Dysmorphology – Duzen Laboratories Group Genetic Diseases Evaluation Center

Genetic TestsMitomycin C Test

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

Genetic TestsNOONAN Syndrome

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

Genetic TestsAR Deletion/Duplication Analysis

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

Genetic 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 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 TestsSOS1 Gene Sequencing

Test Name & Code: • Test Name: SOS1 Gene Sequencing • Test Code: 4783 Related Diseases & Genes: • Noonan syndrome 4 (OMIM #: 610733) || Gene: SOS1 (OMIM #: 182530) • “Fibromatosis, gingival, 1” (OMIM #: 135300) Synonyms: • “SON OF SEVENLESS, DROSOPHILA, HOMOLOG 1” • SOS1 GUANINE NUCLEOTIDE EXCHANGE FACTOR Test Details: •...

Genetic TestsIGF1R Gene Sequencing

Test Name & Code: • Test Name: IGF1R Gene Sequencing • Test Code: 4781 Related Diseases & Genes: • “Insulin-like growth factor I, resistance to” (OMIM #: 270450) || Gene: IGF1R (OMIM #: 147370) Synonyms: -none- Test Details: • Methodology: Next Generation DNA Sequencing • Performed: Everyday • Reported: 4 weeks Specimen Details: • Specimen...

Genetic TestsPseudoxanthoma Elasticum Gene Test

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

Genetic TestsPolycystic Kidney Disease (PKD) Type II (Adult)

Test Name & Code: • Test Name: Polycystic Kidney Disease (PKD) Type II (Adult) • Test Code: 4668 Related Diseases & Genes: • Polycystic kidney disease 2 (OMIM #: 613095)|| Gene: PKD2 (OMIM #: 173910) Synonyms: • APKD2 Test Details: • Methodology: Next Generation DNA Sequencing • Performed: Everyday • Reported: 3 weeks Specimen Details:...

Genetic TestsPolycystic Kidney Disease (PKD) Type I (Adult)

Test Name & Code: • Test Name: Polycystic Kidney Disease (PKD) Type I (Adult) • Test Code: 4667 Related Diseases & Genes: • “Polycystic kidney disease, adult type I” (OMIM #: 173900) || Gene: PKD1 (OMIM #: 601313) Synonyms: • APKD1 Test Details: • Methodology: Next Generation DNA Sequencing • Performed: Everyday • Reported: 3...

Genetic 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 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 TestsBrugada Syndrome

Test Name & Code: • Test Name: Brugada Syndrome • Test Code: 4322 Related Diseases & Genes: • Brugada Syndrome (BRGDA) (OMIM #: 601144) || Gene: SCN5A (OMIM #: 600163) Synonyms: • SCN5A Mutations • “RIGHT BUNDLE BRANCH BLOCK, ST SEGMENT ELEVATION, AND SUDDEN DEATH SYNDROME” • SUDDEN UNEXPLAINED NOCTURNAL DEATH SYNDROME; SUNDS Test Details:...

Genetic TestsNF1 Genetic Test

Test Name & Code: • Test Name: NF1 Genetic Test • Test Code: 4260 Related Diseases & Genes: • “NEUROFIBROMATOSIS, TYPE I” (OMIM #: 162200) || Gene: NF1 (OMIM #: 613113) Synonyms: • NF1 • “NEUROFIBROMATOSIS, PERIPHERAL TYPE” • VON RECKLINGHAUSEN DISEASE Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 8 weeks...

Genetic 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 TestsPEUTZ-JEGHERS Syndrome (STK11)

Test Name & Code: • Test Name: PEUTZ-JEGHERS Syndrome (STK11) • Test Code: 4100 Related Diseases & Genes: • “PEUTZ-JEGHERS SYNDROME, PJS” (OMIM #: 175200) || Gene: STK11 (OMIM #: 602216) Synonyms: -none- Test Details: • Methodology: DNA Sequencing Specimen Details: Testing Area(s): • Dysmorphology

Genetic TestsCoffin-Lowry Syndrome (RSK2)

Test Name & Code: • Test Name: Coffin-Lowry Syndrome (RSK2) • Test Code: 4099 Related Diseases & Genes: • Coffin-Lowry Syndrome (OMIM #: 303600) || Gene: RPS6KA3 (OMIM #: 300075) Synonyms: -none- Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 3 weeks Specimen Details: • Specimen Collection: Peripheral blood • Container: Tube...

Genetic 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 TestsSOX9 Mutations

Test Name & Code: • Test Name: SOX9 Mutations • Test Code: 4030 Related Diseases & Genes: • Acampomelic campomelic dysplasia (OMIM #: 114290) || Gene: SOX9 (OMIM #: 608160) • Campomelic dysplasia (OMIM #: 114290) • Campomelic dysplasia with autosomal sex reversal (OMIM #: 114290) Synonyms: • SRY-RELATED HMG-BOX GENE 9 • SRY-BOX 9...

