TR EN
ISO 15189 Accredited
CORPORATE ACCESS PATIENT ACCESS PGT FORM
TESTLER
TEST NAME RELATED GENE SAMPLE TYPE TURN AROUND TIME (TAT)
Paroxysmal Nonkinesigenic Dyskinesia 1MR1 (DYT8)Blood with EDTA40 DAYS
Dyslexia panelCNTNAPBlood with EDTA40 DAYS
Dent Disease Type 2OCRLBlood with EDTA40 DAYS
Dent Disease Type 1CLCN5Blood with EDTA40 DAYS
Neurodevelopmental Panel 1CNTNAPBlood with EDTA30 DAYS
Central Hypoventilation SyndromePHOX2BBlood with EDTA30 DAYS
Spastic Paralysis Type 3ATL1Blood with EDTA40 DAYS
RPE Gene ScreeningRPE65Blood with EDTA40 DAYS
Pyridoxine - Dependent Epilepsy AntiguitinALDH7A1Blood with EDTA40 DAYS
Noonan Syndrome Panel PTPN11Blood with EDTA40 DAYS
Limb - Girdle Muscular Distrophy, Autosomal Type 1EDNAJB6Blood with EDTA40 DAYS
Limb - Girdle Muscular Distrophy, Autosomal Type 1C CAV3Blood with EDTA40 DAYS
Limb - Girdle Muscular Distrophy, Autosomal Dominant PanelMYOBlood with EDTA40 DAYS
Limb - Girdle Muscular D, Autosomal Recessive Type 2KPOMT1Blood with EDTA40 DAYS
Legius SyndromeSPRED1Blood with EDTA40 DAYS
Muscular Dystrophy, Congenital Type 1A MLPALAMA2Blood with EDTA40 DAYS
Coffin Lowry SyndromeRPS6KA3 Blood with EDTA40 DAYS
Carasil SyndromeHTRA1Blood with EDTA40 DAYS
Amyotrophic Lateral Sclerosis (5 Exon)SOD1 Blood with EDTA40 DAYS
LeukodystrophyLMNB1Blood with EDTA40 DAYS
DARS2 Sequence AnalysisDARS2Blood with EDTA40 DAYS
Landau - Kleffner SyndromeGRIN2ABlood with EDTA40 DAYS
Myoclonic Atonic EpilepsySLC6A1Blood with EDTA40 DAYS
NF2 MLPA Deletion/Duplication AnalysesNF2Blood with EDTA40 DAYS
NOG Whole Gene Sequence AnalysisNOGBlood with EDTA40 DAYS
Cortical Dysplasia TUBB3 GeneTUBB3Blood with EDTA40 DAYS
Parkinson's Disease PARK2PRKNBlood with EDTA40 DAYS
Pelizaeus - Merzbacher DiseasePLP1Blood with EDTA40 DAYS
Periodic Hypokalemic Paralysis Type 2 (TG) SCN4ASCN4ABlood with EDTA40 DAYS
Adrenoleukodystrophy (ALD)ABCD1Blood with EDTA40 DAYS
ARSACS (Spastic Ataxia of Charlevoix - Saguenay) SACSSACSBlood with EDTA40 DAYS
Tuberosklerosis PanelTSCBlood with EDTA40 DAYS
Neurofibromatosis Panel NFBlood with EDTA40 DAYS
Crisponi SyndromeCRLF1Blood with EDTA40 DAYS
Episodic Ataxia, Type 5CACNB4Blood with EDTA40 DAYS
Epileptic Encephalopathy, Early Infantile, 17GNAO1Blood with EDTA40 DAYS
Marinesco - Sjogren SyndromeSIL1Blood with EDTA40 DAYS
Epileptic Encephalopathy, Early Infantile, 19GABRA1Blood with EDTA40 DAYS
Epilepsy, Generalized, with Febrile Seizures Plus, Type 5GABRDBlood with EDTA30 DAYS
Emery - Dreifuss Muscular Dystrophy 1, X - LinkedEMDBlood with EDTA30 DAYS
Emery - Dreifuss Muscular Dystrophy 6, X - LinkedFHL1 Blood with EDTA40 DAYS
Brown - Vialetto - Van Laere Syndrome 1SLC52A3Blood with EDTA40 DAYS
Spinal Muscular Atrophy Distal TypeIGHMBP2Blood with EDTA30 DAYS
Canavan DiseaseASPABlood with EDTA30 DAYS
Neurofibromatosis, Type 1 MLPA Deletion/Duplication AnalysisNF1Blood with EDTA30 DAYS
Kaufman Oculocerebrofacial SyndromeUBE3BBlood with EDTA40 DAYS
PRRT2 Whole Gene Sequence AnalysisPRRT2Blood with EDTA40 DAYS
Limb - Girdle Muscular Dystrophy, Autosomal Recessive Panel 2CAPNBlood with EDTA40 DAYS
Griscelli Syndrome, Type 2RAB27Blood with EDTA40 DAYS
Rett SyndromeMECP2Blood with EDTA40 DAYS
Brown - Vialetto - Van Laere Syndrome 2SLC52A2Blood with EDTA40 DAYS
Leukoencephalopathy with Vanishing White MatterEIF2B5Blood with EDTA40 DAYS
Insensitivity to Pain, CongenitalNTRK1Blood with EDTA40 DAYS
Myotubular MyopathyMTM1Blood with EDTA40 DAYS
Dystonia - 1, TorsionTOR1ABlood with EDTA40 DAYS
Muscular Dystrophy, Limb - Girdle, FKRP RelatedFKRPBlood with EDTA40 DAYS
Muscular Dystrophy, Limb - Girdle, Type 2GTCAPBlood with EDTA40 DAYS
Muscular Dystrophy, Limb - Girdle, Type 2FSGCDBlood with EDTA40 DAYS
Muscular Dystrophy, Limb - Girdle, Type 2ESGCBBlood with EDTA40 DAYS
Muscular Dystrophy, Limb - Girdle, Type 2DSGCABlood with EDTA40 DAYS
Muscular Dystrophy, Limb - Girdle, Type 1AMYOTBlood with EDTA40 DAYS
Muscular Dystrophy, Limb - Girdle, Type 1BLMNABlood with EDTA40 DAYS
Amyloidosis, Hereditary, Transthyretin RelatedTTRBlood with EDTA40 DAYS
Limb - Girdle Muscular Dystrophy Panel 2CAVBlood with EDTA40 DAYS
Pyridoxamine 5 - Phosphate Oxidase DeficiencyPNPOBlood with EDTA40 DAYS
Lowe SyndromeOCRLBlood with EDTA40 DAYS
Segawa Syndrome THBlood with EDTA40 DAYS
Epileptic Encephalopathy Type 13SCN8ABlood with EDTA40 DAYS
Mowat - Wilson SyndromeZEB2Blood with EDTA40 DAYS
OPA1 Gene AnalysisOPA1Blood with EDTA40 DAYS
Krabbe DiseaseGALCBlood with EDTA40 DAYS
Hyperinsulinemic Hypoglycemia, Familial, 2KCNJ11Blood with EDTA40 DAYS
Alstrom SyndromeALMS1Blood with EDTA40 DAYS
Dystonia Type 4TUBB4ABlood with EDTA40 DAYS
Cornelia de Lange Syndrome 1NIPBLBlood with EDTA41 DAYS
Wolfram Syndrome 1WFS1Blood with EDTA40 DAYS
Myasthenic Syndrome, Congenital, 6CHATBlood with EDTA40 DAYS
Epidermolysis Bullosa Simplex Type 2KRT5 Blood with EDTA40 DAYS
Epilepsy, Progressive Myoclonic 1A (Unverricht and Lundborg)CSTBBlood with EDTA40 DAYS
Rolandic Epilepsy, Mental Retardation, and Speech DyspraxiaSRPX2Blood with EDTA40 DAYS
Speech Language Disorder - 1FOXP2Blood with EDTA40 DAYS
Dystonia 6, TorsionTHAP1Blood with EDTA40 DAYS
Muscular Dystrophy Dystroglycanopathy (Limb - Girdle), Type C, 1POMT1Blood with EDTA40 DAYS
Muscular Dystrophy, Limb - Girdle, Type 2ACAPN3Blood with EDTA40 DAYS
Charcot Marie Tooth PMP22 Sequence AnalysisPMP22Blood with EDTA40 DAYS
GLUT1 Deficiency SyndromeSLC2A1Blood With EDTA40 DAYS
PTEN Mutation ScreeningPTENBlood with EDTA40 DAYS
Myasthenic Syndrome, CongenitalCHRNEBlood with EDTA40 DAYS
Farber DiseaseASAH1Blood with EDTA40 DAYS
Muscular Dystrophy, Limb - Girdle, Type 2CSGCGBlood with EDTA40 DAYS
Myotonia CongenitaCLCN1Blood with EDTA40 DAYS
West SyndromeARX Blood with EDTA40 DAYS
Waardenburg Syndrome, Type 4AEDNRB Blood with EDTA40 DAYS
Tuberous Sclerosis - 2TSC2 Blood with EDTA40 DAYS
Tuberous Sclerosis - 1TSC1Blood with EDTA40 DAYS
TARP SyndromeRBM10 Blood with EDTA40 DAYS
Spinocerebellar Ataxia Type 7ATXN7Blood with EDTA21 DAYS
Spinocerebellar Ataxia Type 6CACNA1ABlood with EDTA21 DAYS
Spinocerebellar Ataxia Type 3 (Machado - Joseph Disease)ATXN3Blood with EDTA21 DAYS
Spinocerebellar Ataxia Type 2ATXN2Blood with EDTA21 DAYS
Spinocerebellar Ataxia Type 1ATXN1Blood with EDTA21 DAYS
Spinocerebellar Ataxia PanelN/ABlood with EDTA21 DAYS
