Genetic Tests – Page 3 – Duzen Laboratories Group Genetic Diseases Evaluation Center

Genetic TestsTranslocation (14;16)(q32;q23) (MAF/IGH) FISH

Test Name & Code: • Test Name: Translocation (14;16)(q32;q23) (MAF/IGH) FISH • Test Code: 3641 Related Diseases & Genes: • “MYELOMA, MULTIPLE” (OMIM #: 254500) || Gene: IGH (OMIM #: Location:14q32.33) || Gene: MAF (OMIM #: 177075) Synonyms: • t(14;16) • MAF/IGH fusion Test Details: • Methodology: FISH • Performed: Everyday • Reported: 1 week...

Genetic TestsRubinstein-Taybi Syndrome (del 16p13.3) FISH

Test Name & Code: • Test Name: Rubinstein-Taybi Syndrome (del 16p13.3) FISH • Test Code: 3638 Related Diseases & Genes: • Rubinstein-Taybi Syndrome (OMIM #: 180849) || Gene: CREBBP (OMIM #: 600140) Synonyms: • RUBINSTEIN SYNDROME • “BROAD THUMBS AND GREAT TOES, CHARACTERISTIC FACIES, AND MENTAL RETARDATION” • BROAD THUMB-HALLUX SYNDROME • CREB-BINDING PROTEIN; CREBBP...

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...

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 TestsAARSKOG (FGD1 Gene)

Test Name & Code: • Test Name: AARSKOG (FGD1 Gene) • Test Code: 3631 Related Diseases & Genes: • AARSKOG-SCOTT Syndrome (OMIM #: 305400) || Gene: FGD1 (OMIM #: 300546) Synonyms: • Faciogenital dysplasia • faciodigitogenital syndrome • AARSKOG Syndrome • FGD1 gene Test Details: • Methodology: DNA Sequencing • Reported: 3 weeks Specimen Details:...

Genetic TestsNiemann-Pick Genetic Test (NPC1, NPC2, SMPD1 genes)

Test Name & Code: • Test Name: Niemann-Pick Genetic Test (NPC1, NPC2, SMPD1 genes) • Test Code: 3630 Related Diseases & Genes: • “Niemann-Pick disease, type C1” (OMIM #: 257220)|| Gene: NPC1 (OMIM #: 607623) • “Niemann-Pick disease, type D” (OMIM #: 257220)|| Gene: NPC2 (OMIM #: 601015) • “Niemann-pick disease, type C2” (OMIM #:...

Genetic TestsGM1-Gangliosidosis (GLB1 Gene)

Test Name & Code: • Test Name: GM1-Gangliosidosis (GLB1 Gene) • Test Code: 3629 Related Diseases & Genes: • GM1-gangliosidosis (OMIM #: 230500) || Gene: GLB1 (OMIM #: 611458) Synonyms: • Morquio Disease Type B • MUCOPOLYSACCHARIDOSIS TYPE IVB Test Details: • Methodology: DNA Sequencing • Reported: 3 weeks Specimen Details: • Specimen Collection: Peripheral...

Genetic TestsBECKWITH WIEDEMANN 11p15 Hypomethylation Analysis

Test Name & Code: • Test Name: BECKWITH WIEDEMANN 11p15 Hypomethylation Analysis • Test Code: 3628 Related Diseases & Genes: • BECKWITH-WIEDEMANN SYNDROME (BWS) (OMIM #: 130650) || Gene: NSD1 (OMIM #: 606681) || Gene: H19 (OMIM #: 103280) || Gene: KCNQ1OT1 (OMIM #: 604115) || Gene: CDKN1C (OMIM #: 600856) Synonyms: • EXOMPHALOS-MACROGLOSSIA-GIGANTISM SYNDROME...

Genetic TestsSilver-Russell mat UPD7

Test Name & Code: • Test Name: Silver-Russell mat UPD7 • Test Code: 3627 Related Diseases & Genes: • Silver-Russell syndrome (OMIM #: 180860) Synonyms: • RUSSELL-SILVER SYNDROME • SILVER-RUSSELL DWARFISM Test Details: • Methodology: PCR; DNA Modification • Reported: 3 weeks Specimen Details: • Specimen Collection: Peripheral blood • Container: Tube with EDTA •...

