DNA Sequencing – Page 2 – Duzen Laboratories Group Genetic Diseases Evaluation Center

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 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 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 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 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 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 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 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 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 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”...

UncategorizedPhenylketonuria Gene Sequence Analysis (PAH Gene)

Test Name & Code: • Test Name: Phenylketonuria Gene Sequence Analysis (PAH Gene) • Test Code: 3370 Related Diseases & Genes: • Phenylketonuria (OMIM #: 261600) || Gene: PAH (OMIM #: 612349) Synonyms: • PKU Genetic Analysis • Phenylalanine Hydroxylase Gene Deficiency • PAH Mutations Test Details: • Methodology: DNA Sequencing • Performed: Everyday...

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 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 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 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 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 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:...

Genetic TestsFGFR2 sequencing

Test Name & Code: • Test Name: FGFR2 sequencing • Test Code: 3185 Related Diseases & Genes: • Crouzon (OMIM #: 123500) || Gene: FGFR2 (OMIM #: 176943) • Apert syndrome (OMIM #: 101200) • Pfeiffer syndrome (OMIM #: 101600) • Jackson-Weiss syndrome (OMIM #: 123150) • Beare-Stevenson (OMIM #: 123790) Synonyms: -none- Test Details:...

Genetic TestsFGFR1 Sequencing

Test Name & Code: • Test Name: FGFR1 Sequencing • Test Code: 3184 Related Diseases & Genes: • Pfeiffer syndrome (OMIM #: 101600) || Gene: FGFR1 (OMIM #: 136350) • Jackson-Weiss syndrome (OMIM #: 123150) • Trigonocephaly 1 (OMIM #: 190440) • Osteoglophonic Dysplasia (OMIM #: 166250) • Autosomal dominant Kallmann syndrome 2 (OMIM #:...

Genetic TestsAdrenoleukodystrophy (ABCD1 Gene)

Test Name & Code: • Test Name: Adrenoleukodystrophy (ABCD1 Gene) • Test Code: 3183 Related Diseases & Genes: • ADRENOLEUKODYSTROPHY (OMIM #: 300100) || Gene: ABCD1 (OMIM #: 300371) Synonyms: • Addison Disease and Cerebral Sclerosis • X-ALD • X-linked adrenoleukodystrophy • ABCD1 Mutations Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported:...

Genetic TestsWaardenburg Syndrome

Test Name & Code: • Test Name: Waardenburg Syndrome • Test Code: 3182 Related Diseases & Genes: • Waardenburg syndrome, type 1 (OMIM #: 193500) || Gene: PAX3 (OMIM #: 606597) Synonyms: • WAARDENBURG SYNDROME WITH DYSTOPIA CANTHORUM • PAX3 Mutations Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 2-3 weeks Specimen Details: •...

Genetic TestsCONNEXIN26 Mutations

Test Name & Code: • Test Name: CONNEXIN26 Mutations • Test Code: 3181 Related Diseases & Genes: • Bart-Pumphrey syndrome (OMIM #: 149200) || Gene: GJB2 (OMIM #: 121011) • “Deafness, autosomal dominant 3A” (OMIM #: 601544) • “Deafness, autosomal recessive 1A” (OMIM #: 220290) • Hystrix-like ichthyosis with deafness (OMIM #: 602540) Synonyms: •...

Genetic TestsPlasminogen Activator Inhibitor 1 Polymorphism

Test Name & Code: • Test Name: Plasminogen Activator Inhibitor 1 Polymorphism • Test Code: 3119 Related Diseases & Genes: • Plasminogen activator inhibitor-1 deficiency (OMIM #: 613329) || Gene: PAI1 (OMIM #: 173360) Synonyms: • PLASMINOGEN ACTIVATOR INHIBITOR 1 • “SERPIN PEPTIDASE INHIBITOR, CLADE E (NEXIN, PLASMINOGEN ACTIVATOR INHIBITOR TYPE 1), MEMBER 1 (SERPINE1)” • PAI1 Polymorphism Test Details:...