Spinal Muscular Atrophy (SMA) Point Mutation AnalysisSMN1Blood with EDTA40 DAYS
Spinal Muscular Atrophy (SMA) MLPASMN1/ SMN2Blood with EDTA30 DAYS
Spinal Muscular Atrophy (SMA) Deletion AnalysisSMN1Blood with EDTA21 DAYS
Spastic Paraplegia 4, Autosomal DominantSPASTBlood with EDTA40 DAYS
Spastic Paraplegia 3A, Autosomal DominantATL1Blood with EDTA40 DAYS
Microphthalmia, Syndromic 3SOX2Blood with EDTA40 DAYS
Waardenburg SyndromeSOX10 Blood with EDTA40 DAYS
Microphthalmia, Syndromic 2BCORBlood with EDTA40 DAYS
Rubinstein - Taybi Syndrome 1 (Broad Thumb - Hallux Syndrome)CREBBP Blood with EDTA40 DAYS
Rett Syndrome, Congenital VariantFOXG1Blood with EDTA40 DAYS
Rett SyndromeMECP2Blood with EDTA40 DAYS
Epilepsy, Pyridoxine - Dependent (PDE)ALDH7A1 Blood with EDTA40 DAYS
Prader Willi/Angelman Syndrome MLPA15q11-13Blood with EDTA30 DAYS
Pantothenate Kinase - Associated Neurodegeneration (Hallervorden - Spatz Syndrome)PANK2 Blood with EDTA40 DAYS
Pitt - Hopkins SyndromeTCF4 Blood with EDTA40 DAYS
Pyruvate Dehydrogenase E1 - Alpha DeficiencyPDHA1Blood with EDTA40 DAYS
Optic Atrophy 9ACO2 Blood with EDTA40 DAYS
Oculopharyngeal Muscular DystrophyPABPN1 Blood with EDTA40 DAYS
Odontoonychodermal DysplasiaWNT10A Blood with EDTA40 DAYS
Ceroid Lipofuscinosis, Neuronal, 1 (Santavuori - Haltia Disease)PPT1Blood with EDTA40 DAYS
Ceroid Lipofuscinosis, Neuronal, 2 (Jansky Bielschowsky Disease)TPP1Blood with EDTA40 DAYS
Neurofibromatosis, Type 2NF2Blood with EDTA40 DAYS
Neurofibromatosis, Type 1 (Von Recklinghausen Disease)NF1Blood with EDTA40 DAYS
Noonan Syndrome Type 4SOS1Blood with EDTA40 DAYS
Noonan Syndrome Type 1 PTPN11Blood with EDTA40 DAYS
Myopathy, Myofibrillar, 1DES Blood with EDTA40 DAYS
Myopathy, Myosin StorageMYH7Blood with EDTA40 DAYS
Muckle - Wells SyndromeNLRP3 Blood with EDTA40 DAYS
Myotonic Dystrophy 2 (Ricker Syndrome)ZNF9Blood with EDTA21 DAYS
Myotonic Dystrophy Type 1 (Steinert Disease)DMPKBlood with EDTA21 DAYS
Mitochondrial Neurogastrointestinal Encephalopathy (MNGIE) DiseaseTYMP Blood with EDTA40 DAYS
Mitochondrial Deletion PanelMT - DNA Blood with EDTA40 DAYS
Mitochondrial Deletion PanelMT - DNA Blood with EDTA30 DAYS
Mitochondrial Deletion PanelMT - DNA Blood with EDTA30 DAYS
Mitochondrial Recessive Ataxia SyndromePOLGBlood with EDTA40 DAYS
Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke - Like Episodes (MELAS)MT - TL1Blood with EDTA40 DAYS
Muscular Dystrophy, Limb - Girdle, Type 2BDYSF Blood with EDTA40 DAYS
Leigh SyndromeMT-DNA Blood with EDTA40 DAYS
Epilepsy, Progressive Myoclonic 2B (Lafora Disease)NHLRC1Blood with EDTA40 DAYS
Muscular Dystrophy, Congenital, (Partial LAMA2 Deficiency)LAMA2 Blood with EDTA40 DAYS
Congenital Disorder of Glycosylation, Type IaPMM2 Blood with EDTA40 DAYS
Kennedy DiseaseAR Blood with EDTA40 DAYS
Joubert SyndromeNPHP3Blood with EDTA40 DAYS
Joubert Syndrome 1INPP5EBlood with EDTA40 DAYS
Infantile Neuroaxonal Dystrophy 1PLA2G6Blood with EDTA40 DAYS
Huntington DiseaseHTTBlood with EDTA21 DAYS
Focal Dermal Hypoplasia (Goltz Syndrome)PORCNBlood with EDTA40 DAYS
Freidreich Ataxia (FRDA) AnalysisFRDABlood with EDTA21 DAYS
Friedreich Ataxia AnalysisFXN Blood with EDTA40 DAYS
Fragile X SyndromeFMR1Blood with EDTA21 DAYS
Epileptic Encephalopathy, Early Infantile, 2CDKL5Blood with EDTA40 DAYS
Duchenne Muscular Dystrophy Whole Gene Deletion / Carrier AnalysisDMDBlood With EDTA30 DAYS
Duchenne Muscular Dystrophy 21 Exome Deletion AnalysisDMDBlood with EDTA21 DAYS
Duchenne Muscular Dystrophy Whole Gene AnalysisDMD Blood With EDTA40 DAYS
Epileptic Encephalopathy, Early Infantile, 6 (Dravet Syndrome)SCN1A Blood with EDTA40 DAYS
Charcot Marie Tooth MPZ AnalysisMPZ Blood with EDTA40 DAYS
Charcot Marie Tooth MFN2 AnalysisMFN2 Blood with EDTA40 DAYS
Charcot Marie Tooth Disease Deletion Duplication AnalysisMFNBlood with EDTA30 DAYS
Charcot Marie Tooth Disease, Type 1APMP22Blood with EDTA30 DAYS
Charcot Marie Tooth Neuropathy, X - Linked Dominant, 1GJB1Blood with EDTA30 DAYS
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL Syndrome)NOTCH3Blood with EDTA40 DAYS
Ataxia, Early Onset with Oculomotor Apraxia and HypoalbuminemiaAPTXBlood with EDTA40 DAYS
Ataxia TelangiectasiaATMBlood with EDTA40 DAYS
Alexander DiseaseGFAPBlood with EDTA40 DAYS
Myelofibrosis, SomaticCALR Blood with EDTA21 DAYS
Megalencephalic LeukoencephalopathyMLC1Blood with EDTA40 DAYS
Wolf-Hirchhorn Syndorme - 4p16 Deletion WHSC1N/AHeparinized Blood7 DAYS
Williams Syndrome - 7q11.23 DeletionN/AHeparinized Blood / Bone Marrow7 DAYS
DiGeorge Syndrome-1-17 DAYS
Cri du Chat Syndrome-1Heparinized Blood15 DAYS
Angelman Syndrome MLPA15q11-13Blood with EDTA40 DAYS
Kallmann Syndrome (KAL1 gene Deletion Del Xp22.3)KAL1Heparinized Blood7 DAYS
FISH (X, Y)N/AHeparinized Blood7 DAYS
Rapid Aneuploidy Analysis Panel 2 from Amniotic Fluid (FISH/13, 18, 21, X, Y)N/AAmniotic Fluid3 DAYS
Rapid Aneuploidy Analysis Panel 1 from Amniotic Fluid (FISH/13, 18, 21)N/AAmniotic Fluid3 DAYS
Rapid Aneuploidy Analysis Panel from Cord Blood (FISH/13, 18, 21)N/ACord Blood3 DAYS
Rapid Aneuploidy Analysis Panel from Chorionic Villus Material (FISH/13, 18, 21)N/AChorionic Villus3 DAYS
Chromosome Analysis from Skin Biopsy MaterialN/ASkin Biopsy28 DAYS
Chromosome Analysis from Cordosynthesis MaterialN/ACord Blood15 DAYS
Chromosome Analysis from Peripheral BloodN/AHeparinized Blood21 DAYS
Chromosome Analysis from Chorionic VillusN/AChorionic Villus28 DAYS
Chromosome Analysis from Amniotic FluidN/AAmniotic Fluid21 DAYS
Prader Willi/Angelman SyndromeSNRPNHeparinized Blood / Bone Marrow30 DAYS
FISH Analysis for Chromosomal DisordersN/ABone Marrow / Heparinized Blood / Blood with EDTA21 DAYS
1q21 (CKS1B)/ 1p32.3[CDKN2C (P18)]N/AHeparinized Blood / Bone Marrow15 DAYS
11q22.3 DeletionN/AHeparinized Blood7 DAYS
Iron Refractory Iron Deficiency AnemiaTMPRSS6Blood with EDTA30 DAYS
Bernard Soulier SyndromeGP1BBlood with EDTA30 DAYS
Diamond-Blackfan anemia 6RPL5Blood with EDTA30 DAYS
t(6;14)(p21;q32)N/AHeparinized Blood / Bone Marrow21 DAYS
t(14;20)(q32;q12)N/AHeparinized Blood / Bone Marrow15 DAYS
SCE (Sister Chromatid Exchange)N/AHeparinized Blood15 DAYS
Philadelphia Chromosome FISH AnalysisN/AHeparinized Blood / Bone Marrow21 DAYS
Pediatric MDS PanelN/ABone Marrow / Heparinized Blood7 DAYS
Pediatric AML PanelN/ABone Marrow / Heparinized Blood7 DAYS