Genetic TestsSilver-Russell 11p15 Hypomethylation

Test Name & Code: • Test Name: Silver-Russell 11p15 Hypomethylation • Test Code: 3626 Related Diseases & Genes: • Silver-Russell syndrome (OMIM #: 180860) || Gene: Location 11p15 (OMIM #: ) Synonyms: • RUSSELL-SILVER SYNDROME • SILVER-RUSSELL DWARFISM Test Details: • Methodology: MLPA; Methylation Sensitive Restriction • Performed: Everyday • Reported: 3 weeks Specimen Details:...

Genetic TestsHRAS Mutations

Test Name & Code: • Test Name: HRAS Mutations • Test Code: 3625 Related Diseases & Genes: • Congenital myopathy with excess of muscle spindles (OMIM #: 218040) || Gene: HRAS (OMIM #: 190020) • Costello syndrome (OMIM #: 218040) • Bladder cancer, somatic (OMIM #: 109800) • Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic (OMIM #: 163200)...

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

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

Genetic TestsIrinotecan Toxicity (UGT1A1)

Test Name & Code: • Test Name: Irinotecan Toxicity (UGT1A1) • Test Code: 3623 Related Diseases & Genes: • Gene: UGT1A1 (OMIM #: 191740) Synonyms: • “UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1” • UGT1A1*28 Variants • UGT1A1 6/7 Polymorphism Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 1 week Specimen Details: • Specimen...

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 TestsSHOX Deletion

Test Name & Code: • Test Name: SHOX Deletion • Test Code: 3621 Related Diseases & Genes: • Langer mesomelic dysplasia (OMIM #: 249700) || Gene: SHOX (OMIM #: 312865) • Leri-Weill dyschondrosteosis (OMIM #: 127300) • Short stature, idiopathic familial (OMIM #: 300582) Synonyms: • SHORT STATURE HOMEOBOX Test Details: • Methodology: FISH •...

Genetic TestsWilms Tumor (WT1 Gene) Sequence Analysis

Test Name & Code: • Test Name: Wilms Tumor (WT1 Gene) Sequence Analysis • Test Code: 3620 Related Diseases & Genes: • Denys-Drash syndrome (OMIM #: 194080) || Gene: WT1 (OMIM #: 607102) • Frasier syndrome (OMIM #: 136680) • Meacham syndrome (OMIM #: 608978) • Mesothelioma, somatic (OMIM #: 156240) • Wilms tumor, type...

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 TestsSTX11 (Syntaxin 11) Gene Sequence Analysis

Test Name & Code: • Test Name: STX11 (Syntaxin 11) Gene Sequence Analysis • Test Code: 3617 Related Diseases & Genes: • Hemophagocytic lymphohistiocytosis, familial, 4 (OMIM #: 603552) || Gene: STX11 (OMIM #: 605014) Synonyms: • FHL4 Test Details: • Methodology: DNA Sequencing • Reported: 3 weeks Specimen Details: • Specimen Collection: Peripheral blood...

Genetic TestsRubinstein-Taybi Syndrome (CREBBP Gene Sequence Analysis)

Test Name & Code: • Test Name: Rubinstein-Taybi Syndrome (CREBBP Gene Sequence Analysis) • Test Code: 3616 Related Diseases & Genes: • Rubinstein-Taybi Syndrome (OMIM #: 180849) || Gene: CREBBP (OMIM #: 600140) Synonyms: • RUBINSTEIN SYNDROME • BROAD THUMBS AND GREAT TOES, CHARACTERISTIC FACIES, AND MENTAL RETARDATION • BROAD THUMB-HALLUX SYNDROME • CREB-BINDING PROTEIN;...

Genetic TestsPerforin Gene Sequence Analysis

Test Name & Code: • Test Name: Perforin Gene Sequence Analysis • Test Code: 3615 Related Diseases & Genes: • “Hemophagocytic lymphohistiocytosis, familial, 2” (OMIM #: 603553) || Gene: PRF1 (OMIM #: 170280) Synonyms: • Perforin 1 • Pore-Forming Protein (PFP) • PFN1 • FHL2 Test Details: • Methodology: DNA Sequencing • Reported: 3 weeks...