Genetic TestsFGFR3 Sequence Analysis

Test Name & Code: • Test Name: FGFR3 Sequence Analysis • Test Code: 3116 Related Diseases & Genes: • Achondroplasia (OMIM #: 100800) || Gene: FGFR3 (OMIM #: 134934) • “Bladder cancer, somatic” (OMIM #: 109800) • CATSHL syndrome (OMIM #: 610474) • “Cervical cancer, somatic” (OMIM #: 603956) Synonyms: • Fibroblast Growth Factor Receptor...

Genetic TestsFamilial Mediterranean Fever Gene Sequence Analysis

Test Name & Code: • Test Name: Familial Mediterranean Fever Gene Sequence Analysis • Test Code: 3115 Related Diseases & Genes: • “Familial Mediterranean fever, AD” (OMIM #: 134610) || Gene: MEFV (OMIM #: 608107) • “Familial Mediterranean fever, AR” (OMIM #: 249100) Synonyms: • FMF Genetic Analysis • MEFV Gene Sequence Analysis • Familial...

Genetic TestsBeta-Thalassemias (Hemoglobin Beta Gene) Sequence Analysis

Test Name & Code: • Test Name: Beta-Thalassemias (Hemoglobin Beta Gene) Sequence Analysis • Test Code: 3114 Related Diseases & Genes: • Beta Thalassemias (OMIM #: 613985) || Gene: HBB (OMIM #: 141900) Synonyms: • Thalassemia • Mediterranean Anemia Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 1 week Specimen Details: •...

Genetic TestsShwachman-Diamond SBDS Sequence Analysis

Test Name & Code: • Test Name: Shwachman-Diamond SBDS Sequence Analysis • Test Code: 2988 Related Diseases & Genes: • Shwachman-Diamond Syndrome (OMIM #: 260400) || Gene: SBDS (OMIM #: 607444) Synonyms: • PANCREATIC INSUFFICIENCY AND BONE MARROW DYSFUNCTION • SHWACHMAN-BODIAN SYNDROME • LIPOMATOSIS OF PANCREAS, CONGENITAL • SDS • SWDS • CGI-97 Test Details:...

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 TestsCSF3R mutasyonları

Test Name & Code: • Test Name: CSF3R mutasyonları • Test Code: 2985 Related Diseases & Genes: • Hereditary Neutrophilia (OMIM #: 162830) || Gene: CSF3R (OMIM #: 138971) • Severe Congenital Neutropenia-1 (OMIM #: 202700) • Severe Congenital Neutropenia-3 (OMIM #: 610738) Synonyms: • GCSFR • SCN1 • SCN3 Test Details: • Methodology: DNA...

Genetic TestsMethylmalonic Aciduria Genetic Test (MUT Gene)

Test Name & Code: • Test Name: Methylmalonic Aciduria Genetic Test (MUT Gene) • Test Code: 2931 Related Diseases & Genes: • Methylmalonic aciduria (OMIM #: 251000) || Gene: MUT (OMIM #: 609058) Synonyms: • Methylmalonyl-CoA Mutase Gene Mutations • MCM Mutations Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 2-3 weeks...

Genetic TestsIsovaleric Acidemia Genetic Test (IVD Gene)

Test Name & Code: • Test Name: Isovaleric Acidemia Genetic Test (IVD Gene) • Test Code: 2930 Related Diseases & Genes: • Isovaleric acidemia (OMIM #: 243500) || Gene: IVD (OMIM #: 607036) Synonyms: • IVD Mutations • Isovaleryl-CoA Dehydrogenase Mutations Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 2-3 weeks Specimen...

Genetic TestsMaple Syrup Urine Disease (BCKDHA, BCKDHB, DBT Genes)

Test Name & Code: • Test Name: Maple Syrup Urine Disease (BCKDHA, BCKDHB, DBT Genes) • Test Code: 2929 Related Diseases & Genes: • “Maple syrup urine disease, type Ia” (OMIM #: 248600) || Gene: BCKDHA (OMIM #: 608348) • “Maple syrup urine disease, type Ib” (OMIM #: 248600) || Gene: BCKDHB (OMIM #: 248611)...

