Diseases Evaluation Center

Genetic TestsBernard Soulier Syndrome, type C

Test Name & Code: • Test Name: Bernard Soulier Syndrome, type C • Test Code: 5753 Related Diseases & Genes: • Bernard-Soulier syndrome, type C (OMIM #: 231200) || Gene: GP9 (OMIM #: 173515) Synonyms: -none- Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 3 weeks Specimen Details: • Specimen Collection: Peripheral...

Genetic TestsBernard Soulier Syndrome, type B

Test Name & Code: • Test Name: Bernard Soulier Syndrome, type B • Test Code: 5752 Related Diseases & Genes: • Bernard-Soulier syndrome, type B (OMIM #: 231200) || Gene: GP1BB (OMIM #: 138720) Synonyms: -none- Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 3 weeks Specimen Details: • Specimen Collection: Peripheral...

Genetic TestsBernard Soulier Syndrome type A

Test Name & Code: • Test Name: Bernard Soulier Syndrome type A • Test Code: 5751 Related Diseases & Genes: • Bernard-Soulier syndrome, type A1 (recessive) (OMIM #: 231200) || Gene: GP1BA (OMIM #: 606672) • Bernard Soulier Syndrome type A2 (dominant) (OMIM #: 153670) Synonyms: -none- Test Details: • Methodology: DNA Sequencing • Performed:...

Genetic TestsCystinosis CTNS Gene Testing

Test Name & Code: • Test Name: Cystinosis CTNS Gene Testing • Test Code: 5746 Related Diseases & Genes: • “Cystinosis, atypical nephropathic” (OMIM #: 219800) || Gene: CTNS (OMIM #: 606272) • “Cystinosis, late-onset juvenile or adolescent nephropathic” (OMIM #: 219800) • “Cystinosis, nephropathic” (OMIM #: 219800) • “Cystinosis, ocular nonnephropathic” (OMIM #: 219800)...

Genetic TestsAge-Related Macular Degeneration Genetic Predisposition

Test Name & Code: • Test Name: Age-Related Macular Degeneration Genetic Predisposition • Test Code: 5742 Related Diseases & Genes: • “Macular degeneration, age-related, 4” (OMIM #: 610698) || Gene: CFH (OMIM #: 134370) • “Macular degeneration, age-related, 8” (OMIM #: 613778) || Gene: ARMS2 (OMIM #: 611313) Synonyms: • CFH; Y402H variant • ARMS2;...

Genetic TestsPIK3CA Gene Mutations

Test Name & Code: • Test Name: PIK3CA Gene Mutations • Test Code: 5741 Related Diseases & Genes: • “Breast cancer, somatic” (OMIM #: 114480) || Gene: PIK3CA (OMIM #: 171834) • “Colorectal cancer, somatic” (OMIM #: 114500) • “Gastric cancer, somatic” (OMIM #: 613659) • “Hepatocellular carcinoma, somatic” (OMIM #: 114550) • “Nonsmall cell...

Genetic TestsALPL Gene Deletion/Duplication Analysis

Test Name & Code: • Test Name: ALPL Gene Deletion/Duplication Analysis • Test Code: 5649 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 TestsCYP27A1 Gene Deletion/Duplication Analysis

Test Name & Code: • Test Name: CYP27A1 Gene Deletion/Duplication Analysis • Test Code: 5648 Related Diseases & Genes: • CEREBROTENDINOUS XANTHOMATOSIS (OMIM #: 213700) || Gene: CYP27A1 (OMIM #: 606530) Synonyms: • CEREBRAL CHOLESTERINOSIS • CYP27 • STEROL 27-HYDROXYLASE Test Details: • Methodology: MLPA • Performed: Everyday • Reported: 4 weeks Specimen Details: •...

Genetic TestsFOXG1 Syndrome

Test Name & Code: • Test Name: FOXG1 Syndrome • Test Code: 5572 Related Diseases & Genes: • “Rett syndrome, congenital variant” (OMIM #: 613454) || Gene: FOXG1 (OMIM #: 164874) Synonyms: • FORKHEAD BOX G1B • FOXG1B • FORKHEAD-LIKE 1 • FKHL1 • ONCOGENE QIN • BRAIN FACTOR 1; BF1 Test Details: • Methodology:...

Genetic TestsAlpha Thalassemia Deletion/Duplication Analysis

Test Name & Code: • Test Name: Alpha Thalassemia Deletion/Duplication Analysis • Test Code: 5571 Related Diseases & Genes: • Alpha Thalassemias (OMIM #: 604131) || Gene: HBA1 (OMIM #: 141800) Synonyms: • Thalassemia • Mediterranean Anemia Test Details: • Methodology: MLPA • Performed: Everyday • Reported: 4 weeks Specimen Details: • Specimen Collection: Peripheral...

