Neurogenetics – Duzen Laboratories Group Genetic Diseases Evaluation Center

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 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 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 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 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 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 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 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 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 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 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 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 •...

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 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 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 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 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 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 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 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 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 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 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 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 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 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 TestsSGCG Gene Sequence Analysis

Test Name & Code: • Test Name: SGCG Gene Sequence Analysis • Test Code: 3633 Related Diseases & Genes: • Muscular dystrophy, limb-girdle, type 2C (OMIM #: 253700) || Gene: SGCG (OMIM #: 608896) Synonyms: • LGMD2C • Sarcoglycan Gamma • Dystrophin-Associated Glycoprotein Test Details: • Methodology: DNA Sequencing • Reported: 3 weeks Specimen Details:...

Genetic TestsLMNA Gene Sequence Analysis (Emery-Dreifuss/Limb-Girdle Muscular Dystrophy)

Test Name & Code: • Test Name: LMNA Gene Sequence Analysis (Emery-Dreifuss/Limb-Girdle Muscular Dystrophy) • Test Code: 3632 Related Diseases & Genes: • “Emery-Dreifuss muscular dystrophy 2, AD” (OMIM #: 181350) || Gene: LMNA (OMIM #: 150330) • “Emery-Dreifuss muscular dystrophy 3, AR” (OMIM #: 181350) • “Muscular dystrophy, congenital” (OMIM #: 613205) • “Muscular...

Genetic TestsDMD Carrier Test

Test Name & Code: • Test Name: DMD Carrier Test • Test Code: 3622 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: MLPA •...

Genetic TestsSCA Panel (Type 1,2,3,6,7)

Test Name & Code: • Test Name: SCA Panel (Type 1,2,3,6,7) • Test Code: 3619 Related Diseases & Genes: • Spinocerebellar ataxia 1 (OMIM #: 164400) || Gene: ATXN1 (OMIM #: 601556) • Spinocerebellar ataxia 2 (OMIM #: 183090) || Gene: ATXN2 (OMIM #: 601517) • Spinocerebellar ataxia 6 (OMIM #: 183086) || Gene: ATXN3...

Genetic TestsCLN Type 3

Test Name & Code: • Test Name: CLN Type 3 • Test Code: 3612 Related Diseases & Genes: • Ceroid lipofuscinosis, neuronal, 3 (OMIM #: 204200) || Gene: CLN3 (OMIM #: 607042) Synonyms: • CLN3 Mutation Analysis • Neuronal Ceroid Lipofuscinosis, Juvenile; JNCL • Batten Disease • Vogt-Spielmeyer Disease • Spielmeyer-Sjogren Disease Test Details: •...

Genetic TestsCLN Type 2

Test Name & Code: • Test Name: CLN Type 2 • Test Code: 3611 Related Diseases & Genes: • “Ceroid lipofuscinosis, neuronal, 2” (OMIM #: 204500) || Gene: TPP1 (OMIM #: 607998) Synonyms: • TPP1 Mutation Analysis • Jansky-Bielschowsky Disease Test Details: • Methodology: Qualitative RT-PCR • Performed: Everyday • Reported: 2-3 weeks Specimen Details:...

Genetic TestsCLN Type 1

Test Name & Code: • Test Name: CLN Type 1 • Test Code: 3610 Related Diseases & Genes: • Ceroid lipofuscinosis, neuronal, 1 (OMIM #: 256730) || Gene: PPT1 (OMIM #: 600722) Synonyms: • PPT1 Mutation Analysis Test Details: • Methodology: Qualitative RT-PCR • Performed: Everyday • Reported: 2-3 weeks Specimen Details: • Specimen Collection:...

Genetic TestsMyotonic Dystrophy

Test Name & Code: • Test Name: Myotonic Dystrophy • Test Code: 3609 Related Diseases & Genes: • Myotonic dystrophy 1 (DM1) (OMIM #: 160900) || Gene: DMPK (OMIM #: 605377) Synonyms: • DMPK Gene Analysis • DMPK Triple Repeat Analysis • Dystrophia Myotonica • Myotonia Atrophica • Dystrophia Myotonica Protein Kinase Gene Test Details:...