Genetic TestsFanconi-Bickel Syndrome (SLC2A2 Gene)

Test Name & Code: • Test Name: Fanconi-Bickel Syndrome (SLC2A2 Gene) • Test Code: 2782 Related Diseases & Genes: • Fanconi-Bickel syndrome (OMIM #: 227810) || Gene: SLC2A2 (OMIM #: 138160) Synonyms: • Glycogen Storage Disease XI • SLC2A2 Gene Mutations • Solute Carrier Family 2 (Facilitated Glucose Transporter), Member 2 Test Details: Methodology: DNA Sequencing...

Genetic TestsOSTEOGENESIS IMPERFECTA (COL1A1 Gene)

Test Name & Code: • Test Name: OSTEOGENESIS IMPERFECTA (COL1A1 Gene) • Test Code: 2781 Related Diseases & Genes: • Osteogenesis imperfecta, type I (OMIM #: 166200) || Gene: COL1A1 (OMIM #: 120150) Synonyms: • Collagen Production Defect • Ehlers-Danlos Syndrome Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 2 weeks Specimen...

Genetic TestsJAK2 Exon 12 Mutations

Test Name & Code: • Test Name: JAK2 Exon 12 Mutations • Test Code: 2780 Related Diseases & Genes: • Erythrocytosis, somatic (OMIM #: 133100) || Gene: JAK2 (OMIM #: 147796) • Leukemia, acute myelogenous (OMIM #: 601626) • Myelofibrosis, somatic (OMIM #: 254450) • Polycythemia vera (OMIM #: 263300) Synonyms: • JANUS KINASE 2...

Genetic TestsHemochromatosis

Test Name & Code: • Test Name: Hemochromatosis • Test Code: 2775 Related Diseases & Genes: • Hemochromatosis (OMIM #: 235200) || Gene: HFE (OMIM #: 613609) Synonyms: • HFE Mutation Analysis Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 2-3 weeks Specimen Details: • Specimen Collection: Peripheral blood • Container: Tube...

Genetic TestsCystic Fibrosis, Common Mutations (Exon 4,7,9,10,11) Sequence Analysis

Test Name & Code: • Test Name: Cystic Fibrosis, Common Mutations (Exon 4,7,9,10,11) Sequence Analysis • Test Code: 2672 Related Diseases & Genes: • Cystic fibrosis (OMIM #: 219700) || Gene: CFTR (OMIM #: 602421) Synonyms: • Cystic Fibrosis Screen • CFTR Sequence Analysis • Cystic Fibrosis Transmembrane Conductance Regulator Test Details: • Methodology: DNA...

Genetic Tests5 Alpha Reductase Deficiency (Whole Gene Sequence Analysis)

Test Name & Code: • Test Name: 5 Alpha Reductase Deficiency (Whole Gene Sequence Analysis) • Test Code: 2637 Related Diseases & Genes: • Pseudovaginal perineoscrotal hypospadias (OMIM #: 264600) || Gene: SRD5A2 (OMIM #: 607306) Synonyms: • 5 Alpha Reductase Deficiency • Steroid 5-alpha-reductase Test Details: • Methodology: DNA Sequencing • Performed: Everyday •...

Genetic TestsWilson Disease Genetic Analysis

Test Name & Code: • Test Name: Wilson Disease Genetic Analysis • Test Code: 2548 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...

Genetic TestsBRAF Gene V600E Mutation

Test Name & Code: • Test Name: BRAF Gene V600E Mutation • Test Code: 2464 Related Diseases & Genes: • Cardiofaciocutaneous syndrome (OMIM #: 115150) || Gene: BRAF (OMIM #: 164757) • Melanoma, malignant, somatic • Nonsmall cell lung cancer, somatic • Adenocarcinoma of lung, somatic (OMIM #: 211980) Synonyms: • V-RAF Murine Sarcoma Viral...

Genetic TestsPodocin (NPHS2) DNA Sequence Analysis

Test Name & Code: • Test Name: Podocin (NPHS2) DNA Sequence Analysis • Test Code: 2462 Related Diseases & Genes: • Nephrotic syndrome, type 2 (OMIM #: 600995) || Gene: NPHS2 (OMIM #: 604766) Synonyms: -none- Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 4 weeks Specimen Details: • Specimen Collection: Peripheral...