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 TestsAR-V7 Genetic Test

Test Name & Code: • Test Name: AR-V7 Genetic Test • Test Code: 5547 Related Diseases & Genes: • “Prostate cancer, susceptibility to” (OMIM #: 176807) Synonyms: -none- Test Details: • Methodology: RT-PCR • Performed: Everyday • Reported: 2 weeks Specimen Details: • Specimen Collection: Fresh tissue; Paraffin tissue; Peripheral blood; Bone marrow aspiration material...

Genetic TestsMucopolysaccharidosis Type VI (ARSB Gene)

Test Name & Code: • Test Name: Mucopolysaccharidosis Type VI (ARSB Gene) • Test Code: 5529 Related Diseases & Genes: • Mucopolysaccharidosis Type VI (OMIM #: 253200) || Gene: ARSB (OMIM #: 611542) Synonyms: • ARYLSULFATASE B • MAROTEAUX-LAMY SYNDROME • MPS VI • ARYLSULFATASE B DEFICIENCY • ARSB DEFICIENCY • N-ACETYLGALACTOSAMINE-4-SULFATASE DEFICIENCY Test Details:...

Genetic TestsChromosome Analysis in Amniotic Fluid with Rapid FISH Result

Test Name & Code: • Test Name: Chromosome Analysis in Amniotic Fluid with Rapid FISH Result • Test Code: 5472 Related Diseases & Genes: -not applicable- Synonyms: • Chromosome Analysis in Amniotic Liquid • “Karyotyping Analysis (amniotic fluid, liquid)” • “Conventional Cytogenetics (amniotic fluid, liquid)” • “Cytogenetic Evaluation (amniotic fluid, liquid)” Test Details: • Methodology:...

Genetic TestsChromosome Analysis in Amniotic Fluid with Rapid QF-PCR Result

Test Name & Code: • Test Name: Chromosome Analysis in Amniotic Fluid with Rapid QF-PCR Result • Test Code: 5470 Related Diseases & Genes: -not applicable- Synonyms: • Chromosome Analysis in Amniotic Liquid • “Karyotyping Analysis (amniotic fluid, liquid)” • “Conventional Cytogenetics (amniotic fluid, liquid)” • “Cytogenetic Evaluation (amniotic fluid, liquid)” Test Details: • Methodology:...

Genetic TestsACTN3 Mutation Analysis

Test Name & Code: • Test Name: ACTN3 Mutation Analysis • Test Code: 5210 Related Diseases & Genes: • Alpha-actinin-3 deficiency (OMIM #: Sprinting performance) || Gene: ACTN3 (OMIM #: 102574) Synonyms: • “ACTININ, ALPHA-3” • Alpha Actinin R577X Polymorphism Analysis Test Details: • Methodology: PCR-RFLP • Performed: Everyday • Reported: 7-10 days Specimen Details:...

Genetic TestsMitomycin C Test

Test Name & Code: • Test Name: Mitomycin C Test • Test Code: 5160 Related Diseases & Genes: -not applicable- Synonyms: -none- Test Details: • Methodology: Cytogenetics; 72 hours tissue culture-induced with mitomycin c • Performed: Everyday • Reported: 2 weeks Specimen Details: • Specimen Collection: Peripheral blood • Container: Tube with Heparin • Specimen...

Genetic TestsLimb-Girdle 2E (SGCB)

Test Name & Code: • Test Name: Limb-Girdle 2E (SGCB) • Test Code: 4991 Related Diseases & Genes: • Limb Girdle 2E (OMIM #: 604286) || Gene: SGCB (OMIM #: 600900) Synonyms: -none- Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 3 weeks Specimen Details: • Specimen Collection: Peripheral blood • Container:...

Genetic TestsHOLT-ORAM TBX5 Sequencing

Test Name & Code: • Test Name: HOLT-ORAM TBX5 Sequencing • Test Code: 4836 Related Diseases & Genes: • Holt-Oram syndrome (OMIM #: 142900) || Gene: TBX5 (OMIM #: 601620) Synonyms: • T-BOX 5 Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 4 weeks Specimen Details: • Specimen Collection: Peripheral blood •...

Genetic TestsSELECTIN S128R Polymorphism Analysis

Test Name & Code: • Test Name: SELECTIN S128R Polymorphism Analysis • Test Code: 4835 Related Diseases & Genes: • Blood pressure regulation QTL (OMIM #: 145500) || Gene: SELE (OMIM #: 131210) Synonyms: • E-SELECTIN • ENDOTHELIAL LEUKOCYTE ADHESION MOLECULE 1 • ELAM1 • ELAM Test Details: • Methodology: RT-PCR • Performed: Everyday •...

Genetic TestsFactor V Cambridge Mutation Analysis

Test Name & Code: • Test Name: Factor V Cambridge Mutation Analysis • Test Code: 4834 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 R306T Mutation Analysis...