Genetic TestsMUNC13-4 (UNC13) Gene Sequence Analysis

Test Name & Code: • Test Name: MUNC13-4 (UNC13) Gene Sequence Analysis • Test Code: 3614 Related Diseases & Genes: • Hemophagocytic lymphohistiocytosis, familial, 3 (OMIM #: 608898) || Gene: UNC13 (OMIM #: 608898) Synonyms: • MUNC13-4 • “UNC13, C. elegans, Homolog of” • FHL3 Test Details: • Methodology: DNA Sequencing • Reported: 3 weeks...

Genetic TestsCongenital Nephrotic Syndrome, Type 1 (NPHS1 Gene)

Test Name & Code: • Test Name: Congenital Nephrotic Syndrome, Type 1 (NPHS1 Gene) • Test Code: 3613 Related Diseases & Genes: • “Nephrotic syndrome, type 1” (OMIM #: 256300) || Gene: NPHS1 (OMIM #: 602716) Synonyms: • FINNISH CONGENITAL NEPHROSIS; CNF • “NEPHROTIC SYNDROME, CONGENITAL” Test Details: • Methodology: DNA Sequencing • Performed: Everyday...

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 TestsGenetic Arrhythmia Panel

Test Name & Code: • Test Name: Genetic Arrhythmia Panel • Test Code: 3599 Related Diseases & Genes: • “ATRIAL FIBRILLATION, FAMILIAL, 12; ATFB12” (OMIM #: 614050) || Gene: ABCC9 (OMIM #: 601439) • Long QT Syndrome 1 (OMIM #: 192500) || Gene: KCNE1 (OMIM #: 176261) • Short QT Syndrome 2 (OMIM #: 609621)...

Genetic TestsFamilial Hypertrophic Cardiomyopathy Panel

Test Name & Code: • Test Name: Familial Hypertrophic Cardiomyopathy Panel • Test Code: 3598 Related Diseases & Genes: • “CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4; CMH4” (OMIM #: 115197) || Gene: MYBPC3 (OMIM #: 600958) • “CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1; CMH1” (OMIM #: 192600) || Gene: MYH7 (OMIM #: 160760) • “CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2; CMH2”...

Genetic TestsAR (Androgen Receptor ) Analysis

Test Name & Code: • Test Name: AR (Androgen Receptor ) Analysis • Test Code: 3569 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...

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 TestsGlycogen Storage Disease Ia G6PC Gene Testing

Test Name & Code: • Test Name: Glycogen Storage Disease Ia G6PC Gene Testing • Test Code: 3566 Related Diseases & Genes: • GLYCOGEN STORAGE DISEASE Ia (OMIM #: 232200) || Gene: G6PC (OMIM #: 613742) Synonyms: • GSD Ia • GLYCOGEN STORAGE DISEASE I; GSD1 • VON GIERKE DISEASE • HEPATORENAL FORM OF GLYCOGEN...

Genetic TestsMYOC gene testing

Test Name & Code: • Test Name: MYOC gene testing • Test Code: 3562 Related Diseases & Genes: • “GLAUCOMA 1, OPEN ANGLE, A” (OMIM #: 137750) || Gene: MYOC (OMIM #: 601652) • “GLAUCOMA 1, OPEN ANGLE, L, INCLUDED” Synonyms: • “GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET, 1” • JOAG1 • GLC1A • “GLC1L, INCLUDED”...

Genetic Tests13q14.3 (D13S319) Deletion

Test Name & Code: • Test Name: 13q14.3 (D13S319) Deletion • Test Code: 3532 Related Diseases & Genes: • “LEUKEMIA, ACUTE LYMPHOBLASTIC; ALL” (OMIM #: 613065) • “LEUKEMIA, CHRONIC LYMPHOCYTIC; CLL” (OMIM #: 151400) • “MYELOMA, MULTIPLE” (OMIM #: 254500) • “Non-Hodgkin lymphoma, somatic” (OMIM #: 605027) Synonyms: • 13q14 Deletion • D13S319 Deletion Test...

Genetic Tests20q13.2 (LSI ZNF217) Deletion

Test Name & Code: • Test Name: 20q13.2 (LSI ZNF217) Deletion • Test Code: 3530 Related Diseases & Genes: • MYELODYSPLASTIC SYNDROME; MDS (OMIM #: 614286) Synonyms: • ZNF217 Gene Deletion • Zinc Finger Protein 217 Deletion Test Details: • Methodology: FISH • Performed: Everyday • Reported: 1 week Specimen Details: • Specimen Collection: Peripheral...

