DNA Sequencing – 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 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 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 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 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 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 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 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 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 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 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 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 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 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 •...

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 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 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 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 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 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 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 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 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...

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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 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 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 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 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 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 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 TestsOsteochondrodysplasia (DYM Gene)

Test Name & Code: • Test Name: Osteochondrodysplasia (DYM Gene) • Test Code: 3637 Related Diseases & Genes: • Dyggve-Melchior-Clausen Disease (OMIM #: 223800) || Gene: DYM (OMIM #: 607461) • Smith-McCort Dysplasia (OMIM #: 607326) Synonyms: -none- Test Details: • Methodology: DNA Sequencing • Reported: 3 weeks Specimen Details: • Specimen Collection: Peripheral blood...

Genetic TestsEctodermal Dysplasia, Hypohidrotic (EDAR Gene Sequence Analysis)

Test Name & Code: • Test Name: Ectodermal Dysplasia, Hypohidrotic (EDAR Gene Sequence Analysis) • Test Code: 3636 Related Diseases & Genes: • Ectodermal dysplasia (OMIM #: 224900) || Gene: EDAR (OMIM #: 604095) Synonyms: • “ECTODERMAL DYSPLASIA, HYPOHIDROTIC; HED” • “ECTODERMAL DYSPLASIA, ANHIDROTIC; EDA” • Ectodysplasin Anhidrotic Receptor Gene • Ectodysplasin A Receptor Test...

Genetic TestsKostmann Disease (HAX1 Gene)

Test Name & Code: • Test Name: Kostmann Disease (HAX1 Gene) • Test Code: 3635 Related Diseases & Genes: • Kostmann Disease (OMIM #: 610738) || Gene: HAX1 (OMIM #: 605998) Synonyms: • HCLS1-Associated Protein X1 • Neutropenia, Severe Congenital, 3, Autosomal Recessive (SCN3) • HAX1 Mutation Analysis • Infantile Agranulocytosis Test Details: • Methodology:...

Genetic TestsCongenital Neutropenia (ELANE Gene)

Test Name & Code: • Test Name: Congenital Neutropenia (ELANE Gene) • Test Code: 3634 Related Diseases & Genes: • “Neutropenia, severe congenital 1, autosomal dominant” (OMIM #: 202700) || Gene: ELANE (OMIM #: 130130) • “Neutropenia, cyclic” (OMIM #: 162800) Synonyms: • Elastase, Neutrophil-Expressed • Elastase 2 (ELA2) Test Details: • Methodology: DNA Sequencing...