Genetic TestsF13 V34L Polymorphism Analysis

Test Name & Code: • Test Name: F13 V34L Polymorphism Analysis • Test Code: 4833 Related Diseases & Genes: • Factor XIIIA Deficiency (OMIM #: 613225) || Gene: F13A1 (OMIM #: 134570) Synonyms: -none- Test Details: • Methodology: RT-PCR • Performed: Everyday • Reported: 10 days Specimen Details: • Specimen Collection: Peripheral blood • Container:...

Genetic TestsCYP21A2 Deletion/Duplication Analysis

Test Name & Code: • Test Name: CYP21A2 Deletion/Duplication Analysis • Test Code: 4832 Related Diseases & Genes: • “Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency” (OMIM #: 201910) || Gene: CYP21A2 (OMIM #: 613815) • “Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency” (OMIM #: 201910) Synonyms: • “Cytochrome P450, Family 21, Subfamily A, Polypeptide...

Genetic TestsASXL1 Exon 12 Analysis

Test Name & Code: • Test Name: ASXL1 Exon 12 Analysis • Test Code: 4831 Related Diseases & Genes: • Myelodysplastic syndrome, somatic (OMIM #: 614286) || Gene: ASXL1 (OMIM #: 612990) • Bohring-Opitz syndrome (OMIM #: 605039) Synonyms: • ADDITIONAL SEX COMBS-LIKE 1 • ASXL1 • KIAA0978 Test Details: • Methodology: DNA Sequencing •...

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 TestsTay-Sachs Disease Genetic Test (HEXA Gene)

Test Name & Code: • Test Name: Tay-Sachs Disease Genetic Test (HEXA Gene) • Test Code: 4827 Related Diseases & Genes: • Tay-Sachs disease (OMIM #: 272800) || Gene: HEXA (OMIM #: 606869) • “GM2-gangliosidosis, several forms” (OMIM #: 272800) Synonyms: • Hexosaminidase A • HEXA Mutations • Hexosaminidase A Mutations Test Details: • Methodology:...

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 TestsNOONAN Syndrome

Test Name & Code: • Test Name: NOONAN Syndrome • Test Code: 4825 Related Diseases & Genes: • Noonan syndrome 1 (OMIM #: 163950) || Gene: PTPN11 (OMIM #: 176876) Synonyms: • NOONAN SYNDROME 1; NS1 • MALE TURNER SYNDROME • FEMALE PSEUDO-TURNER SYNDROME • TURNER PHENOTYPE WITH NORMAL KARYOTYPE • PTPN11 Mutations Test Details:...

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 TestsBiotinidase Deficiency (BTD Gene)

Test Name & Code: • Test Name: Biotinidase Deficiency (BTD Gene) • Test Code: 4823 Related Diseases & Genes: • Biotinidase deficiency (OMIM #: 253260) || Gene: BTD (OMIM #: 609019) Synonyms: • Biotinidase • Multiple Carboxylase Deficiency • BTD Gene Mutations Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 1 week...

Genetic TestsAR Deletion/Duplication Analysis

Test Name & Code: • Test Name: AR Deletion/Duplication Analysis • Test Code: 4822 Related Diseases & Genes: • Androgen insensitivity (OMIM #: 300068) || Gene: AR (OMIM #: 313700) • “Androgen insensitivity, partial, with or without breast cancer” (OMIM #: 312300) • “Hypospadias 1, X-linked” (OMIM #: 300633) • Spinal and bulbar muscular atrophy...

Genetic TestsGalactosemia Genetic Analysis (GALT Gene)

Test Name & Code: • Test Name: Galactosemia Genetic Analysis (GALT Gene) • Test Code: 4821 Related Diseases & Genes: • Galactosemia (OMIM #: 230400) || Gene: GALT (OMIM #: 606999) Synonyms: • Galactose-1-Phosphate Uridylyltransferase Deficiency • Galactose-1-Phosphate Uridylyltransferase Gene Mutation Analysis • GALT Mutation Analysis Test Details: • Methodology: DNA Sequencing • Performed: Everyday...

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 TestsPRRT2 Gene Sequencing

Test Name & Code: • Test Name: PRRT2 Gene Sequencing • Test Code: 4819 Related Diseases & Genes: • “Convulsions, familial infantile, with paroxysmal choreoathetosis” (OMIM #: 602066) || Gene: PRRT2 (OMIM #: 614386) • Episodic kinesigenic dyskinesia 1 (OMIM #: 128200) • “Seizures, benign familial infantile, 2” (OMIM #: 605751) Synonyms: • PROLINE-RICH TRANSMEMBRANE...

Genetic TestsSDHB Gene Sequencing

Test Name & Code: • Test Name: SDHB Gene Sequencing • Test Code: 4818 Related Diseases & Genes: • Cowden syndrome 2 (OMIM #: 612359) || Gene: SDHB (OMIM #: 185470) • Gastrointestinal stromal tumor (OMIM #: 606764) • Paraganglioma and gastric stromal sarcoma (OMIM #: 606864) • Paragangliomas 4 (OMIM #: 115310) • Pheochromocytoma...