Genetic TestsCEBPA Gene Mutation

Test Name & Code: • Test Name: CEBPA Gene Mutation • Test Code: 3499 Related Diseases & Genes: • “Leukemia, acute myeloid” (OMIM #: 601626) || Gene: CEBPA (OMIM #: 116897) Synonyms: • CCAAT/ENHANCER-BINDING PROTEIN, ALPHA • C/EBP-ALPHA • CEBP Test Details: • Methodology: RT-PCR (melting point) • Performed: Everyday • Reported: 1 week Specimen...

Genetic TestsNPM1 Mutation (MUTA, MUTB, MUTD)

Test Name & Code: • Test Name: NPM1 Mutation (MUTA, MUTB, MUTD) • Test Code: 3498 Related Diseases & Genes: • Leukemia, acute myeloid (OMIM #: 601626) || Gene: NPM1 (OMIM #: 164040) • Leukemia, acute promyelocytic, NPM/RARA type Synonyms: • “NUCLEOPHOSMIN/NUCLEOPLASMIN FAMILY, MEMBER 1” Test Details: • Methodology: RT-PCR (melting point) • Performed: Everyday...

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 TestsMFRP Gene Sequence Analysis

Test Name & Code: • Test Name: MFRP Gene Sequence Analysis • Test Code: 3491 Related Diseases & Genes: • “Microphthalmia, isolated 5” (OMIM #: 611040) || Gene: MFRP (OMIM #: 606227) • Nanophthalmos 2 (OMIM #: 609549) Synonyms: • MEMBRANE-TYPE FRIZZLED-RELATED PROTEIN Test Details: • Methodology: qRT-PCR (melting point) • Performed: Everyday • Reported:...

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 TestsMGMT Gene Methylation Analysis

Test Name & Code: • Test Name: MGMT Gene Methylation Analysis • Test Code: 3467 Related Diseases & Genes: • Response to temozolomide in low-grade gliomas || Gene: MGMT (OMIM #: 156569) • Prognostic significance in colorectal cancer Synonyms: • METHYLGUANINE-DNA METHYLTRANSFERASE Test Details: • Methodology: MLPA • Reported: 3 weeks Specimen Details: • Specimen...

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 TestsPCA3

Test Name & Code: • Test Name: PCA3 • Test Code: 3410 Related Diseases & Genes: • “Prostate cancer, somatic” (OMIM #: 176807) || Gene: PCA3 (OMIM #: 604845) Synonyms: • PROSTATE CANCER ANTIGEN 3 Test Details: • Methodology: qRT-PCR • Performed: Everyday • Reported: 7-10 days Specimen Details: • Specimen Collection: Urine (following RT)...

Genetic TestsNRAS Mutations

Test Name & Code: • Test Name: NRAS Mutations • Test Code: 3405 Related Diseases & Genes: • Autoimmune lymphoproliferative syndrome type IV (OMIM #: 614470) || Gene: NRAS (OMIM #: 164790) • Colorectal cancer, somatic (OMIM #: 114500) • Epidermal nevus, somatic (OMIM #: 162900) • Noonan syndrome 6 (OMIM #: 613224) Synonyms: •...

Genetic TestsRET Mutations

Test Name & Code: • Test Name: RET Mutations • Test Code: 3404 Related Diseases & Genes: • Multiple endocrine neoplasia IIA (OMIM #: 171400) || Gene: RET (OMIM #: 164761) • Multiple endocrine neoplasia IIB (OMIM #: 162300) • Medullary thyroid carcinoma (OMIM #: 155240) Synonyms: • Rearranged During Transfection Protooncogene • RET Protooncogene...

Genetic TestsSCE Test

Test Name & Code: • Test Name: SCE Test • Test Code: 3391 Related Diseases & Genes: • Sister Chromatid Exchange (OMIM #: 182220) Synonyms: • Sister Chromatid Exchange Test Details: • Methodology: Cytogenetics; Induced Tissue Culture • Performed: Everyday • Reported: 2 weeks Specimen Details: • Specimen Collection: Peripheral blood • Container: Tube with...