Genetic TestsEGFR Gene Mutations

Test Name & Code: • Test Name: EGFR Gene Mutations • Test Code: 2452 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) Synonyms: • V-ERB-B AVIAN...

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 TestsMARFAN Syndrome (FBN1 Gene DNA Sequence Analysis)

Test Name & Code: • Test Name: MARFAN Syndrome (FBN1 Gene DNA Sequence Analysis) • Test Code: 2405 Related Diseases & Genes: • Marfan syndrome (OMIM #: 154700) || Gene: FBN1 (OMIM #: 134797) Synonyms: • MARFAN SYNDROME, TYPE I; MFS1 Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 1 week Specimen Details:...

Genetic TestsTP53 Gene Sequence Analysis

Test Name & Code: • Test Name: TP53 Gene Sequence Analysis • Test Code: 2390 Related Diseases & Genes: • Adrenal cortical carcinoma (OMIM #: 202300) || Gene: TP53 (OMIM #: 191170) • Breast cancer (OMIM #: 114480) • Choroid plexus papilloma (OMIM #: 260500) • Colorectal cancer (OMIM #: 114500) Synonyms: • TUMOR PROTEIN...

Genetic TestsCKIT Mutations

Test Name & Code: • Test Name: CKIT Mutations • Test Code: 2324 Related Diseases & Genes: • “Gastrointestinal stromal tumor, familial” (OMIM #: 606764) || Gene: KIT (OMIM #: 164920) • “Leukemia, acute myeloid” (OMIM #: 601626) Synonyms: • V-KIT HARDY-ZUCKERMAN 4 FELINE SARCOMA VIRAL ONCOGENE HOMOLOG • KIT ONCOGENE • MAST CELL GROWTH...

Genetic TestsFLT3 Mutations

Test Name & Code: • Test Name: FLT3 Mutations • Test Code: 2313 Related Diseases & Genes: • Leukemia, acute myeloid (OMIM #: 601626) || Gene: FLT3 (OMIM #: 136351) • Leukemia, acute lymphoblastic (OMIM #: 613065) • Leukemia, acute myeloid, reduced survival in (OMIM #: ) Synonyms: • FMS-RELATED TYROSINE KINASE 3 • STEM...

Genetic TestsFluorouracil Toxicity

Test Name & Code: • Test Name: Fluorouracil Toxicity • Test Code: 2307 Related Diseases & Genes: • 5-fluorouracil toxicity (OMIM #: 274270) || Gene: DPYD (OMIM #: 612779) • Dihydropyrimidine dehydrogenase deficiency (OMIM #: 274270) Synonyms: • DPD DEFICIENCY • DPYD DEFICIENCY • DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY • 5-Fluorouracil Activity • DPD*2A Test Details: • Methodology:...

Genetic TestsPropionicacidemia Genetic Test (PCCA, PCCB Genes)

Test Name & Code: • Test Name: Propionicacidemia Genetic Test (PCCA, PCCB Genes) • Test Code: 2236 Related Diseases & Genes: • Propionicacidemia (OMIM #: 606054) || Gene: PCCA (OMIM #: 232000) || Gene: PCCB (OMIM #: 232050) Synonyms: • “Propionyl-CoA Carboxylase, Alpha Subunit” • “Propionyl-CoA Carboxylase, Beta Subunit” Test Details: • Methodology: DNA Sequencing...

Genetic TestsHereditary Fructose Intolerance (ALDOB Gene)

Test Name & Code: • Test Name: Hereditary Fructose Intolerance (ALDOB Gene) • Test Code: 2227 Related Diseases & Genes: • Fructose intolerance (OMIM #: 229600) || Gene: ALDOB (OMIM #: 612724) Synonyms: • Aldolase B Mutations • ALDOB Mutations Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 2 weeks Specimen Details:...

Genetic TestsHemochromatosis (2 mutations)

Test Name & Code: • Test Name: Hemochromatosis (2 Mutations) • Test Code: 2196 Related Diseases & Genes: • Hemochromatosis (OMIM #: 235200) || Gene: HFE (OMIM #: 613609) Synonyms: • HFE Mutation Analysis Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 1 week Specimen Details: • Specimen Collection: Peripheral blood •...