Genetic TestsNF2 Gene Sequencing

Test Name & Code: • Test Name: NF2 Gene Sequencing • Test Code: 4817 Related Diseases & Genes: • “Meningioma, NF2-related, somatic” (OMIM #: 607174) || Gene: NF2 (OMIM #: 607379) • “Neurofibromatosis, type 2” (OMIM #: 101000) • Schwannomatosis (OMIM #: 162091) Synonyms: • MERLIN • SCHWANNOMIN • SCH • NEUROFIBROMIN 2 Test Details:...

Genetic TestsAngelman Syndrome

Test Name & Code: • Test Name: Angelman Syndrome • Test Code: 4812 Related Diseases & Genes: • Angelman syndrome (OMIM #: 105830) || Gene: UBE3A (OMIM #: 601623) Synonyms: • UBIQUITIN-PROTEIN LIGASE E3A • 15q11-q13 Deletion (FISH) • Del 15q11-q13 (FISH) • UBE3A/D15S10 (FISH) Test Details: • Methodology: FISH • Performed: Everyday • Reported:...

Genetic TestsPrader-Willi Syndrome (FISH)

Test Name & Code: • Test Name: Prader-Willi Syndrome (FISH) • Test Code: 4811 Related Diseases & Genes: • Prader-Willi syndrome (OMIM #: 176270) || Gene: Loc 15q11-q13 Synonyms: • PWS (FISH) • 15q11-q13 Deletion (FISH) • SNRPN Deletion (FISH) • Del 15q11-q13 (FISH) Test Details: • Methodology: FISH • Performed: Everyday • Reported: 1...

Genetic TestsImatinib Resistance Sequence Analysis

Test Name & Code: • Test Name: Imatinib Resistance Sequence Analysis • Test Code: 4810 Related Diseases & Genes: • “Leukemia, Philadelphia chromosome-positive, resistant to imatinib” || Gene: ABL1 (OMIM #: 189980) Synonyms: • ABL Gene P Loop Mutations • Gleevec Resistance • ABELSON MURINE LEUKEMIA VIRAL ONCOGENE HOMOLOG 1 • TRANSFORMATION GENE: ONCOGENE ABL...

Genetic TestsFragile X Syndrome (Cytogenetics)

Test Name & Code: • Test Name: Fragile X Syndrome (Cytogenetics) • Test Code: 4804 Related Diseases & Genes: • Fragile X syndrome (OMIM #: 300624) • Fragile X tremor/ataxia syndrome (OMIM #: 300623) Synonyms: • X Chromosome Fragility Test Details: • Methodology: 72 hours induced tissue culture in folate-free medium • Performed: Everyday •...

Genetic TestsFragile X Syndrome (PCR)

Test Name & Code: • Test Name: Fragile X Syndrome (PCR) • Test Code: 4803 Related Diseases & Genes: • Fragile X syndrome (OMIM #: 300624) || Gene: FMR1 (OMIM #: 309550) • Fragile X tremor/ataxia syndrome (OMIM #: 300623) • Premature ovarian failure 1 (OMIM #: 311360) Synonyms: • FRAGILE X MENTAL RETARDATION PROTEIN;...

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 TestsGALT Deletion/Duplication Analysis

Test Name & Code: • Test Name: GALT Deletion/Duplication Analysis • Test Code: 4780 Related Diseases & Genes: • Galactosemia (OMIM #: 230400) || Gene: GALT (OMIM #: 606999) Synonyms: • Galactose-1-Phosphate Uridylyltransferase Deficiency • Galactose-1-Phosphate Uridylyltransferase Gene Mutation Analysis Test Details: • Methodology: MLPA • Performed: Everyday • Reported: 4 weeks Specimen Details: •...

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 TestsOxidative Stress Levels in Semen (ROS Test)

Test Name & Code: • Test Name: Oxidative Stress Levels in Semen (ROS Test) • Test Code: 4699 Related Diseases & Genes: • Male infertility Synonyms: -none- Test Details: • Methodology: Flow cytometry • Performed: Everyday • Reported: 2 weeks Specimen Details: • Specimen Collection: Semen fluid • Container: “Fresh semen sample; OR, at least...

Genetic TestsSperm Apoptosis Detection (ANNEXIN V)

Test Name & Code: • Test Name: Sperm Apoptosis Detection (ANNEXIN V) • Test Code: 4698 Related Diseases & Genes: • Male infertility Synonyms: -none- Test Details: • Methodology: Flow cytometry • Performed: Everyday • Reported: 2 weeks Specimen Details: • Specimen Collection: Semen fluid • Container: “Fresh semen sample; OR, at least 2 prepared...