Genetic TestsMODY Type 1 (HNF4A Gene)

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

Genetic TestsFucosidosis FUCA1 Gen Analizi

Test Name & Code: • Test Name: Fucosidosis FUCA1 Gen Analizi • Test Code: 3384 Related Diseases & Genes: • Fucosidosis (OMIM #: 230000) || Gene: FUCA1 (OMIM #: 612280) Synonyms: • ALPHA-L-FUCOSIDASE DEFICIENCY • ALPHA-L-FUCOSIDASE 1 • “FUCOSIDASE, ALPHA-L, TISSUE; FUCA” Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 4 weeks...

Genetic TestsNonSmall Cell Lung Cancer Genetic Panel

Test Name & Code: • Test Name: NonSmall Cell Lung Cancer Genetic Panel • Test Code: 3383 Related Diseases & Genes: • “Adenocarcinoma of lung, response to tyrosine kinase inhibitor in” (OMIM #: 211980)|| Gene: EGFR (OMIM #: 131550) • “Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in” (OMIM #: 211980) || Gene:...

Genetic TestsCitrullinemia Type I Genetic Testing

Test Name & Code: • Test Name: Citrullinemia Type I Genetic Testing • Test Code: 3379 Related Diseases & Genes: • Classic Citrullinemia (OMIM #: 215700) || Gene: ASS1 (OMIM #: 603470) Synonyms: • CITRULLINEMIA, TYPE I; CTLN1 • CITRULLINURIA • ARGININOSUCCINATE SYNTHETASE DEFICIENCY • ASS DEFICIENCY Test Details: • Methodology: DNA Sequencing • Performed:...

Genetic TestsCongenital Adrenal Hypoplasia Mutation Analysis

Test Name & Code: • Test Name: Congenital Adrenal Hypoplasia Mutation Analysis • Test Code: 3376 Related Diseases & Genes: • “ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM; AHCH” (OMIM #: 300200) || Gene: NR0B1 (OMIM #: 300473) • “46,XY SEX REVERSAL 2; SRXY2” (OMIM #: 300018) Synonyms: • DAX1 • “46,XY SEX REVERSAL, DAX1-RELATED”...

Genetic TestsCongenital Adrenal Hypoplasia Deletion Analysis

Test Name & Code: • Test Name: Congenital Adrenal Hypoplasia Deletion Analysis • Test Code: 3371 Related Diseases & Genes: • “ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM; AHCH” (OMIM #: 300200)|| Gene: NR0B1 (OMIM #: 300473) • “46,XY SEX REVERSAL 2; SRXY2” (OMIM #: 300018) Synonyms: • DAX1 • “46,XY SEX REVERSAL, DAX1-RELATED” • DOSAGE-SENSITIVE...

Genetic TestsPFIC3 Genetic Analysis

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

Genetic TestsPFIC2 Genetic Analysis

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

Genetic TestsPFIC1 Genetic Analysis

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

Genetic TestsAMHR Genetic Analysis

Test Name & Code: • Test Name: AMHR Genetic Analysis • Test Code: 3334 Related Diseases & Genes: • “Persistent Mullerian duct syndrome, type II” (OMIM #: 261550) || Gene: AMHR2 (OMIM #: 600956) Synonyms: -none- Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 4 weeks Specimen Details: • Specimen Collection: Peripheral...

Genetic TestsAMH Genetic Analysis

Test Name & Code: • Test Name: AMH Genetic Analysis • Test Code: 3329 Related Diseases & Genes: • “Persistent Mullerian duct syndrome, type I” (OMIM #: 261550) || Gene: AMH (OMIM #: 600957) Synonyms: -none- Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 4 weeks Specimen Details: • Specimen Collection: Peripheral...

Genetic TestsPROP1 Genetic Analysis

Test Name & Code: • Test Name: PROP1 Genetik Test • Test Code: 3328 Related Diseases & Genes: • Pituitary hormone deficiency, combined, 2 (OMIM #: 262600) || Gene: PROP1 (OMIM #: 601538) Synonyms: -none- Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 4 weeks Specimen Details: • Specimen Collection: Peripheral blood...