Pediatric ALL PanelN/ABone Marrow / Heparinized Blood7 DAYS
Non-Hodgkin Lymphome PanelN/ABone Marrow / Heparinized Blood7 DAYS
Monosomy / Trisomy 11N/AHeparinized Blood7 DAYS
MM PanelN/ABone Marrow / Heparinized Blood21 DAYS
MDS PanelN/ABone Marrow / Heparinized Blood7 DAYS
KML PanelN/AHeparinized Blood / Bone Marrow7 DAYS
KLL PanelN/AHeparinized Blood / Bone Marrow7 DAYS
Chromosome Analysis from Bone MarrowN/ABone Marrow21 DAYS
inv (16) Quantitative FISH-1Heparinized Blood21 DAYS
FGFR FISH-1Heparinized Blood / Bone Marrow21 DAYS
DEB Analysis Diepoxybutane Test-1Heparinized Blood / Bone Marrow / Skin Biopsy15 DAYS
AML PanelN/ABone Marrow / Heparinized Blood7 DAYS
ALL PanelN/ABone Marrow / Heparinized Blood7 DAYS
Congenital Dyserythropoietic Anemia Type 1ACDAN1Blood with EDTA30 DAYS
Systemic Lupus Erythematosus TREX1Blood with EDTA40 DAYS
HLA A,B,DR SSP AnalysesN/ABlood with EDTA40 DAYS
HLA B27N/ABlood with EDTA40 DAYS
FMF (Familial Mediterranean Fever) (Exon 1, 4, 6, 7, 8, 9)MEFVBlood with EDTA40 DAYS
FMF (Familial Mediterranean Fever) (Exon 2, 3, 5, 10)MEFVBlood with EDTA40 DAYS
Neutropenia, severe congenital 4G6PC3Blood with EDTA30 DAYS
Congenital Neutropenia PanelHAXBlood with EDTA30 DAYS
Thrombocytopenia 5ETV6Blood with EDTA40 DAYS
Macrothrombocytopenia MYH9Blood with EDTA40 DAYS
Methemoglobinemia, Type ICYB5R3Blood with EDTA40 DAYS
Von Willebrand Disease Whole GeneVWFBlood with EDTA30 DAYS
Bruton AgammaglobulinemiaIBTKBlood with EDTA40 DAYS
Thrombotic Thrombocytopenic PurpuraADAMTS13Blood with EDTA40 DAYS
Hyper - IgE Recurrent Infection SyndromeDOCK8Blood with EDTA40 DAYS
Acute Myeloid Leukemia NPM1 Gene Exon 9NPM1Blood with EDTA40 DAYS
Hyper - IgE Recurrent Infection SyndromeSTAT3Blood with EDTA40 DAYS
Wiskott - Aldrich SyndromeWASBlood with EDTA40 DAYS
Periodic Fever Syndrome (TRAPS)TNFRSF1A Blood with EDTA40 DAYS
Periodic Fever Syndrome (CAPS1)NLRP3Blood with EDTA40 DAYS
Periodic Fever SyndromeSPAG7Blood with EDTA40 DAYS
Afibrinogenemia, Congenital, Gamma (FGG)FGG Blood with EDTA40 DAYS
Afibrinogenemia,Congenital, Beta (FGB)FGB Blood with EDTA40 DAYS
Afibrinogenemia, Congenital, Alpha (FGA)FGA Blood with EDTA40 DAYS
Neutropenia, Severe Congenital 1ELANEBlood with EDTA40 DAYS
Neutropenia, Severe Congenital 3HAX1Blood with EDTA40 DAYS
Angioedema, Hereditary, Type IIIF12 Blood with EDTA40 DAYS
Angioedema, Hereditary, Types I and IISERPING1 Blood with EDTA40 DAYS
Hemolytic Uremic Syndrome, Atypical, Susceptibility to, 1CFH Blood with EDTA40 DAYS
Celiac DiseaseHLA - DBlood with EDTA21 DAYS
Behcet SyndromeHLA - B51Blood with EDTA21 DAYS
7q31 DeletionN/AHeparinized Blood / Bone Marrow15 DAYS
8q24 (MYC) RearrangementsMYCHeparinized Blood / Bone Marrow15 DAYS
4q12 DeletionN/AHeparinized Blood / Bone Marrow15 DAYS
11q23 DeletionN/AHeparinized Blood / Bone Marrow15 DAYS
11q22 DeletionN/AHeparinized Blood / Bone Marrow15 DAYS
13q14.3 Deletion - D13S319 DeletionN/AHeparinized Blood / Bone Marrow15 DAYS
13q34 DeletionN/AHeparinized Blood / Bone Marrow15 DAYS
20q12 DeletionN/AHeparinized Blood / Bone Marrow15 DAYS
17p13.1 Deletion (p53)TP53 Heparinized Blood / Bone Marrow15 DAYS
8p12 Deletion (FGFR1)FGFR1Heparinized Blood / Bone Marrow15 DAYS
5q31 Deletion (EGR1)EGR1Heparinized Blood / Bone Marrow15 DAYS
5q33 Deletion (PDGFRB)PDGFRBHeparinized Blood15 DAYS
Monosomy/Trisomy 4N/AHeparinized Blood / Bone Marrow15 DAYS
Monosomy/Trisomy 10N/AHeparinized Blood / Bone Marrow15 DAYS
Monosomy/Trisomy 12N/AHeparinized Blood / Bone Marrow15 DAYS
Monosomy/Trisomy 5N/AHeparinized Blood / Bone Marrow15 DAYS
Monosomy/Trisomy 8N/AHeparinized Blood / Bone Marrow15 DAYS
Monosomy/Trisomy 7N/AHeparinized Blood / Bone Marrow15 DAYS
t(14;16) (q32;q21)IGH/MALT1Heparinized Blood / Bone Marrow15 DAYS
t(9;11) (p22;q23)KMT2A/MLLT3Heparinized Blood / Bone Marrow15 DAYS
t(4;11) (q21;q23) MLL - AF4 FusionMLL/AF4Heparinized Blood / Bone Marrow15 DAYS
inv(16) (p13;q22)/t(16;16) (p13;q22) CBFB GeneCBFBHeparinized Blood / Bone Marrow15 DAYS
t(8;14) (q24;q32) MYC - IGH FusionMYC - IGHHeparinized Blood / Bone Marrow15 DAYS
t(14;18) (q32;q21) IGH/BCL2 FusionIGH/BCL2Heparinized Blood / Bone Marrow15 DAYS
t(12;21) (p13;q22) ETV6 (TEL)/RUNX1 (AML1) FusionETV6(TEL)/RUNX1(AML1) Heparinized Blood / Bone Marrow15 DAYS
t(4;14) (q16;q32) FGFR3/IGH FusionFGFR3/IGH Heparinized Blood / Bone Marrow15 DAYS
t(1;19) )(q23;p13.3) TCF3/PBX1TCF3/PBX1Heparinized Blood / Bone Marrow15 DAYS
t(11;14) (q13;q32) CCND1/IGH FusionCCND1/IGHHeparinized Blood / Bone Marrow15 DAYS
t(15;17) (q22;q21) PML/RARA FusionPML/RARAHeparinized Blood / Bone Marrow15 DAYS
t(8;21) (q22;q22)ETO/AML1Heparinized Blood / Bone Marrow15 DAYS
t(9;22) (q34;q11.2 ) BCR - ABL FusionBCR/ABLHeparinized Blood / Bone Marrow15 DAYS
Thrombocytopenia, X - LinkedGATA1 Blood with EDTA40 DAYS
t(8;21) Real Time PCRRUNX - AMLBlood with EDTA21 DAYS
t(12;21) TEL/AML1 Real Time PCRTEL/AML1Blood with EDTA21 DAYS
t(1;19) E2A/PBX1 Real Time PCRE2A/PBX1 Blood with EDTA21 DAYS
t (15;17) Real Time PCRPML - RARABlood with EDTA21 DAYS
t(9;22) Real Time PCR (BCR-ABL p210)BCR - ABL P210Blood with EDTA21 DAYS
t(9;22) Real Time PCR (BCR-ABL p190)BCR - ABL P190Blood with EDTA21 DAYS
Inversion 16 Real Time PCRCBFB - MYH11Blood with EDTA21 DAYS
PDGFRA Gene Mutation AnalysisPDGFRB Blood with EDTA / Paraffin Block40 DAYS
Sickle Cell AnemiaHBBBlood with EDTA21 DAYS
Dyserythropoietic Anemia, Congenital, Type IISEC23BBlood with EDTA40 DAYS
Chimerism, Post-TransplantationN/ABlood with EDTA21 DAYS
Chimerism, Pre-Transplantation, DonorN/ABlood with EDTA21 DAYS
Chimerism, Pre-Transplantation, ReceiverN/ABlood with EDTA21 DAYS
Chimerism (FISH)N/AHeparinized Blood7 DAYS
Chimerism (Molecular)N/ABlood with EDTA21 DAYS
JAK 2 Real Time PCRJAK2Blood with EDTA21 DAYS
JAK 2 Gene Mutation Analysis (V617F)JAK2Blood with EDTA21 DAYS
JAK 2 Gene Exon 12 Mutation AnalysesJAK2Blood with EDTA21 DAYS
Hemophagocytic Lymphohistiocytosis, Familial, 5STXBP2Blood with EDTA40 DAYS
Hemophagocytic Lymphohistiocytosis, Familial, 4STX11Blood with EDTA40 DAYS
Hemophagocytic Lymphohistiocytosis, Familial, 3MUN13 (UNC13D) Blood with EDTA40 DAYS
Hemophagocytic Lymphohistiocytosis, Familial, 2PRF1Blood with EDTA40 DAYS
SpherocytosisANK1 Blood with EDTA40 DAYS
Hemophilia BF9 Blood with EDTA40 DAYS
Hemophilia AF8Blood with EDTA40 DAYS