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 TestsBRCA2 Deletion/Duplication Analysis

Test Name & Code: • Test Name: BRCA2 Deletion/Duplication Analysis • Test Code: 4688 Related Diseases & Genes: • “Breast-ovarian cancer, familial, 1” (OMIM #: 604370) || Gene: BRCA2 (OMIM #: 600185) • “Breast-ovarian cancer, familial, 2” (OMIM #: 612555) Synonyms: • Breast Cancer Susceptibility Test • Familial Breast Cancer Test Details: • Methodology: MLPA...

Genetic TestsBRCA1 Deletion/Duplication Analysis

Test Name & Code: • Test Name: BRCA1 Deletion/Duplication Analysis • Test Code: 4687 Related Diseases & Genes: • “Breast-ovarian cancer, familial, 1” (OMIM #: 604370) || Gene: BRCA1 (OMIM #: 113705) • “Breast-ovarian cancer, familial, 2” (OMIM #: 612555) Synonyms: • Breast Cancer Susceptibility Test • Familial Breast Cancer Test Details: • Methodology: MLPA...

Genetic TestsPseudoxanthoma Elasticum Gene Test

Test Name & Code: • Test Name: Pseudoxanthoma Elasticum Gene Test • Test Code: 4684 Related Diseases & Genes: • Pseudoxanthoma elasticum (OMIM #: 264800) || Gene: ABCC6 (OMIM #: 603234) • “Pseudoxanthoma elasticum, forme fruste” (OMIM #: 177850) • “Arterial calcification, generalized, of infancy, 2” (OMIM #: 614473) Synonyms: • “ATP-BINDING CASSETTE, SUBFAMILY C,...

Genetic TestsKENNEDY DISEASE Genetic Test

Test Name & Code: • Test Name: KENNEDY DISEASE Genetic Test • Test Code: 4682 Related Diseases & Genes: • “SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1” (OMIM #: 313200) || Gene: AR (OMIM #: 313700) Synonyms: • ANDROGEN RECEPTOR • KENNEDY DISEASE; KD • KENNEDY SPINAL AND BULBAR MUSCULAR ATROPHY • SPINAL AND...

Genetic TestsROS1 Fusion mutations

Test Name & Code: • Test Name: ROS1 Fusion mutations • Test Code: 4681 Related Diseases & Genes: • “Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in” (OMIM #: 211980) || Gene: ROS1 (OMIM #: 165020) Synonyms: • V-ROS AVIAN UR2 SARCOMA VIRUS ONCOGENE HOMOLOG 1 • ONCOGENE ROS • ROS • MCF3...

Genetic TestsPOLE Mutations

Test Name & Code: • Test Name: POLE Mutations • Test Code: 4670 Related Diseases & Genes: • “Colorectal cancer, susceptibility to, 12” (OMIM #: 615083) || Gene: POLE (OMIM #: 174762) Synonyms: -none- Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 2 weeks Specimen Details: • Specimen Collection: Tumour Tissue •...

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 TestsXIST Gene Deletion

Test Name & Code: • Test Name: XIST Gene Deletion • Test Code: 4666 Related Diseases & Genes: • “X-inactivation, familial skewed” (OMIM #: 300087) || Gene: XIST (OMIM #: 314670) Synonyms: • “X INACTIVATION CENTER, INCLUDED; XIC, INCLUDED” Test Details: • Methodology: FISH • Performed: Everyday • Reported: 7-10 days Specimen Details: • Specimen...

Genetic TestsFOXO1 Fusion Mutations

Test Name & Code: • Test Name: FOXO1 Fusion Mutations • Test Code: 4665 Related Diseases & Genes: • “Rhabdomyosarcoma, alveolar” (OMIM #: 268220) || Gene: FOXO1 (OMIM #: 136533) Synonyms: • FORKHEAD IN RHABDOMYOSARCOMA; FKHR • “FORKHEAD, DROSOPHILA, HOMOLOG OF, IN RHABDOMYOSARCOMA” • “FKHR/PAX7 FUSION GENE, INCLUDED” Test Details: • Methodology: FISH • Performed:...

Genetic TestsANGELMAN Methylation Analysis

Test Name & Code: • Test Name: ANGELMAN Methylation Analysis • Test Code: 4664 Related Diseases & Genes: • Angelman syndrome (OMIM #: 105830) || Gene: UBE3A (OMIM #: 601623) Synonyms: • UBIQUITIN-PROTEIN LIGASE E3A • 15q11-q13 • UBE3A/D15S10 Test Details: • Methodology: MLPA • Performed: Everyday • Reported: 4 weeks Specimen Details: • Specimen...