Genetic TestsLHON Gene Analysis

Test Name & Code: • Test Name: LHON Gene Analysis • Test Code: 3608 Related Diseases & Genes: • LEBER HEREDITARY OPTIC NEUROPATHY; LHON (OMIM #: 535000) Synonyms: -none- Test Details: • Methodology: RT-PCR • Reported: 3 weeks Specimen Details: • Specimen Collection: Peripheral blood • Container: Tube with EDTA • Specimen Volume/Amount: 5-10 ml...

Genetic TestsCadasil Disease (Exon 3, 4, 5, 6)

Test Name & Code: • Test Name: Cadasil Disease (Exon 3, 4, 5, 6) • Test Code: 3607 Related Diseases & Genes: • Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (OMIM #: 125310) || Gene: NOTCH3 (OMIM #: 600276) Synonyms: • NOTCH3 Gene DNA Sequence Analysis • DEMENTIA • HEREDITARY MULTI-INFARCT TYPE CASIL Test Details:...

Genetic TestsARX Mutation Analysis

Test Name & Code: • Test Name: ARX Mutation Analysis • Test Code: 3567 Related Diseases & Genes: • “Epileptic encephalopathy, early infantile, 1” (OMIM #: 308350) || Gene: ARX (OMIM #: 300382) • “Lissencephaly, X-linked 2, Hydranencephaly with abnormal genitalia” (OMIM #: 300215) • Proud syndrome (OMIM #: 300004) • “Mental retardation, X-linked 29...

Genetic TestsPAX6 Gene Sequence Analysis

Test Name & Code: • Test Name: PAX6 Gene Sequence Analysis • Test Code: 3497 Related Diseases & Genes: • Aniridia (OMIM #: 106210) || Gene: PAX6 (OMIM #: 607108) • Cataract with late-onset corneal dystrophy (OMIM #: 106210) • Coloboma of optic nerve (OMIM #: 120430) • Optic nerve hypoplasia (OMIM #: 165550) Synonyms:...

Genetic TestsHOXA1 Gene Sequence Analysis

Test Name & Code: • Test Name: HOXA1 Gene Sequence Analysis • Test Code: 3496 Related Diseases & Genes: • Athabaskan brainstem dysgenesis syndrome (OMIM #: 601536) || Gene: HOXA1 (OMIM #: 142955) • Bosley-Salih-Alorainy syndrome (OMIM #: 601536) Synonyms: • HOMEOBOX A1 • HOMEOBOX 1F • “Hox-1.6, MOUSE, HOMOLOG OF” • “lab, DROSOPHILA, HOMOLOG...

Genetic TestsCHN1 Gene Sequence Analysis

Test Name & Code: • Test Name: CHN1 Gene Sequence Analysis • Test Code: 3495 Related Diseases & Genes: • Duane retraction syndrome 2 (OMIM #: 604356) || Gene: Chimerin 1 (CHN1) (OMIM #: 118423) Synonyms: • N-CHIMERIN; CHN • GTPase-ACTIVATING PROTEIN • RHO GTPase-ACTIVATING PROTEIN 2 • RHOGAP2 Test Details: • Methodology: DNA Sequencing...

Genetic TestsSALL4 Gene Sequence Analysis

Test Name & Code: • Test Name: SALL4 Gene Sequence Analysis • Test Code: 3494 Related Diseases & Genes: • Duane-radial ray syndrome (OMIM #: 607323) || Gene: SALL4 (OMIM #: 607343) • IVIC syndrome (OMIM #: 147750) Synonyms: • SAL-LIKE 4 • HSAL4 Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported:...

Genetic TestsTUBB3 Gene Sequence Analysis

Test Name & Code: • Test Name: TUBB3 Gene Sequence Analysis • Test Code: 3493 Related Diseases & Genes: • “Cortical dysplasia, complex, with other brain malformations” (OMIM #: 614039) || Gene: TUBB3 (OMIM #: 602661) • “Fibrosis of extraocular muscles, congenital, 3A” (OMIM #: 600638) Synonyms: • “TUBULIN, BETA-3” • TUBB4 • “TUBULIN, BETA,...