Beta ThalassemiaHBBBlood with EDTA21 DAYS
Amegakaryocytic Thrombocytopenia Common Mutation ScreeningMPL (S505N W515L K39N)Blood with EDTA21 DAYS
Alpha Thalassemia Whole Gene SequencingHBA1/HBA2Blood with EDTA40 DAYS
Alpha Thalassemia Deletion AnalysisHBABlood with EDTA21 DAYS
Leukemia, Acute MyeloidNPM1Blood with EDTA21 DAYS
Leukemia, Acute MyeloidCEBPABlood with EDTA21 DAYS
Periodic Fever Syndrome Panel Group 1MEFVBlood with EDTA40 DAYS
Retinoblastoma RB1Blood with EDTA40 DAYS
Noonan Syndrome Panel PTPN11Blood with EDTA40 DAYS
Microsatellite Instability (MSI)5 MarkerBlood with EDTA40 DAYS
Peutz - Jeghers Syndrome STK11Blood with EDTA40 DAYS
Multiple Endocrine Neoplasia Type 1 MEN1Blood with EDTA40 DAYS
Inherited Breast/Ovarian Cancer PanelPTEBlood with EDTA40 DAYS
HRAS Sequence AnalysisHRASBlood with EDTA40 DAYS
Macroglobulinemia, WaldenstromMYD88Blood with EDTA40 DAYS
Beckwith - Wiedemann SyndromeCDKN1CBlood with EDTA40 DAYS
Colon Cancer PanelKRABlood with EDTA40 DAYS
CLOVE Syndrome, SomaticPIK3CABlood with EDTA40 DAYS
Loeys-Dietz Syndrome 2TGFBR2 Blood with EDTA40 DAYS
BRCA1/BRCA2 MLPABRCA1/BRCA2Blood with EDTA / Paraffin Block21 DAYS
Gorlin - Goltz SyndromeSUFUBlood with EDTA40 DAYS
Peutz - Jeghers Syndrome STK11 MLPASTK11 Blood with EDTA21 DAYS
Retinoblastoma MLPA RB1Blood with EDTA21 DAYS
Lynch Syndrome/Colorectal Cancer, Hereditary Nonpolyposis, Type 5 MSH6 MLPAMSH6Blood with EDTA40 DAYS
Lynch Syndrome/HNPCC Panel 1MLH1/ MSH2Blood With EDTA40 DAYS
Lynch Syndrome (HNPCC) PanelMLHBlood with EDTA40 DAYS
Lynch Syndrome/Colorectal Cancer, Hereditary Nonpolyposis, Type 4 PMS2 MLPAPMS2 Blood with EDTA21 DAYS
PTEN Mutation ScreeningPTENBlood with EDTA40 DAYS
MLH1/MSH2 MLPAMLH1/MSH2 Blood with EDTA21 DAYS
Von Hippel - Lindau Syndrome (VHL)VHL Blood with EDTA40 DAYS
Noonan Syndrome Type 1 PTPN11Blood with EDTA40 DAYS
Multiple Endocrine Neoplasia, Type IVCDKN1B Blood with EDTA40 DAYS
Basal Cell Nevus Syndrome (Gorlin Syndrome)PTCH1 Blood with EDTA40 DAYS
Warfarin Resistance and Warfarin SensitivityVKORCBlood with EDTA30 DAYS
ROS1 Deletion (6q22.1)ROS1Paraffin Block15 DAYS
ALK Deletion (2p23)ALKBone Marrow / Paraffin Block15 DAYS
HER2/NEU (ERBB2) FISHHER2/NEU(ERBB2)Paraffin Block15 DAYS
17p13.1 Deletion (p53)TP53 Heparinized Blood / Bone Marrow15 DAYS
Wilms Tumor, Type 1WT1 Blood with EDTA / Paraffin Block40 DAYS
TPMT Gene Common Mutation AnalysisTPMT (238G>Blood with EDTA40 DAYS
TP53 Gene ScreeningTP53 Blood with EDTA / Paraffin Block40 DAYS
PDGFRA Gene Common Mutation Exon 12.18PDGFRA Blood with EDTA / Paraffin Block40 DAYS
NRAS Gene Mutation PanelNRASBlood with EDTA / Paraffin Block21 DAYS
Myelofibrosis, SomaticCALR Blood with EDTA21 DAYS
Multiple Endocrine Neoplasia IIARETBlood with EDTA40 DAYS
Microsatellite Instability (MSI)5 Marker Paraffin Block21 DAYS
MDR1 Gene Polymorphisms ScreeningMDR1 Blood with EDTA21 DAYS
Lynch Syndrome / Colorectal Cancer, Hereditary Nonpolyposis, Type 4PMS2Blood with EDTA40 DAYS
Lynch Syndrome / Colorectal Cancer, Hereditary Nonpolyposis, Type 3PMS1Blood with EDTA40 DAYS
Lynch Syndrome / Colorectal Cancer, Hereditary Nonpolyposis, Type 5MSH6Blood with EDTA40 DAYS
Lynch Syndrome / Colorectal Cancer, Hereditary Nonpolyposis, Type 2MLH1 Blood with EDTA40 DAYS
Lynch Syndrome / Colorectal Cancer, Hereditary Nonpolyposis, Type 1MSH2 Blood with EDTA40 DAYS
JAK 2 Gene Mutation Analysis (V617F)JAK2Blood with EDTA21 DAYS
JAK 2 Gene Exon 12 Mutation AnalysesJAK2Blood with EDTA21 DAYS
Leukemia, Philadelphia Chromosome - Positive, Resistant to ImatinibABL1Blood with EDTA21 DAYS
FLT3 Gene Mutation AnalysisFLT3 Blood with EDTA21 DAYS
Colorectal Adenomatous PolyposisAPC Blood with EDTA40 DAYS
Colorectal Adenomatous PolyposisMUTYH Blood with EDTA40 DAYS
EGFR Mutation PanelEGFRBlood with EDTA / Paraffin Block21 DAYS
C - KIT Gene Common Mutation Exon 9, 11, 13 and 17C - KIT Bone Marrow / Paraffin Block21 DAYS
BRCA2 Gene MutationBRCA2Blood with EDTA40 DAYS
BRCA1 Gene MutationBRCA1Blood with EDTA40 DAYS
BRCA1/2 Gene Mutation - Breast CancerBRCA1/BRCA2Blood with EDTA40 DAYS
BRCA2 Gene MLPA (Deletion Duplication Analysis)BRCA2Blood with EDTA40 DAYS
BRCA1 Gene MLPA (Deletion Duplication Analysis)BRCA1Blood with EDTA30 DAYS
BRAF Gene Mutation AnalysisBRAFBlood with EDTA / Paraffin Block21 DAYS
KRAS Gene Mutation PanelKRASParaffin Block21 DAYS
Hypercholesterolemia, Familial, 3PCSK9Blood with EDTA40 DAYS
SitosterolemiaABCG5  Blood with EDTA30 DAYS
Pyruvate kinase deficiency PKLRBlood with EDTA30 DAYS
Hyperglycinemia, Lactic Acidosis and SeizuresLIASBlood with EDTA30 DAYS
Lipoprotein A (LPA Exon 21-39) Panel 2 LPABlood with EDTA40 DAYS
Lipoprotein A (LPA Exon 1-20) Panel 1LPABlood with EDTA40 DAYS
CystinuriaSLC3A1Blood with EDTA30 DAYS
Cerebral Creatine Deficiency Syndrome 2GAMTBlood with EDTA30 DAYS
Neurodegeneration due to cerebral folate transport deficiencyFOLR1Blood with EDTA30 DAYS
Transcobalamin II DeficiencyTCN2Blood with EDTA40 DAYS
Short Chain AD DeficiencyACADSBlood with EDTA40 DAYS
FAR1FAR1Blood with EDTA40 DAYS
Galactosemia Type 2 (GALK1 Whole Gene Analysis)GALK1Blood with EDTA40 DAYS
Fructose Intolerance (ALDOB Whole Gene Analysis)ALDOBBlood with EDTA40 DAYS
DARS2 Sequence AnalysisDARS2Blood with EDTA40 DAYS
Glutaric Acidemia Type 2 PanelETFBlood with EDTA40 DAYS
Mukopolipidosis PanelARSBlood with EDTA40 DAYS
Dihydropyrimidine Dehydrogenase DeficiencyDPYDBlood with EDTA40 DAYS
HypertriglyceridemiaAPOA5Blood with EDTA40 DAYS
Hyperlipoproteinemia LPL GeneLPLBlood with EDTA40 DAYS
Glycogen Storage Disease Type 9D (PHKA1 TG)PHKA1Blood with EDTA40 DAYS
Glutaric Acidemia Type 2C (ETFDH Whole Gene Sequence)ETFDHBlood with EDTA40 DAYS
Hemacromatosis PanelHFBlood with EDTA40 DAYS
Glycogen Storage Disease PanelG6PBlood with EDTA40 DAYS
Carnitine Palmitoyltransferase IA DeficiencyCPT1ABlood with EDTA40 DAYS
Hyperinsulinemic Hypoglycemia, Familial, 4HADHBlood with EDTA40 DAYS
Chanarin - Dorfman SyndromeABHD5Blood with EDTA40 DAYS
17 - Beta Hydroxysteroid Dehydrogenase 1 DeficiencyHSD17B1Blood with EDTA40 DAYS
Molybdenum Cofactor Deficiency AMOCS1Blood with EDTA40 DAYS
Obesity, Morbid, Type 2LEPRBlood with EDTA40 DAYS
Obesity, MorbidLEPBlood with EDTA30 DAYS
Thiamine Metabolism Dysfunction Syndrome 2SLC19A3Blood with EDTA30 DAYS
Canavan DiseaseASPABlood with EDTA30 DAYS