Genetic TestsPRADER-WILLI Methylation Analysis

Test Name & Code: • Test Name: PRADER-WILLI Methylation Analysis • Test Code: 4663 Related Diseases & Genes: • Prader-Willi syndrome (OMIM #: 176270) || Gene: SNRPN (OMIM #: 182279) Synonyms: • PWS • 15q11-q13 • SNRPN Test Details: • Methodology: MLPA • Performed: Everyday • Reported: 4 weeks Specimen Details: • Specimen Collection: Peripheral...

Genetic TestsPAH Deletion/Duplication Analysis

Test Name & Code: • Test Name: PAH Deletion/Duplication Analysis • Test Code: 4662 Related Diseases & Genes: • Phenylketonuria (OMIM #: 261600) || Gene: PAH (OMIM #: 612349) Synonyms: • PKU Genetic Analysis • Phenylalanine Hydroxylase Gene Deficiency • PAH Mutations Test Details: • Methodology: MLPA • Performed: Everyday • Reported: 4 weeks Specimen...

Genetic TestsSOD1 Sequencing

Test Name & Code: • Test Name: SOD1 Sequencing • Test Code: 4661 Related Diseases & Genes: • Amyotrophic lateral sclerosis 1 (OMIM #: 105400) || Gene: SOD1 (OMIM #: 147450) Synonyms: • “SUPEROXIDE DISMUTASE, CYTOSOLIC” • “SUPEROXIDE DISMUTASE, SOLUBLE” • “SOD, SOLUBLE” • “SUPEROXIDE DISMUTASE, COPPER-ZINC” • INDOPHENOL OXIDASE A; IPOA Test Details: •...

Genetic TestsROS1 Amplifications

Test Name & Code: • Test Name: ROS1 Amplifications • Test Code: 4645 Related Diseases & Genes: • “Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in” (OMIM #: 211980) || Gene: ROS1 (OMIM #: 165020) Synonyms: • V-ROS AVIAN UR2 SARCOMA VIRUS ONCOGENE HOMOLOG 1 • ONCOGENE ROS • ROS • MCF3 Test...

Genetic TestsMET Amplifications

Test Name & Code: • Test Name: MET Amplifications • Test Code: 4644 Related Diseases & Genes: • “Hepatocellular carcinoma, childhood type” (OMIM #: 114550) || Gene: MET (OMIM #: 164860) • “Renal cell carcinoma, papillary, familial and somatic” (OMIM #: 605074) Synonyms: • MET PROTOONCOGENE • HEPATOCYTE GROWTH FACTOR RECEPTOR (HGFR) Test Details: •...

Genetic TestsTrisomy 6

Test Name & Code: • Test Name: Trisomy 6 • Test Code: 4643 Related Diseases & Genes: • Leukemia, acute myelogenous (OMIM #: 601626) • MYELODYSPLASTIC SYNDROME; MDS (OMIM #: 614286) Synonyms: • Trisomy 6 • 6 Test Details: • Methodology: FISH • Performed: Everyday • Reported: 1 week Specimen Details: • Specimen Collection: Peripheral...

Genetic TestsPTEN Deletion

Test Name & Code: • Test Name: PTEN Deletion • Test Code: 4642 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 HOMOLOG...

Genetic TestsRREB1 (6q25) Amplifications

Test Name & Code: • Test Name: RREB1 (6q25) Amplifications • Test Code: 4641 Related Diseases & Genes: • “Bladder cancer, somatic” (OMIM #: 109800) || Gene: RREB1 (OMIM #: 602209) • “Prostate cancer, somatic” (OMIM #: 176807) Synonyms: • RAS-RESPONSIVE ELEMENT BINDING PROTEIN 1 • RREB-1 Test Details: • Methodology: FISH • Performed: Everyday...

Genetic TestsFGFR1 Amplifications

Test Name & Code: • Test Name: FGFR1 Amplifications • Test Code: 4640 Related Diseases & Genes: • “Breast cancer, somatic” || Gene: FGFR1 (OMIM #: 136350) • “Nonsmall cell lung cancer, somatic” • “Prostate cancer, somatic” (OMIM #: 176807) Synonyms: • Fibroblast Growth Factor Receptor 1 Test Details: • Methodology: FISH • Performed: Everyday...

Genetic TestsTranslocation (11;19)(q23;p13.1) (MLL/ENL) FISH

Test Name & Code: • Test Name: Translocation (11;19)(q23;p13.1) (MLL/ENL) FISH • Test Code: 4639 Related Diseases & Genes: • LEUKEMIA, ACUTE LYMPHOBLASTIC; ALL (OMIM #: 613065) || Gene: MLL (OMIM #: 159555) || Gene: MLLT1 (OMIM #: 159556) Synonyms: • MLL/ENL Rearrangements / Fusion Test Details: • Methodology: FISH • Performed: Everyday • Reported:...