Genetic TestsE-Cadherin Mutations

Test Name & Code: • Test Name: E-Cadherin Mutations • Test Code: 2193 Related Diseases & Genes: • Gastric cancer, familial diffuse, with or without cleft lip and/or palate (OMIM #: 137215) || Gene: CDH1 (OMIM #: 192090) • Endometrial carcinoma, somatic (OMIM #: 608089) Synonyms: • CDH1 Whole Gene Sequence Analysis Test Details: •...

Genetic TestsFamilial Adenomatous Polyposis

Test Name & Code: • Test Name: Familial Adenomatous Polyposis • Test Code: 2179 Related Diseases & Genes: • Adenomatous polyposis coli (OMIM #: 175100) || Gene: APC (OMIM #: 611731) Synonyms: • Gardner Syndrome • FAP • AFAP • APC Mutations Test Details: • Methodology: PCR; DNA Sequencing • Performed: Everyday • Reported: 3...

Genetic TestsPurine Nucleoside Phosphorylase Deficiency

Test Name & Code: • Test Name: PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY • Test Code: 2174 Related Diseases & Genes: • Immunodeficiency due to purine nucleoside phosphorylase deficiency (OMIM #: 613179) || Gene: PNP (OMIM #: 164050) Synonyms: • PNP Sequence Analysis • NUCLEOSIDE PHOSPHORYLASE; NP • PURINE-NUCLEOSIDE:ORTHOPHOSPHATE RIBOSYLTRANSFERASE Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported:...

Genetic TestsAntithrombin III

Test Name & Code: • Test Name: Antithrombin III • Test Code: 2169 Related Diseases & Genes: • Thrombophilia due to antithrombin III deficiency (OMIM #: 613118) || Gene: AT3D (OMIM #: 613118) Synonyms: • ANTITHROMBIN III DEFICIENCY • AT Gene • “Exon 1, 2, 3a, 3b, 4, 5, 6” Test Details: • Methodology: DNA Sequencing •...

Genetic TestsFOXL2 Mutation

Test Name & Code: • Test Name: FOXL2 Mutation • Test Code: 2167 Related Diseases & Genes: • Blepharophimosis, epicanthus inversus, and ptosis, type 1 (OMIM #: 110100) || Gene: FOXL2 (OMIM #: 605597) • Blepharophimosis, epicanthus inversus, and ptosis, type 2 (OMIM #: 110100) • Premature ovarian failure 3 (OMIM #: 608996) Synonyms: •...

Genetic TestsFGF23 Mutations

Test Name & Code: • Test Name: FGF23 Mutations • Test Code: 2142 Related Diseases & Genes: • Hypophosphatemic rickets, autosomal dominant (OMIM #: 193100) || Gene: FGF23 (OMIM #: 605380) • Tumoral calcinosis, hyperphosphatemic, familial (OMIM #: 211900) Synonyms: • Fibroblast Growth Factor 23 Test Details: • Methodology: DNA Sequencing • Performed: Everyday •...

Genetic TestsNORRIE Disease

Test Name & Code: • Test Name: NORRIE Disease • Test Code: 2118 Related Diseases & Genes: • Norrie disease (OMIM #: 310600) || Gene: NDP (OMIM #: 300658) Synonyms: • NDP Gene Mutations • Norin Mutations Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 3 weeks Specimen Details: • Specimen Collection: Peripheral...

Genetic TestsCIAS1 Gene Mutations

Test Name & Code: • Test Name: CIAS1 Gene Mutations • Test Code: 1849 Related Diseases & Genes: • CINCA syndrome (OMIM #: 607115) || Gene: NLRP3 (OMIM #: 606416) • “Cold-induced autoinflammatory syndrome, familial” (OMIM #: 120100) • Muckle-Wells syndrome (OMIM #: 191900) Synonyms: • CIAS1 Gene (CIAS1) • “Nacht Domain-, Leucine-Rich Repeat-, and...