FH Gene ScreeningFHBlood with EDTA30 DAYS
Maple Syrup Urine Disease, Type IIDBTBlood with EDTA40 DAYS
Tyrosinemia, Type IFAHBlood with EDTA40 DAYS
Riboflavin Transporter DeficiencySLC52A1Blood with EDTA40 DAYS
Lisosomal Disease PanelARSBlood with EDTA40 DAYS
HomocystinuriaCBSBlood with EDTA40 DAYS
Antley - Bixler SyndromePOR Blood with EDTA40 DAYS
Monocarboxylate Transporter 1 DeficiencySLC16A1Blood with EDTA40 DAYS
Mucopolysaccharidosis Type VI (Maroteaux - Lamy)ARSBBlood with EDTA40 DAYS
Pseudohypoaldosteronism, Type ISCNN1ABlood with EDTA40 DAYS
Glycogen Storage Disease IVGBE1Blood with EDTA40 DAYS
Mucolipidosis III GammaGNPTGBlood with EDTA40 DAYS
Mucopolysaccharidosis Type IIIDGNSBlood with EDTA40 DAYS
Mucopolysaccharidosis VIIGUSBBlood with EDTA40 DAYS
Mucopolysaccharidosis Type IIIC (Sanfilippo C)HGSNATBlood with EDTA40 DAYS
Pyridoxamine 5 - Phosphate Oxidase DeficiencyPNPOBlood with EDTA40 DAYS
Glutaricaciduria, Type IGCDHBlood with EDTA40 DAYS
Niemann - Pick Disease, Type C1NPC1Blood with EDTA40 DAYS
Glycogen Storage Disease Type 5PYGMBlood with EDTA40 DAYS
Obesity, Adrenal InsufficiencyPOMCBlood with EDTA40 DAYS
Glycogen Storage Disease Type 9BPKHBBlood with EDTA41 DAYS
Bloom SyndromeBLMBlood with EDTA40 DAYS
Sandhoff DiseaseHEXBBlood with EDTA40 DAYS
Krabbe DiseaseGALCBlood with EDTA40 DAYS
Glycogen Storage Disease Type 9PHKABlood with EDTA40 DAYS
Berardinelli Syndrome AGPAT2Blood with EDTA40 DAYS
Hyperinsulinemic Hypoglycemia, Familial, 2KCNJ11Blood with EDTA40 DAYS
PhenylketonuriaPAHBlood with EDTA40 DAYS
Alstrom SyndromeALMS1Blood with EDTA40 DAYS
Megdel SyndromeSERAC1Blood with EDTA40 DAYS
Acyl - CoA Dehydrogenase, Medium ChainACADMBlood with EDTA40 DAYS
Glycogen Storage Disease VIPYGLBlood with EDTA40 DAYS
Surfactant Metabolism Dysfunction, Pulmonary, 1SFTPBBlood with EDTA40 DAYS
Nonketotic HyperglycinemiaGLDCBlood with EDTA40 DAYS
Nonketotic Hyperglycinemia AMTBlood with EDTA40 DAYS
GLUT1 Deficiency SyndromeSLC2A1Blood With EDTA40 DAYS
Mucolipidosis II Alpha/BetaGNPTABBlood with EDTA40 DAYS
Farber DiseaseASAH1Blood with EDTA40 DAYS
ArgininemiaARG1Blood with EDTA40 DAYS
Peroxisome Biogenesis Disorder 1A (Zellweger)PEX1 Blood with EDTA40 DAYS
Wilson DiseaseATP7BBlood with EDTA40 DAYS
Tay - Sachs Disease (Hexosaminidase A Deficiency)HEXA Blood with EDTA40 DAYS
Smith Lemli Opitz SyndromeDHCR7 Blood with EDTA40 DAYS
CystinosisCTNS Blood with EDTA40 DAYS
Sialidosis, Type INEU1 Blood with EDTA40 DAYS
Pompe DiseaseGAA Blood with EDTA40 DAYS
Pyruvate Dehydrogenase E1 - Alpha DeficiencyPDHA1Blood with EDTA40 DAYS
Periodic Fever Syndrome (TRAPS)TNFRSF1A Blood with EDTA40 DAYS
Niemann - Pick Disease Type A, Type B (Sphingomyelinase Deficiency) SMPD1 Blood with EDTA40 DAYS
Mucopolysaccharidosis Type IIIB (Sanfilippo B)NAGLUBlood with EDTA40 DAYS
Mucopolysaccharidosis Type IVA (Morquio Syndrome)GALNSBlood with EDTA40 DAYS
Mucopolysaccharidosis Type IIIA (Sanfilippo Syndrome A)SGSH Blood with EDTA40 DAYS
Mucopolysaccharidosis Type II (Hunter Syndrome)IDSBlood with EDTA40 DAYS
Mucopolysaccharidosis Type 1H (Hurler Syndrome)IDUA Blood with EDTA40 DAYS
Methylmalonic Aciduria, MUT (0) TypeMUT Blood with EDTA40 DAYS
Metachromatic LeukodystrophyARSABlood with EDTA40 DAYS
Menkes Disease (Kınky Hair Disease)ATP7ABlood with EDTA40 DAYS
Maple Syrup Urine Disease, Type IbBCKDHBBlood with EDTA40 DAYS
Maple Syrup Urine Disease, Type IaBCKDHA Blood with EDTA40 DAYS
Congenital Disorder of Glycosylation, Type IaPMM2 Blood with EDTA40 DAYS
Carnitine Palmitoyl transferase 2 DeficiencyCPT2 Blood with EDTA40 DAYS
Familial HypertriglyceridemiaLIPI Blood with EDTA40 DAYS
Hyperoxaluria, Primary, Type 1 (Alanine Glyoxylate Aminotransferase Deficiency)AGTX Blood with EDTA40 DAYS
Hyperinsulinemic Hypoglycemia, Familial, 1ABCC8 Blood with EDTA40 DAYS
Hyper - IgD Syndrome (Mevalonate Kinase Deficiency)MVK Blood with EDTA40 DAYS
HemochromatosisHFEBlood with EDTA40 DAYS
Hemochromatosis, Type 3TFR2Blood with EDTA40 DAYS
Glucose - 6 - Phosphate Dehydrogenase DeficiencyG6PD Blood with EDTA40 DAYS
Glucose Galactose MalabsorptionSLC5A1 Blood with EDTA40 DAYS
Glycogen Storage Disease IIIb, IIIa (Cori Disease)AGL Blood with EDTA40 DAYS
Glycogen Storage Disease Type 1a (von Gierke Disease)G6PC Blood with EDTA40 DAYS
Gaucher DiseaseGBABlood with EDTA40 DAYS
GM1 - Gangliosidosis, Type I, Type II, Type III (β - Galactosidase Deficiency)GLB1 Blood with EDTA40 DAYS
Galactosemia (Galactose - 1 Phosphate Uridylyltransferase Deficiency) GALTBlood with EDTA40 DAYS
Friedreich Ataxia AnalysisFXN Blood with EDTA40 DAYS
Fish Eye DiseaseLCAT Blood with EDTA40 DAYS
PhenylketonuriaPAHBlood with EDTA40 DAYS
Fanconi Bickel SyndromeSLC2A2 Blood with EDTA40 DAYS
Fabry DiseaseGLABlood with EDTA40 DAYS
CYP2C19 Polymorphisms ScreeningCYP2C19 Blood with EDTA40 DAYS
Biotinidase DeficiencyBTD Blood with EDTA40 DAYS
APOE GenotypingAPOE (Leu167Del) Blood with EDTA30 DAYS
Hypercholesterolemia, FamilialLDLR Blood with EDTA40 DAYS
Periodic Fever Syndrome Panel Group 1MEFVBlood with EDTA40 DAYS
Non-Invasive Fetal DNA AnalysisN/ACell-Free DNA BCT Blood Tube10 DAYS
BPES DiseaseFOXL2Blood with EDTA40 DAYS
Prenatal Maternal Contamination TestN/ABlood with EDTA40 DAYS
LHCGR GENE POLYMORPHISM SCREENINGLHCGRBlood with EDTA40 DAYS
LH Gene Polymorphism AnalysisLHBBlood with EDTA20 DAYS
Persistent Mullerian Duct SyndromeAMHBlood with EDTA40 DAYS
Protein C DeficiencyPROCBlood with EDTA40 DAYS
Kallmann Syndrome (KAL1 gene Deletion Del Xp22.3)KAL1Heparinized Blood7 DAYS
FISH (X, Y)N/AHeparinized Blood7 DAYS
Rapid Aneuploidy Analysis Panel 2 from Amniotic Fluid (FISH/13, 18, 21, X, Y)N/AAmniotic Fluid3 DAYS
Rapid Aneuploidy Analysis Panel 1 from Amniotic Fluid (FISH/13, 18, 21)N/AAmniotic Fluid3 DAYS
Rapid Aneuploidy Analysis Panel from Cord Blood (FISH/13, 18, 21)N/ACord Blood3 DAYS
Rapid Aneuploidy Analysis Panel from Chorionic Villus Material (FISH/13, 18, 21)N/AChorionic Villus3 DAYS
Chromosome Analysis from Abort MaterialN/AAbort Material28 DAYS
Chromosome Analysis from Cordosynthesis MaterialN/ACord Blood15 DAYS
Chromosome Analysis from Peripheral BloodN/AHeparinized Blood21 DAYS
Chromosome Analysis from Chorionic VillusN/AChorionic Villus28 DAYS
Chromosome Analysis from Amniotic FluidN/AAmniotic Fluid21 DAYS
Thrombophilia Panel (6 Mutations)MTHFBlood with EDTA15 DAYS