Genetic TestsTranslocation (9;11)(p22;q23) (AF9/MLL) FISH

Test Name & Code: • Test Name: Translocation (9;11)(p22;q23) (AF9/MLL) FISH • Test Code: 4638 Related Diseases & Genes: • Leukemia, acute myelogenous (OMIM #: 601626) || Gene: MLLT3 (OMIM #: 159558) || Gene: MLL (OMIM #: 159555) Synonyms: • AF9/MLL Rearrangement / Fusion Test Details: • Methodology: FISH • Performed: Everyday • Reported: 1...

Genetic TestsTranslocation (11;18)(q21;q21) (API2/MALT1) FISH

Test Name & Code: • Test Name: Translocation (11;18)(q21;q21) (API2/MALT1) FISH • Test Code: 4637 Related Diseases & Genes: • “LEUKEMIA, CHRONIC LYMPHOCYTIC; CLL” (OMIM #: 151400) || Gene: BIRC3 (OMIM #: 601721) • “Non-Hodgkin lymphoma, somatic” (OMIM #: 605027) || Gene: MALT1 (OMIM #: 604860) Synonyms: • API2/MALT1 Rearrangement / Fusion Test Details: •...

Genetic TestsBCL2 (18q21) Rearrangement

Test Name & Code: • Test Name: BCL2 (18q21) Rearrangement • Test Code: 4636 Related Diseases & Genes: • “Non-Hodgkin lymphoma, somatic” (OMIM #: 605027) || Gene: BCL2 (OMIM #: 151430) • “LEUKEMIA, CHRONIC LYMPHOCYTIC; CLL” (OMIM #: 151400) Synonyms: -none- Test Details: • Methodology: FISH • Performed: Everyday • Reported: 1 week Specimen Details:...

Genetic TestsCCND1 (11Q13) Rearrangement

Test Name & Code: • Test Name: CCND1 (11Q13) Rearrangement • Test Code: 4635 Related Diseases & Genes: • B cell lymphoma || Gene: CCND1 (OMIM #: 168461) Synonyms: • B-cell leukemia/lymphoma 1 • Cyclin D1 • B-Cell Leukemia 1 Test Details: • Methodology: FISH • Performed: Everyday • Reported: 1 week Specimen Details: •...

Genetic TestsMYC (8Q24) Rearrangement

Test Name & Code: • Test Name: MYC (8Q24) Rearrangement • Test Code: 4634 Related Diseases & Genes: • Burkitt Lymphoma (OMIM #: 113970) || Gene: MYC (OMIM #: 190080) Synonyms: • MYC Rearrangement (FISH) • B-cell leukemia • B-cell lymphoma 1 Test Details: • Methodology: FISH • Performed: Everyday • Reported: 1 week Specimen...

Genetic TestsSpinocerebellar Ataxia (SCA) Type 17

Test Name & Code: • Test Name: Spinocerebellar Ataxia (SCA) Type 17 • Test Code: 4633 Related Diseases & Genes: • Spinocerebellar ataxia 17 (OMIM #: 607136) || Gene: TBP (OMIM #: 600075) Synonyms: • Spinocerebellar Atrophy 17 Test Details: • Methodology: DNA Sequencing • Reported: 3 weeks Specimen Details: • Specimen Collection: Peripheral blood...

Genetic TestsSpinocerebellar Ataxia (SCA) Type 12

Test Name & Code: • Test Name: Spinocerebellar Ataxia (SCA) Type 12 • Test Code: 4632 Related Diseases & Genes: • Spinocerebellar ataxia 12 (OMIM #: 604326) || Gene: PPP2R2B (OMIM #: 604325) Synonyms: • Spinocerebellar Atrophy 12 Test Details: • Methodology: DNA Sequencing • Reported: 3 weeks Specimen Details: • Specimen Collection: Peripheral blood...

Genetic TestsSpinocerebellar Ataxia (SCA) Type 10

Test Name & Code: • Test Name: Spinocerebellar Ataxia (SCA) Type 10 • Test Code: 4631 Related Diseases & Genes: • Spinocerebellar ataxia 10 (OMIM #: 603516) || Gene: ATXN10 (OMIM #: 611150) Synonyms: • Spinocerebellar Atrophy 10 Test Details: • Methodology: DNA Sequencing • Reported: 3 weeks Specimen Details: • Specimen Collection: Peripheral blood...

Genetic TestsSpinocerebellar Ataxia (SCA) Type 8

Test Name & Code: • Test Name: Spinocerebellar Ataxia (SCA) Type 8 • Test Code: 4630 Related Diseases & Genes: • Spinocerebellar ataxia 8 (OMIM #: 608768) || Gene: ATXN8 (OMIM #: 613289) Synonyms: • Spinocerebellar Atrophy 8 Test Details: • Methodology: DNA Sequencing • Reported: 3 weeks Specimen Details: • Specimen Collection: Peripheral blood...