Genetic TestsPON1 Polymorphism (163T>A, 575A>G)

Test Name & Code: • Test Name: PON1 Polymorphism (163T>A, 575A>G) • Test Code: 3314 Related Diseases & Genes: • “Coronary artery disease, susceptibility to” (OMIM #: “Coronary artery spasm 2, susceptibility to”) || Gene: PON1 (OMIM #: 168820) Synonyms: • PARAOXONASE 1 • PARAOXONASE 1 Polymorphism • c.163T>A • c.575A>G Test Details: • Methodology:...

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 Tests11-Beta-Hydroxylase Gene (CYP11B1) Mutations

Test Name & Code: • Test Name: 11-Beta-Hydroxylase Gene (CYP11B1) Mutations • Test Code: 3312 Related Diseases & Genes: • “Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency” (OMIM #: 202010) || Gene: CYP11B1 (OMIM #: 610613) • “Aldosteronism, glucocorticoid-remediable” (OMIM #: 103900) Synonyms: • “Cytochrome P450, Subfamily XIB, Polypeptide 1” • 11-beta-hydroxylase deficiency • CYP11B1...

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 TestsCongenital Adrenal Hyperplasia (CYP21A2 Gene)

Test Name & Code: • Test Name: Congenital Adrenal Hyperplasia (CYP21A2 Gene) • Test Code: 3267 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...

Genetic TestsBeta-Thalassemias deletion/duplication analysis

Test Name & Code: • Test Name: Beta-Thalassemias deletion/duplication analysis • Test Code: 3265 Related Diseases & Genes: • Beta Thalassemias (OMIM #: 613985) || Gene: HBB (OMIM #: 141900) Synonyms: • Thalassemia • Mediterranean Anemia Test Details: • Methodology: MLPA • Performed: Everyday • Reported: 3 weeks Specimen Details: • Specimen Collection: Peripheral blood...

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 TestsPOMPE Genetic Analysis

Test Name & Code: • Test Name: POMPE Genetic Analysis • Test Code: 3258 Related Diseases & Genes: • Glycogen storage disease II (OMIM #: 232300) || Gene: GAA (OMIM #: 606800) Synonyms: -none- Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 4 weeks Specimen Details: • Specimen Collection: Peripheral blood •...

Genetic Tests1q21 CKS1B/(1q32-36) CDKN2C

Test Name & Code: • Test Name: 1q21 CKS1B/(1q32-36) CDKN2C • Test Code: 3249 Related Diseases & Genes: • “LEUKEMIA, ACUTE LYMPHOBLASTIC; ALL” (OMIM #: 613065) || Gene: CKS1B (OMIM #: 116900) • “Non-Hodgkin lymphoma, somatic” (OMIM #: 605027) || Gene: CDKN2C (OMIM #: 603369) Synonyms: -none- Test Details: • Methodology: FISH • Performed: Everyday...

Genetic Tests(5)(q32) PDGFRB

Test Name & Code: • Test Name: (5)(q32) PDGFRB • Test Code: 3248 Related Diseases & Genes: • “LEUKEMIA, ACUTE LYMPHOBLASTIC; ALL” (OMIM #: 613065) || Gene: PDGFRB (OMIM #: 173410) Synonyms: -none- Test Details: • Methodology: FISH • Performed: Everyday • Reported: 1 week Specimen Details: • Specimen Collection: Peripheral blood • Container: Tube...

Genetic Tests10q24 TLX1

Test Name & Code: • Test Name: 10q24 TLX1 • Test Code: 3247 Related Diseases & Genes: • “LEUKEMIA, ACUTE LYMPHOBLASTIC; ALL” (OMIM #: 613065) || Gene: TLX1 (OMIM #: 186770) Synonyms: -none- Test Details: • Methodology: FISH • Performed: Everyday • Reported: 1 week Specimen Details: • Specimen Collection: Peripheral blood • Container: Tube...

Genetic Tests22q11 IGL

Test Name & Code: • Test Name: 22q11 IGL • Test Code: 3246 Related Diseases & Genes: • “LEUKEMIA, ACUTE LYMPHOBLASTIC; ALL” (OMIM #: 613065) || Gene: IGL (OMIM #: Location:22q11.2) Synonyms: -none- Test Details: • Methodology: FISH • Performed: Everyday • Reported: 1 week Specimen Details: • Specimen Collection: Peripheral blood • Container: Tube...