Thrombophilia Panel (4 Mutations)MTHFBlood with EDTA15 DAYS
Plasminogen Activator Inhibitor - 1 DeficiencyPAIBlood with EDTA15 DAYS
MTHFR C677T Mutation AnalysisMTHFRBlood with EDTA15 DAYS
MTHFR A1298C Mutation AnalysisMTHFRBlood with EDTA15 DAYS
Hydatidiform Mole, Recurrent, 2KHDC3LBlood with EDTA40 DAYS
Hydatidiform Mole, Recurrent, 1 (Gestational Trophoblastic Disease)NLRP7Blood with EDTA40 DAYS
FSH Receptor Gene Polymorphism AnalysisFSHRBlood with EDTA40 DAYS
FSH Beta Common Mutation Analysis FSHBBlood with EDTA40 DAYS
Thrombophilia, Susceptibility to, due to Factor V LeidenF5Blood with EDTA15 DAYS
Thrombophilia due to Activated Protein C ResistanceF5Blood with EDTA15 DAYS
Thrombophilia due to Factor 2 DefectF2Blood with EDTA15 DAYS
Hydatidiform mole NLRP7 MLPANLRP7Blood with EDTA40 DAYS
Disorder of Sex Development (46XX Male)Panel 1: CYP21ABlood with EDTA30 DAYS
LİM15N/ATesticular Sperm Extraction21 DAYS
Semen Haploidy PanelN/ASeminal Fluid20 DAYS
Sperm DNA Damage Test PanelN/ASeminal Fluid10 DAYS
Post Mayotic Sperm PanelN/ASeminal Fluid15 DAYS
Activated NK TestN/ASpecial Activation Tube20 DAYS
Flow Cytometric KIR AnalysisN/AHeparinized Blood20 DAYS
N - KIR Diagnosis/Follow Up Panel (Flow Cytometric KIR, Activated NK)N/AHeparinized Blood20 DAYS
Sperm DNA Damage Test Tunel FlowN/ASeminal Fluid10 DAYS
Sperm FISH Test (TESE Tissue)N/ATesticular Sperm Extraction15 DAYS
Semen Apoptosis Detection (Annexin)N/ASeminal Fluid2 DAYS
Semen Oxidative Stress Detection (ROS Analysis)N/ASeminal Fluid2 DAYS
Spermatogenesis Marker DetectionN/ASeminal Fluid20 DAYS
HOST (Vitality Test)N/ASeminal Fluid40 DAYS
SpermiogramN/ASeminal Fluid2 DAYS
Sperm FISH TestN/ASeminal Fluid15 DAYS
Sperm DNA Damage TestN/ASeminal Fluid10 DAYS
Y Chromosome Microdeletion ScreeningAZF - Blood with EDTA15 DAYS
SRY AnalysisSRYBlood with EDTA15 DAYS
PLC Zeta Whole Gene Sequence AnalysisPLCZ1Blood with EDTA40 DAYS
Testicular Sperm Extraction Haploidy PanelN/ATesticular Sperm Extraction20 DAYS
Preimplantation Genetic Diagnosis for Single Gene Disorders and HLA TypingN/AEmbryo Biopsy1-7 DAYS
Preimplantation Genetic Diagnosis for HLA Typing N/AEmbryo Biopsy1-7 DAYS
Preimplantation Genetic Diagnosis for Single Gene DisordersN/AEmbryo Biopsy1-7 DAYS
Translocation FISHN/AEmbryo Biopsy1-2 DAYS
Aneuploidy FISH (8 Chromosomes)N/AEmbryo Biopsy1-2 DAYS
Translocation Screening in Embryos with Array CGH N/AEmbryo Biopsy1-2 DAYS
24 Chromosome Screening in Embryos with Array CGH N/AEmbryo Biopsy7 DAYS
Translocation Screening in Embryos with NGS (Next Generation Sequencing)N/AEmbryo Biopsy1-2 DAYS
24 Chromosome Screening in Embryos with NGS (Next Generation Sequencing)N/AEmbryo Biopsy7 DAYS
Hypophosphatemic rickets, X-linked dominantPHEXBlood with EDTA40 DAYS
Osteopetrosis, TNFSF11 (RANK LİGAND)TNFSF11 (RANK LİGAND)Blood with EDTA40 DAYS
Osteopetrosis, TNFRSF11A (RANK)TNFRSF11A (RANK)Blood with EDTA40 DAYS
Osteopetrosis, OSTM1OSTM1Blood with EDTA40 DAYS
EhlerDanlos Syndrome Type 7ACOL1A1Blood with EDTA40 DAYS
Robinow Syndrome (ROR2 MLPA) ROR2Blood with EDTA40 DAYS
Periodic Fever Panel (6 Gene)ELANBlood with EDTA40 DAYS
KRT17 Sequence AnalysisKRT17Blood with EDTA40 DAYS
Cutis Laxa Type1AFBLN5Blood with EDTA40 DAYS
Spondylometaphyseal Displasia Kozlowski TypeTRPV4Blood with EDTA40 DAYS
Tar SyndromeRBM8ABlood with EDTA40 DAYS
NF2 MLPA Deletion/Duplication AnalysesNF2Blood with EDTA40 DAYS
EEC Syndrome 1 TP63Blood with EDTA40 DAYS
Albinism Ocultaneous Type 1TYRBlood with EDTA40 DAYS
Neurofibromatosis Panel NFBlood with EDTA40 DAYS
Ichthyosis with confettiKRT10Blood with EDTA40 DAYS
Fibrodysplasia Ossificans ProgressivaACVR1Blood with EDTA40 DAYS
Dyskeratosis Congenita ( X-linked )DKC1Blood with EDTA40 DAYS
Ectodermal Dysplasia Syndactyly Syndrome 1NECTIN4Blood with EDTA40 DAYS
Epiphyseal Dysplasia, Multiple, 7CANT1Blood with EDTA40 DAYS
Neurofibromatosis, Type 1 MLPA Deletion/Duplication AnalysisNF1Blood with EDTA30 DAYS
Spondyloepiphyseal Dysplasia TardaTRAPPC2Blood with EDTA40 DAYS
Nail - Patella SyndromeLMX1BBlood with EDTA40 DAYS
CINCA SyndromeNLRP3Blood with EDTA40 DAYS
Ichthyosis HistrixKRT1 Blood with EDTA40 DAYS
Craniofrontonasal DysplasiaEFNB1Blood with EDTA40 DAYS
Familial Cold Autoinflammatory Syndrome 2NLRP12Blood with EDTA40 DAYS
Ectodermal Dysplasia 10AEDARBlood with EDTA40 DAYS
Split Hand/Foot Malformation 6WNT10BBlood with EDTA40 DAYS
Osteogenesis Imperfecta, Type VIICRTAPBlood with EDTA40 DAYS
Metaphyseal Chondrodysplasia, Schmid TypeCOL10A1Blood with EDTA40 DAYS
Ichthyosis, CongenitalTGM1Blood with EDTA40 DAYS
Pseudoxanthoma ElasticumABCC6Blood with EDTA40 DAYS
Klippel - Feil Syndrome 1GDF6Blood with EDTA40 DAYS
Ehlers Danlos Syndrome, Musculocontractural Type 1CHST14Blood with EDTA40 DAYS
SHOX Gene Deletion AnalysisSHOX Heparinized Blood7 DAYS
Steroid Sultfatase Deficiency/STS Gene Deletion AnalysisSTSHeparinized Blood7 DAYS
Epidermolysis Bullosa Simplex Type 1KRT14Blood with EDTA40 DAYS
Epidermolysis Bullosa Simplex Type 2KRT5 Blood with EDTA40 DAYS
Ichthyosis, Congenital, Autosomal Recessive 6NIPAL4Blood with EDTA40 DAYS
ABCB6 Sequence AnalysisABCB6Blood with EDTA40 DAYS
Telangiectasia, Hereditary Hemorrhagic, Type 1ENGBlood with EDTA40 DAYS
Waardenburg Syndrome, Type 4AEDNRB Blood with EDTA40 DAYS
Waardenburg Syndrome, Type 1/Type3PAX3Blood with EDTA40 DAYS
Short Stature, Idiopathic Familial/Leri Weill DyschondrosteosisSHOX Blood with EDTA40 DAYS
Rickets, Vitamin D Dependent , Type ICYP27B1Blood with EDTA40 DAYS
Rickets, Vitamin D Resistant, Type IIAVDR Blood with EDTA40 DAYS
Pfeiffer SyndromeFGFR2Blood with EDTA40 DAYS
Osteopetrosis, Autosomal Recessive 1 (Albers - Schonberg Disease)TCIRG1Blood with EDTA40 DAYS
Osteopetrosis, Autosomal Dominant 2/Osteopetrosis, Autosomal Recessive 4CLCN7 Blood with EDTA40 DAYS
Osteogenesis Imperfecta, Type IICOL1A2 Blood with EDTA40 DAYS
Osteogenesis Imperfecta, Type ICOL1A1Blood with EDTA40 DAYS
Odontoonychodermal DysplasiaWNT10A Blood with EDTA40 DAYS
Neurofibromatosis, Type 2NF2Blood with EDTA40 DAYS
Neurofibromatosis, Type 1 (Von Recklinghausen Disease)NF1Blood with EDTA40 DAYS
Netherton SyndromeSPINK5Blood with EDTA40 DAYS
Exostoses, Multiple, Type 1EXT1 Blood with EDTA40 DAYS
Mucopolysaccharidosis Type IIIB (Sanfilippo B)NAGLUBlood with EDTA40 DAYS