Genetic TestsPrion Disease Genetic Analysis

Test Name & Code: • Test Name: Prion Disease Genetic Analysis • Test Code: 4629 Related Diseases & Genes: • Creutzfeldt-Jakob disease (OMIM #: 123400) || Gene: PRNP (OMIM #: 176640) • Gerstmann-Straussler disease (OMIM #: 137440) • “Insomnia, fatal familial” (OMIM #: 600072) Synonyms: • Prion Protein • PRP • Prion-Related Protein • PRIP...

Genetic TestsMitochondrial DNA Deletion Analysis (KS, PEARSON, PEO)

Test Name & Code: • Test Name: Mitochondrial DNA Deletion Analysis (KS, PEARSON, PEO) • Test Code: 4628 Related Diseases & Genes: • Kearns-Sayre Syndrome (KSS) (OMIM #: 530000) • PEARSON MARROW-PANCREAS SYNDROME (OMIM #: 557000) • Progressive external ophthalmoplegia (OMIM #: 157640) Synonyms: -none- Test Details: • Methodology: MLPA • Performed: Everyday • Reported:...

Genetic TestsMERRF Syndrome (A8344G, T8356C, G8363A and G8361A) Analysis

Test Name & Code: • Test Name: MERRF Syndrome (A8344G, T8356C, G8363A and G8361A) Analysis • Test Code: 4627 Related Diseases & Genes: • Myoclonic Epilepsy Associated with Ragged-Red Fibers (MERRF) (OMIM #: 545000) || Gene: MTTK (OMIM #: 590060) Synonyms: • “MTTK Gene A8344G, T8356C, G8363A and G8361A Mutations” Test Details: • Methodology: DNA...

Genetic TestsMERRF Syndrome (A8344G)

Test Name & Code: • Test Name: MERRF Syndrome (A8344G) • Test Code: 4626 Related Diseases & Genes: • Myoclonic Epilepsy Associated with Ragged-Red Fibers (MERRF) (OMIM #: 545000)|| Gene: MTTK� (OMIM #: 590060) Synonyms: • MTTK Gene A8344G Mutation Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 3 weeks Specimen Details:...

Genetic TestsMelas Syndrome (MTTL1 Gene Sequence Analysis)

Test Name & Code: • Test Name: Melas Syndrome (MTTL1 Gene Sequence Analysis) • Test Code: 4625 Related Diseases & Genes: • MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM #: 540000) || Gene: MTTL1 (OMIM #: 590050) Synonyms: • Mitochondrial Myopathy Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 3...

Genetic TestsMelas Syndrome (A3243G, T3271C, A3252G)

Test Name & Code: • Test Name: Melas Syndrome (A3243G, T3271C, A3252G) • Test Code: 4624 Related Diseases & Genes: • “MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES” (OMIM #: 540000) || Gene: MTTL1 (OMIM #: 590050) Synonyms: • Mitochondrial Myopathy • A3243G Mutation • T3271C Mutation • A3252G Mutation Test Details: • Methodology:...

Genetic TestsParkinson Type 9, Kufor-Rakeb Syndrome

Test Name & Code: • Test Name: Parkinson Type 9, Kufor-Rakeb Syndrome • Test Code: 4623 Related Diseases & Genes: • Parkinson disease 9 (OMIM #: 606693) || Gene: ATP13A2 (OMIM #: 610513) Synonyms: • ATP13A2 Gene Sequence Analysis • ATPase Type 13A2 Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 2-3...

Genetic TestsParkinson’s Type 8, LRRK2

Test Name & Code: • Test Name: Parkinson’s Type 8, LRRK2 • Test Code: 4622 Related Diseases & Genes: • Parkinson disease 8 (OMIM #: 607060) || Gene: LRRK2 (OMIM #: 609007) Synonyms: • Dardarin • PARK8 • Leucine-Rich Repeat Kinase 2 • LRRK2 Gene Sequence Analysis • Parkinson’s Disease Type 8 Gene Sequence Analysis...

Genetic TestsParkinson Type 7, DJ1

Test Name & Code: • Test Name: Parkinson’s Type 7, DJ1 • Test Code: 4621 Related Diseases & Genes: • “Parkinson disease 7, autosomal recessive early-onset (PARK7)” (OMIM #: 606324) || Gene: DJ1 (OMIM #: 602533) Synonyms: • PARK7 Gene • Oncogene DJ1 • DJ1 Gene Sequence Analysis • Parkinson’s Disease Type 7 Gene Sequence...

Genetic TestsParkinson’s Type 6, PINK1

Test Name & Code: • Test Name: Parkinson’s Type 6, PINK1 • Test Code: 4620 Related Diseases & Genes: • “Parkinson disease 6, early onset” (OMIM #: 605909) || Gene: PINK1 (OMIM #: 608309) Synonyms: • PTEN-Induced Putative Kinase 1 (PINK1) • PINK1 Gene Sequence Analysis • Parkinson’s Disease Type 6 Gene Sequence Analysis •...