Genetic Tests6q23 (MYB) Deletion

Test Name & Code: • Test Name: 6q23 (MYB) Deletion • Test Code: 3245 Related Diseases & Genes: • “LEUKEMIA, CHRONIC LYMPHOCYTIC; CLL” (OMIM #: 151400) • “Non-Hodgkin lymphoma, somatic” (OMIM #: 605027) Synonyms: • MYB Deletion • del 6q23 • 5q Deletion • del 6q Test Details: • Methodology: FISH • Performed: Everyday •...

Genetic Tests14q32 Deletion

Test Name & Code: • Test Name: 14q32 Deletion • Test Code: 3232 Related Diseases & Genes: • “LEUKEMIA, ACUTE LYMPHOBLASTIC; ALL” (OMIM #: 613065) || Gene: IGH (OMIM #: ) • “LEUKEMIA, CHRONIC LYMPHOCYTIC; CLL” (OMIM #: 151400) || Gene: TCR (OMIM #: ) • “Non-Hodgkin lymphoma, somatic” (OMIM #: 605027) Synonyms: • IGH...

Genetic Tests2p12 IGK

Test Name & Code: • Test Name: 2p12 IGK • Test Code: 3231 Related Diseases & Genes: • LEUKEMIA, ACUTE LYMPHOBLASTIC; ALL (OMIM #: 613065) || Gene: IGK (OMIM #: Location:2p12) Synonyms: -none- Test Details: • Methodology: FISH • Performed: Everyday • Reported: 1 week Specimen Details: • Specimen Collection: Peripheral blood • Container: Tube...

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 Tests5q35.1 TLX3

Test Name & Code: • Test Name: 5q35.1 TLX3 • Test Code: 3229 Related Diseases & Genes: • “LEUKEMIA, ACUTE LYMPHOBLASTIC; ALL” (OMIM #: 613065) || Gene: TLX3 (OMIM #: 604640) Synonyms: -none- Test Details: • Methodology: FISH • Performed: Everyday • Reported: 1 week Specimen Details: • Specimen Collection: Peripheral blood • Container: Tube...

Genetic Tests7q34 TCRB

Test Name & Code: • Test Name: 7q34 TCRB • Test Code: 3228 Related Diseases & Genes: • “LEUKEMIA, ACUTE LYMPHOBLASTIC; ALL” (OMIM #: 613065) || Gene: TCRB (OMIM #: 186930) Synonyms: -none- Test Details: • Methodology: FISH • Performed: Everyday • Reported: 1 week Specimen Details: • Specimen Collection: Peripheral blood • Container: Tube...

Genetic TestsBRCA1 and BRCA2 Gene Mutations

Test Name & Code: • Test Name: BRCA1 and BRCA2 Gene Mutations • Test Code: 3209 Related Diseases & Genes: • “Breast-ovarian cancer, familial, 1” (OMIM #: 604370) || Gene: BRCA1 (OMIM #: 113705) • “Breast-ovarian cancer, familial, 2” (OMIM #: 612555) || Gene: BRCA2 (OMIM #: 600185) Synonyms: • BRCA1 Whole Gene Sequence Analysis...

Genetic TestsTranslocation (14;20)(q32;q12)(IGH/MAFB) (FISH)

Test Name & Code: • Test Name: Translocation (14;20)(q32;q12)(IGH/MAFB) (FISH) • Test Code: 3208 Related Diseases & Genes: • “LEUKEMIA, ACUTE LYMPHOBLASTIC; ALL” (OMIM #: 613065) || Gene: IGH (OMIM #: Location:14q32.33) || Gene: MAFB (OMIM #: 608968) Synonyms: -none- Test Details: • Methodology: FISH • Performed: Everyday • Reported: 1 week Specimen Details: •...

Genetic TestsChromosome Analysis from Skin Biopsy

Test Name & Code: • Test Name: Chromosome Analysis from Skin Biopsy • Test Code: 3206 Related Diseases & Genes: -not applicable- Synonyms: • Karyotype Analysis (skin biopsy material) • Conventional Cytogenetic (skin bopsy material) • Cytogenetic Analysis (skin biopsy material) Test Details: • Methodology: Cytogenetic; Tissue Culture • Performed: Everyday • Reported: 3-4 weeks...