Genetic 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...

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Test Name & Code: • Test Name: Kartagener Syndrome Primary Ciliary Dyskinesia [CILD1 (DNAI1) Gene DNA Sequence Analysis] • Test Code: 4008 Related Diseases & Genes: • “Ciliary dyskinesia, primary, 1, with or without situs inversus” (OMIM #: 244400) || Gene: DNAI1 (OMIM #: 604366) Synonyms: • IMMOTILE CILIA SYNDROME; ICS • POLYNESIAN BRONCHIECTASIS Test...

Genetic TestsALPORT Syndrome

Test Name & Code: • Test Name: ALPORT Syndrome • Test Code: 3954 Related Diseases & Genes: • “ALPORT SYNDROME, AUTOSOMAL DOMINANT” (OMIM #: 104200) || Gene: COL4A3 (OMIM #: 120070) • “ALPORT SYNDROME, AUTOSOMAL RECESSIVE” (OMIM #: 203780) || Gene: COL4A4 (OMIM #: 120131) • “ALPORT SYNDROME, X-LINKED; ATS” (OMIM #: 301050) || Gene:...

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 TestsSingle Chromosome Painting (FISH)

Test Name & Code: • Test Name: Single Chromosome Painting (FISH) • Test Code: 3800 Related Diseases & Genes: -not applicable- Synonyms: • Chromosome Specific FISH Test Details: • Methodology: FISH • Performed: Everyday • Reported: 7-10 days Specimen Details: • Specimen Collection: Peripheral blood • Container: Tube with Heparin • Specimen Volume/Amount: > 3ml...

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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 TestsHypochondroplasia Mutation Analysis

Test Name & Code: • Test Name: Hypochondroplasia Mutation Analysis • Test Code: 3109 Related Diseases & Genes: • Hypochondroplasia (OMIM #: 146000) || Gene: FGFR3 (OMIM #: 134934) Synonyms: • FIBROBLAST GROWTH FACTOR RECEPTOR 3 Test Details: • Methodology: PCR-RFLP • Performed: Everyday • Reported: 2 weeks Specimen Details: • Specimen Collection: Peripheral blood...

Genetic TestsAchondroplasia Mutation Analysis (FGFR3 Gene)

Test Name & Code: • Test Name: Achondroplasia Mutation Analysis (FGFR3 Gene) • Test Code: 3101 Related Diseases & Genes: • Achondroplasia (OMIM #: 100800) || Gene: FGFR3 (OMIM #: 134934) Synonyms: -none- Test Details: • Methodology: PCR-RFLP • Performed: Everyday • Reported: 2 weeks Specimen Details: • Specimen Collection: Peripheral blood • Container: Tube...

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 TestsSingle Chromosome Subtelomeric (FISH)

Test Name & Code: • Test Name: Single Chromosome Subtelomeric (FISH) • Test Code: 2770 Related Diseases & Genes: -not applicable- Synonyms: • Detection of Subtelomeric Rearrangements • Detection of Telomeric Rearrangement • Multiprobe FISH Telomere Test Details: • Methodology: FISH • Performed: Everyday • Reported: 7-10 days Specimen Details: • Specimen Collection: Peripheral blood...

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 TestsNIJMEGEN SYNDROME

Test Name & Code: • Test Name: NIJMEGEN SYNDROME • Test Code: 2425 Related Diseases & Genes: • Nijmegen breakage syndrome (OMIM #: 251260) || Gene: NBS1 (OMIM #: 602667) Synonyms: • “NIJMEGEN BREAKAGE SYNDROME, NBS” • 657del5 Mutation • SEEMANOVA SYNDROME II • “NONSYNDROMAL MICROCEPHALY, AUTOSOMAL RECESSIVE, WITH NORMAL INTELLIGENCE” • “IMMUNODEFICIENCY, MICROCEPHALY, AND CHROMOSOMAL INSTABILITY” • ATAXIA-TELANGIECTASIA...

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 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 TestsChromosome Analysis from Solid Tissue Material

Test Name & Code: • Test Name: Chromosome Analysis from Solid Tissue Material • Test Code: 2255 Related Diseases & Genes: -not applicable- Synonyms: • Karyotype Analysis (solid tissue material) • Conventional Cytogenetic (solid tissue material) • Cytogenetic Analysis (solid tissue material) • Chromosome Analysis in Solid Tissue Biopsy Test Details: • Methodology: Cytogenetics; Tissue...

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 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 TestsWhole Chromosome Painting (FISH) (46 chromosomes)

Test Name & Code: • Test Name: Whole Chromosome Painting (FISH) (46 chromosomes) • Test Code: 2137 Related Diseases & Genes: -not applicable- Synonyms: • Multiprobe FISH whole chromosome • Specific FISH for 46 Chromosomes Test Details: • Methodology: FISH • Performed: Everyday • Reported: 7-10 days Specimen Details: • Specimen Collection: Peripheral blood •...

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...