Mucopolysaccharidosis Type IVA (Morquio Syndrome)GALNSBlood with EDTA40 DAYS
Mucopolysaccharidosis Type IIIA (Sanfilippo Syndrome A)SGSH Blood with EDTA40 DAYS
Mucopolysaccharidosis Type II (Hunter Syndrome)IDSBlood with EDTA40 DAYS
Mucopolysaccharidosis Type 1H (Hurler Syndrome)IDUA Blood with EDTA40 DAYS
Muckle - Wells SyndromeNLRP3 Blood with EDTA40 DAYS
Loeys - Dietz Syndrome 2 (Marfan Syndrome Type 2)TGFBR2 Blood with EDTA40 DAYS
Marfan SyndromeFBN1Blood with EDTA40 DAYS
Spondylocostal Dysostosis 1 (Jarcho - Levin Syndrome)DLL3 Blood with EDTA40 DAYS
Ichthyosis, CongenitalALOXE3 Blood with EDTA40 DAYS
HypochondroplasiaFGFR3Blood with EDTA21 DAYS
Ectodermal Dysplasia 1, Hypohidrotic, X - Linked (Christ Siemens Tourine Syndrome)EDA Blood with EDTA40 DAYS
HypophosphatasiaALPL Blood with EDTA40 DAYS
Basal Cell Nevus Syndrome (Gorlin Syndrome)PTCH1 Blood with EDTA40 DAYS
Focal Dermal Hypoplasia (Goltz Syndrome)PORCNBlood with EDTA40 DAYS
FGFR3 Whole Gene AnalysisFGFR3 Blood with EDTA40 DAYS
Ehlers Danlos Syndrome, Arthrochalasia Type, 2 COL1A2Blood with EDTA40 DAYS
Ehlers Danlos Syndrome, Kyphoscoliotic Type, 1PLOD1 Blood with EDTA40 DAYS
Ehlers Danlos Syndrome, Vascular TypeCOL3A1 Blood with EDTA40 DAYS
Ehlers Danlos Syndrome, Classic Like, 1TNXB Blood with EDTA40 DAYS
Ehlers Danlos Syndrome, Classic Type, 1COL5A1 Blood with EDTA40 DAYS
Crouzon Syndrome with Acanthosis NigricansFGFR3Blood with EDTA40 DAYS
Arthrogryposis Multiplex Congenita Type 1TPM2Blood with EDTA40 DAYS
Arthrogryposis, Renal Dysfunction and Cholestasis 2 SyndromeVIPAS39Blood with EDTA40 DAYS
Arthrogryposis, Renal Dysfunction and Cholestasis 1 SyndromeVPS33B Blood with EDTA40 DAYS
Apert SyndromeFGFR2Blood with EDTA40 DAYS
AchondroplasiaFGFR3Blood with EDTA21 DAYS
Ichthyosis, Congenital, Autosomal Recessive 2ALOX12B Blood with EDTA40 DAYS
Hypophosphatemic rickets, X-linked dominantPHEXBlood with EDTA40 DAYS
Growth Hormone Deficiency Panel (3 Gene)POU1FBlood with EDTA40 DAYS
Nephrotic Syndrome, Congenital (Fin Type)NPHS1Blood with EDTA40 DAYS
Bardet - Biedl Syndrome Type 17LZTFL1 Blood with EDTA40 DAYS
Pseudohypoaldosteronism Type 1SCNN1BBlood with EDTA40 DAYS
Pseudohypoaldosteronism Type 1SCNN1GBlood with EDTA40 DAYS
Thyroid Hormone Resistance/Refetoff Syndrome THRB GeneTHRBBlood with EDTA40 DAYS
Multiple Endocrine Neoplasia Type 1 MEN1Blood with EDTA40 DAYS
Hemacromatosis PanelHFBlood with EDTA40 DAYS
LHCGR GENE POLYMORPHISM SCREENINGLHCGRBlood with EDTA40 DAYS
17 - Beta Hydroxysteroid Dehydrogenase 3 DeficiencyHSD17B3Blood with EDTA40 DAYS
Obesity, Morbid, Type 2LEPRBlood with EDTA40 DAYS
Obesity, MorbidLEPBlood with EDTA30 DAYS
Laron DwarfismGHRBlood with EDTA30 DAYS
Autoimmune Polyendocrinopathy Syndrome , Type IAIREBlood with EDTA40 DAYS
Bilateral Macronodular Adrenal HyperplasiaARMC5Blood with EDTA40 DAYS
Antley - Bixler SyndromePOR Blood with EDTA40 DAYS
Monocarboxylate Transporter 1 DeficiencySLC16A1Blood with EDTA40 DAYS
Pseudohypoaldosteronism, Type ISCNN1ABlood with EDTA40 DAYS
Aromatase DeficiencyCYP19A1Blood with EDTA40 DAYS
Hemolytic Uremic Syndrome, Atypical, Susceptibility to, 2CD46Blood with EDTA40 DAYS
Neonatal DiabetesYIPF5Blood with EDTA40 DAYS
Donohue Syndrome INSRBlood with EDTA40 DAYS
Pituitary AdenomaAIPBlood with EDTA40 DAYS
Hyperinsulinism - Hyperammonemia SyndromeGLUD1Blood with EDTA40 DAYS
Pancreatitis, HereditaryPRSS2Blood with EDTA40 DAYS
Pancreatitis, Chronic CTRCBlood with EDTA40 DAYS
Persistent Mullerian Duct SyndromeAMHBlood with EDTA40 DAYS
Thrombotic Thrombocytopenic PurpuraADAMTS13Blood with EDTA40 DAYS
TSH Receptor (TSHR) Gene Polymorphism AnalysisTSHRBlood with EDTA40 DAYS
Obesity, Adrenal InsufficiencyPOMCBlood with EDTA40 DAYS
Nephrotic Syndrome, Type 2NPHS2Blood with EDTA40 DAYS
17 - Alpha Hydroxylase/17,20 - Lyase DeficiencyCYP17A1Blood with EDTA40 DAYS
Hyperinsulinemic Hypoglycemia, Familial, 2KCNJ11Blood with EDTA40 DAYS
Pituitary Hormone Deficiency, Combined, 1POU1F1Blood with EDTA40 DAYS
Aldosterone Synthase DeficiencyCYP11B2Blood with EDTA40 DAYS
Kallmann Syndrome (KAL1 gene Deletion Del Xp22.3)KAL1Heparinized Blood7 DAYS
Adrenal Hyperplasia, Congenital, due to 3 - Beta Hydroxysteroid Dehydrogenase 2 DeficiencyHSD3B2 Blood with EDTA40 DAYS
Hereditary Hypophosphatemic RicketsFGF23Blood with EDTA40 DAYS
Polycystic Kidney Disease (AD) PanelPKDBlood with EDTA40 DAYS
Campomelic DysplasiaSOX9Blood with EDTA40 DAYS
Russel - Silver Syndrome11P15Blood with EDTA30 DAYS
Renal GlucosuriaSLC5A2 Blood with EDTA40 DAYS
Cholestasis, Progressive Familial Intrahepatic 3ABCB4Blood with EDTA40 DAYS
Cholestasis, Progressive Familial Intrahepatic 2ABCB11Blood with EDTA40 DAYS
Cholestasis, Progressive Familial Intrahepatic 1 (PFIC) (Byler Disease)ATP8B1Blood with EDTA40 DAYS
Polycystic Kidney and Hepatic DiseasePKHD1 Blood with EDTA40 DAYS
Polycystic Kidney Disease, Adult Type IPKD1 Blood with EDTA40 DAYS
Polycystic Kidney Disease 2, AdultPKD2Blood with EDTA40 DAYS
MODY, Type XI (Maturity - Onset Diabetes of the Young, Type 11) BLKBlood with EDTA40 DAYS
MODY, Type X (Maturity - Onset Diabetes of the Young, Type 10) INSBlood with EDTA40 DAYS
MODY, Type IX (Maturity - Onset Diabetes of the Young, Type 9) PAX4 Blood with EDTA40 DAYS
MODY, Type VIII (Maturity - Onset Diabetes of the Young, Type 8) (Diabetes-Pancreatic Exocrine Dysfunction Syndrome)CEL Blood with EDTA40 DAYS
MODY, Type VII (Maturity - Onset Diabetes of the Young, Type 7)KLF11Blood with EDTA40 DAYS
MODY, Type VI (Maturity - Onset Diabetes of the Young, Type 6)NEUROD1 Blood with EDTA40 DAYS
MODY, Type V (Maturity - Onset Diabetes of the Young, Type 5) (Renal Cysts and Diabetes Syndrome)HNF1B Blood with EDTA40 DAYS
MODY, Type IV (Maturity - Onset Diabetes of the Young, Type 4)PDX1 Blood with EDTA40 DAYS
MODY, Type III (Maturity - Onset Diabetes of the Young, Type 3)HNF1ABlood with EDTA40 DAYS
MODY, Type II (Maturity - Onset Diabetes of the Young, Type 2)GCKBlood with EDTA40 DAYS
MODY, Type I (Maturity - Onset Diabetes of the Young, Type 1)HNF4A Blood with EDTA40 DAYS
MODY Panel 4ABCCBlood with EDTA40 DAYS
MODY Panel 3BLBlood with EDTA40 DAYS
MODY Panel 2HNF1Blood with EDTA40 DAYS
MODY Panel 1HNF4Blood with EDTA40 DAYS
Multiple Endocrine Neoplasia, Type IVCDKN1B Blood with EDTA40 DAYS
McCune - Albright Syndrome, Somatic, MosaicGNASBlood with EDTA40 DAYS