Genetic TestsChromosome Analysis in Chorionic villus sampling (CVS)

Test Name & Code: • Test Name: Chromosome Analysis in Chorionic villus sampling (CVS) • Test Code: 3205 Related Diseases & Genes: -not applicable- Synonyms: • Chromosome Analysis in Chorionic Villus Material • Karyotype Analysis in Chorionic Villus Material • Conventional Cytogenetics (chorionic villus material) • Cytogenetic Evaluation (chorionic villus material) Test Details: • Methodology:...

Genetic TestsChromosome Analysis in Fetal Blood

Test Name & Code: • Test Name: Chromosome Analysis in Fetal Blood • Test Code: 3203 Related Diseases & Genes: -not applicable- Synonyms: • Karyotype Analysis (fetal blood) • Conventional Cytogenetics (fetal blood) • Cytogenetic Evaluation (fetal blood) • Chromosome Analysis in Cordocentesis Test Details: • Methodology: Cytogenetics; 72 hours induced tissue culture • Performed:...

Genetic TestsChromosome Analysis in Peripheral Blood

Test Name & Code: • Test Name: Chromosome Analysis in Peripheral Blood • Test Code: 3202 Related Diseases & Genes: -not applicable- Synonyms: • Chromosome Analysis from Peripheral Blood • Karyotyping Analysis (peripheral blood) • Conventional Cytogenetics (peripheral blood) • Cytogenetic Evaluation (peripheral blood) Test Details: • Methodology: Cytogenetics; 72 hours induced tissue culture •...

Genetic TestsChromosome Analysis in Amniotic Fluid

Test Name & Code: • Test Name: Chromosome Analysis in Amniotic Fluid • Test Code: 3201 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: Cytogenetic; Tissue Culture •...

Genetic TestsRapid Detection of Trisomy (QF-PCR)

Test Name & Code: • Test Name: Rapid Detection of Trisomy (QF-PCR) • Test Code: 3200 Related Diseases & Genes: -not applicable- Synonyms: • QF-PCR (amniotic fluid/liquid) Test Details: • Methodology: QF-PCR • Performed: Everyday • Reported: 2 days Specimen Details: • Specimen Collection: Amniotic fluid/liquid • Container: Sterile Syringe • Specimen Volume/Amount: > 5...

Genetic TestsTranslocation (6;14)(p21;q32)(CCND3/IGH) (FISH)

Test Name & Code: • Test Name: Translocation (6;14)(p21;q32)(CCND3/IGH) (FISH) • Test Code: 3198 Related Diseases & Genes: • “LEUKEMIA, ACUTE LYMPHOBLASTIC; ALL” (OMIM #: 613065) || Gene: IGH (OMIM #: Location:14q32.33) || Gene: CCND3 (OMIM #: 123834) Synonyms: -none- Test Details: • Methodology: FISH • Performed: Everyday • Reported: 1 week Specimen Details: •...

Genetic TestsMPL Mutation Analysis

Test Name & Code: • Test Name: MPL Mutation Analysis • Test Code: 3194 Related Diseases & Genes: • “Thrombocytopenia, congenital amegakaryocytic” (OMIM #: 604498) || Gene: MPL (OMIM #: 159530) Synonyms: • Thrombopoietin Receptor (TPOR) • CAMT Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 3 weeks Specimen Details: • Specimen...

Genetic TestsCanavan Disease Genetic Analysis (ASPA Gene)

Test Name & Code: • Test Name: Canavan Disease Genetic Analysis (ASPA Gene) • Test Code: 3193 Related Diseases & Genes: • Canavan disease (OMIM #: 271900) || Gene: ASPA (OMIM #: 608034) Synonyms: • Aspartoacylase Deficiency • ASPA Gene Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 3 weeks Specimen Details:...

Genetic TestsBMP4 Gene Sequence Analysis

Test Name & Code: • Test Name: BMP4 Gene Sequence Analysis • Test Code: 3192 Related Diseases & Genes: • Microphthalmia, syndromic 6 (OMIM #: 607932) || Gene: BMP4 (OMIM #: 112262) • Orofacial cleft 11 (OMIM #: 600625) Synonyms: • BONE MORPHOGENETIC PROTEIN 4 • BONE MORPHOGENETIC PROTEIN 2B • BMP2B • BMP2B1 Test...

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:...