Genetic TestsKIF2A Gene DNA Sequence Analysis

Test Name & Code: • Test Name: KIF2A Gene DNA Sequence Analysis • Test Code: 3492 Related Diseases & Genes: • Follicular B-cell lymphoma (OMIM #: )|| Gene: KIF2A (OMIM #: 602591) Synonyms: • KINESIN HEAVY CHAIN MEMBER 2A • KIF2 Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 2-3 weeks Specimen...

Genetic TestsCLN Type 6

Test Name & Code: • Test Name: CLN Type 6 • Test Code: 3486 Related Diseases & Genes: • “CEROID LIPOFUSCINOSIS, NEURONAL, 6” (OMIM #: 601780) || Gene: CLN6 (OMIM #: 606725) Synonyms: • “NEURONAL CEROID LIPOFUSCINOSIS, LATE INFANTILE” Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 2-3 weeks Specimen Details: •...

Genetic TestsMetachromatic Leukodystrophy (ARSA1 Gene)

Test Name & Code: • Test Name: Metachromatic Leukodystrophy (ARSA1 Gene) • Test Code: 3442 Related Diseases & Genes: • Metachromatic Leukodystrophy (OMIM #: 250100)|| Gene: ARSA (OMIM #: 607574) Synonyms: • MLD • ARYLSULFATASE A Gene Sequence Analysis • ARSA Gene Sequence Analysis Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported:...

Genetic TestsSmith-Lemli-Opitz Syndrome

Test Name & Code: • Test Name: Smith-Lemli-Opitz Syndrome • Test Code: 3440 Related Diseases & Genes: Gene: DHCR7 (OMIM #: 602858) Synonyms: • SLOS Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 3 weeks Specimen Details: • Specimen Collection: Peripheral blood • Container: Tube with EDTA • Specimen Volume/Amount: 5-10 ml...

Genetic TestsRETT Syndrome MECP2 Deletion Analysis

Test Name & Code: • Test Name: RETT Syndrome MECP2 Deletion Analysis • Test Code: 3313 Related Diseases & Genes: • Rett syndrome, preserved speech variant (OMIM #: 312750) || Gene: MECP2 (OMIM #: 300005) • Rett syndrome (OMIM #: 312750) Synonyms: • MECP2 Deletion Analysis • methyl-CpG-binding protein-2 Test Details: • Methodology: MLPA •...

Genetic TestsLimb-Girdle Deletion Analysis

Test Name & Code: • Test Name: Limb-Girdle Deletion Analysis • Test Code: 3299 Related Diseases & Genes: • Muscular dystrophy, limb-girdle, type 2D (OMIM #: 608099) • Adhalinopathy, primary Synonyms: • SGCA • SGCB • SGCD • SGCG • FKRP Test Details: • Methodology: MLPA • Performed: Everyday • Reported: 2-3 weeks Specimen Details:...

Genetic TestsLimb-Girdle 2D (CAPN3 Gene Sequence Analysis)

Test Name & Code: • Test Name: Limb-Girdle 2D (CAPN3 Gene Sequence Analysis) • Test Code: 3264 Related Diseases & Genes: • Limb Girdle 2A (OMIM #: 253600) || Gene: CAPN3 (OMIM #: 114240) Synonyms: -none- Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 4 weeks Specimen Details: • Specimen Collection: Peripheral...

Genetic TestsTWIST1 Mutation Analysis

Test Name & Code: • Test Name: TWIST1 Mutation Analysis • Test Code: 3230 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 TestsDYT-1 Mutation Analysis

Test Name & Code: • Test Name: DYT-1 Mutation Analysis • Test Code: 3191 Related Diseases & Genes: • “Dystonia, early-onset atypical, with myoclonic features” || Gene: TOR1A (OMIM #: 605204) • “Dystonia-1, torsion” (OMIM #: 128100) Synonyms: • TORSIN 1A • DYT1 GENE Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported:...

Genetic TestsSMA Mutation Analysis

Test Name & Code: • Test Name: SMA Mutation Analysis • Test Code: 3098 Related Diseases & Genes: • Spinal muscular atrophy-1 (OMIM #: 253300) || Gene: SMN1 (OMIM #: 600354) Synonyms: • Spinal Muscular Atrophy Mutation Analysis • SMN Gene Deletion Analysis • SMA Exon 7 Deletion • SMA Exon 8 Deletion Test Details:...

Genetic TestsDMD/BMD Deletion Analysis

Test Name & Code: • Test Name: DMD/BMD Deletion Analysis • Test Code: 3096 Related Diseases & Genes: • MUSCULAR DYSTROPHY, DUCHENNE TYPE (OMIM #: 310200) • MUSCULAR DYSTROPHY, BECKER TYPE (OMIM #: 300376) Synonyms: • Duchenne muscular dystrophy (DMD) Deletion Analysis • Becker muscular dystrophy (BMD) Deletion Analysis • Muscular Dystrophy Duchenne (DMD) DeletionAnalysis • Muscular Dystrophy Becker (BMD) DeletionAnalysis...

Genetic TestsHereditary Transthyretin-Related Amyloidosis

Test Name & Code: • Test Name: Hereditary Transthyretin-Related Amyloidosis • Test Code: 2986 Related Diseases & Genes: • HEREDITARY AMYLOIDOSIS, TRANSTHYRETIN-RELATED (OMIM #: 105210) || Gene: TTR (OMIM #: 176300) Synonyms: • TRANSTHYRETIN AMYLOIDOSIS • AMYLOID POLYNEUROPATHY, FAMILIAL; FAP • CTS • CTS1 • PALB • TBPA Test Details: • Methodology: DNA Sequencing •...

Genetic TestsHuntington Disease Mutation Analysis

Test Name & Code: • Test Name: Huntington Disease Mutation Analysis • Test Code: 2423 Related Diseases & Genes: • Huntington disease (OMIM #: 143100) || Gene: HTT (OMIM #: 613004) Synonyms: • HUNTINGTIN; HTT • HD Gene Mutation Analysis • HTT Gene Mutation Analysis • IT15 Gene Mutation Analysis • CAG Increase Test Details: •...

Genetic TestsFriedreich Ataxia Mutation Analyis

Test Name & Code: • Test Name: Friedreich Ataxia Mutation Analyis • Test Code: 2419 Related Diseases & Genes: • Friedreich ataxia with retained reflexes (OMIM #: 229300) || Gene: FXN (OMIM #: 606829) • Friedreich ataxia (OMIM #: 229300) Synonyms: • FRIEDREICH ATAXIA 1 • FRDA1 • FXN Gene Mutation Analysis • Frataxin Mutation • FA...

Genetic TestsSotos Syndrome (FISH)

Test Name & Code: • Test Name: Sotos Syndrome (FISH) • Test Code: 2391 Related Diseases & Genes: • Sotos syndrome 1 (OMIM #: 117550) || Gene: NSD1 (OMIM #: 606681) Synonyms: • NSD1 Deletion • 5q35 Deletion • del 5q35 • CEREBRAL GIGANTISM Test Details: • Methodology: FISH • Performed: Everyday • Reported: 1 week Specimen...

Genetic TestsFragile X Repeat Analysis

Test Name & Code: • Test Name: Fragile X Repeat Analysis • Test Code: 2318 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 TestsHNPP

Test Name & Code: • Test Name: HNPP • Test Code: 2164 Related Diseases & Genes: • “NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES; HNPP” (OMIM #: 162500) || Gene: PMP22 (OMIM #: 601097) Synonyms: • PMP22 Deletion • 17p11.2 Deletion Test Details: • Methodology: PCR-RFLP • Performed: Everyday • Reported: 1 week Specimen Details:...

Genetic TestsApoE Genotyping

Test Name & Code: • Test Name: ApoE Genotyping • Test Code: 1438 Related Diseases & Genes: • Alzheimer disease-2 (OMIM #: 104310) || Gene: APOE (OMIM #: 107741) • “Hyperlipoproteinemia, type III” • Lipoprotein glomerulopathy (OMIM #: 611771) • Sea-blue histiocyte disease (OMIM #: 269600) Synonyms: -none- Test Details: • Methodology: Reverse Dot Blot...