Liddle SyndromeSCNN1BBlood with EDTA40 DAYS
Liddle SyndromeSCNN1GBlood with EDTA40 DAYS
Adrenal Hyperplasia, Congenital, (11 - Beta - Hydroxylase Deficiency)CYP11B1Blood with EDTA40 DAYS
Adrenal Hyperplasia, Congenital, (21 - Hydroxylase Deficiency) MLPACYP21A2Blood with EDTA30 DAYS
Adrenal Hyperplasia, Congenital, (21 - Hydroxylase Deficiency)CYP21A2Blood with EDTA40 DAYS
Adrenal Hyperplasia, Congenital, (17 - Alpha - Hydroxylase/17,20 - Lyase Deficiency)CYP17A1Blood with EDTA40 DAYS
Pancreatitis, Hereditary, ChronicSPINK1 Blood with EDTA40 DAYS
Pancreatitis, HereditaryPRSS1 Blood with EDTA40 DAYS
HypothyroidismIGSF1Blood with EDTA40 DAYS
HypophosphatasiaALPL Blood with EDTA40 DAYS
Hyperinsulinemic Hypoglycemia, Familial, 1ABCC8 Blood with EDTA40 DAYS
Hemolytic Uremic Syndrome, Atypical, Susceptibility to, 1CFH Blood with EDTA40 DAYS
Gilbert SyndromeUGT1A1Blood with EDTA40 DAYS
Growth Hormone Deficiency, Type IAGH1Blood with EDTA40 DAYS
Crigler - Najjar Syndrome, Type IIUGT1A1 Blood with EDTA40 DAYS
Calcium Sensing Receptor Mutation CASR Blood with EDTA40 DAYS
Bartter Syndrome Type 1SLC12A1Blood with EDTA40 DAYS
Androgen Receptor PolymorphismARBlood with EDTA40 DAYS
Alagille Syndrome 2NOTCH2Blood with EDTA40 DAYS
Alagille Syndrome 1JAG1Blood with EDTA40 DAYS
Hypercalciuric Hypercalcemia, FamilialCASRBlood with EDTA40 DAYS
5-Alpha-Reductase DeficiencySRD5A2Blood with EDTA40 DAYS
Roberts SyndromeESCO2Blood with EDTA30 DAYS
Wolf-Hirchhorn Syndorme - 4p16 Deletion WHSC1N/AHeparinized Blood7 DAYS
Williams Syndrome - 7q11.23 DeletionN/AHeparinized Blood / Bone Marrow7 DAYS
Sotos Syndrome Del 5q35 (NSD 1 Deletion)NSD1Heparinized Blood7 DAYS
Hay Wells SyndromeTP63Blood with EDTA40 DAYS
Cri du Chat Syndrome-1Heparinized Blood15 DAYS
Charge SyndromeCHD7Heparinized Blood40 DAYS
Alport Syndrome COL4A5COL4A5Blood with EDTA40 DAYS
Alport Syndrome COL4A4COL4A4Blood with EDTA40 DAYS
Alport Syndrome COL4A3COL4A3Blood with EDTA40 DAYS
Barth syndromeTAZBlood with EDTA30 DAYS
Trichorinophalangeal Syndrome Type 1TRPS1Blood with EDTA40 DAYS
Sotos SyndromeNSD1Blood with EDTA40 DAYS
Robinow Syndrome (ROR2 MLPA) ROR2Blood with EDTA40 DAYS
Noonan Syndrome Panel PTPN11Blood with EDTA40 DAYS
Coffin Lowry SyndromeRPS6KA3 Blood with EDTA40 DAYS
Bardet - Biedl Syndrome Type 17LZTFL1 Blood with EDTA40 DAYS
Tar SyndromeRBM8ABlood with EDTA40 DAYS
Ochoa SyndromeHPSE2Blood with EDTA40 DAYS
NOG Whole Gene Sequence AnalysisNOGBlood with EDTA40 DAYS
Angelman Syndrome MLPA15q11-13Blood with EDTA40 DAYS
Simpson - Golabi- Behmel Syndrome GPC3Blood with EDTA40 DAYS
3-M Syndrome CUL7CUL7Blood with EDTA40 DAYS
Treacher Collins Syndrome Panel TCOF1Blood with EDTA40 DAYS
Birt - Hogg - Dube SyndromeFLCNBlood with EDTA40 DAYS
Ellis - Van Creveld SyndromeEVCBlood with EDTA40 DAYS
Deafness, Digenic GJB2/GJB6GJB6Blood with EDTA40 DAYS
Hermansky - Pudlak Syndrome 1HPS1Blood with EDTA40 DAYS
Townes - Brocks Syndrome 1SALL1Blood with EDTA30 DAYS
Opitz GBBB Syndrome, Type IISPECC1LBlood with EDTA30 DAYS
Opitz GBBB Syndrome, Type IMID1Blood with EDTA30 DAYS
Branchiooculofacial SyndromeTFAP2A Blood with EDTA40 DAYS
Kaufman Oculocerebrofacial SyndromeUBE3BBlood with EDTA40 DAYS
Griscelli Syndrome, Type 2RAB27Blood with EDTA40 DAYS
Treacher Collins Syndrome 3POLR1CBlood with EDTA40 DAYS
Treacher Collins Syndrome 2POLR1DBlood With EDTA40 DAYS
Axenfeld - Rieger Syndrome, Type 3 FOXC1Blood with EDTA40 DAYS
Tooth AgenesisPAX9Blood with EDTA40 DAYS
Craniofrontonasal DysplasiaEFNB1Blood with EDTA40 DAYS
Pendred SyndromeSLC26A4Blood with EDTA40 DAYS
Polydactyly, Postaxial, Types A1 and BGLI3 Blood with EDTA40 DAYS
Axenfeld - Rieger SyndromePITX2Blood with EDTA40 DAYS
Beckwith - Wiedemann SyndromeCDKN1CBlood with EDTA40 DAYS
Mowat - Wilson SyndromeZEB2Blood with EDTA40 DAYS
Ectodermal Dysplasia 10AEDARBlood with EDTA40 DAYS
Split Hand/Foot Malformation 6WNT10BBlood with EDTA40 DAYS
Robinow SyndromeROR2Blood with EDTA40 DAYS
Berardinelli Syndrome AGPAT2Blood with EDTA40 DAYS
Klippel - Feil Syndrome 1GDF6Blood with EDTA40 DAYS
PEHO SyndromeZNHIT3Blood with EDTA40 DAYS
CODAS SyndromeLONP1Blood with EDTA40 DAYS
Auriculocondylar Syndrome 1GNAI3Blood with EDTA40 DAYS
Coffin-Siris Syndrome 1ARID1B Blood with EDTA40 DAYS
Cornelia de Lange Syndrome 1NIPBLBlood with EDTA41 DAYS
Holt - Oram SyndromeTBX5Blood with EDTA40 DAYS
ABCB6 Sequence AnalysisABCB6Blood with EDTA40 DAYS
Telangiectasia, Hereditary Hemorrhagic, Type 1ENGBlood with EDTA40 DAYS
Floating - Harbor SyndromeSRCAPBlood with EDTA40 DAYS
Carpenter SyndromeRAB23Blood with EDTA40 DAYS
Gorlin - Goltz SyndromeSUFUBlood with EDTA40 DAYS
COL2A1 Sequence AnalysisCOL2A1Blood with EDTA20 DAYS
Peutz - Jeghers Syndrome STK11 MLPASTK11 Blood with EDTA21 DAYS
Bardet Biedl Syndrome PanelBBS1Blood with EDTA40 DAYS
Acromesomelic Dysplasia, Maroteaux TypeNPR2 Blood with EDTA40 DAYS
PTEN Mutation ScreeningPTENBlood with EDTA40 DAYS
Fuhrmann SyndromeWNT7ABlood with EDTA40 DAYS
Visceral MyopathyACTG2Blood with EDTA40 DAYS
Multiple Endocrine Neoplasia IIARETBlood with EDTA40 DAYS
Weill - Marchesani Syndrome 1 (WMS)ADAMTS10 Blood with EDTA40 DAYS
Waardenburg Syndrome, Type 4AEDNRB Blood with EDTA40 DAYS
Waardenburg Syndrome, Type 1/Type3PAX3Blood with EDTA40 DAYS
Treacher Collins Syndrome 1TCOF1 Blood with EDTA40 DAYS
Waardenburg SyndromeSOX10 Blood with EDTA40 DAYS
Seckel Syndrome 1 (Bird - Headed Dwarfism )ATR Blood with EDTA40 DAYS
Rubinstein - Taybi Syndrome 1 (Broad Thumb - Hallux Syndrome)CREBBP Blood with EDTA40 DAYS
PseudoachondroplasiaCOMPBlood with EDTA40 DAYS
Prader Willi/Angelman Syndrome MLPA15q11-13Blood with EDTA30 DAYS
Noonan Syndrome Type 4SOS1Blood with EDTA40 DAYS
Noonan Syndrome Type 1 PTPN11Blood with EDTA40 DAYS
Molecular Karyotyping (Whole Genome Deletion/Duplication Analysis)N/ABlood with EDTA30 DAYS
Loeys - Dietz Syndrome Type 1TGFBR1Blood with EDTA40 DAYS
Trichorhinophalangeal Syndrome, Type I (Langer Giedion Syndrome)TRPS1 Blood with EDTA40 DAYS
Joubert SyndromeNPHP3Blood with EDTA40 DAYS
Joubert Syndrome 1INPP5EBlood with EDTA40 DAYS
Cockayne Syndrome, Type AERCC8 Blood with EDTA40 DAYS
Beckwith - Wiedemann Syndrome11p15Blood with EDTA30 DAYS
Bardet Biedl Syndrome 2BBS2Blood with EDTA40 DAYS
Bardet Biedl Syndrome 10BBS10Blood with EDTA40 DAYS
Bardet Biedl Syndrome 1BBS1Blood with EDTA40 DAYS
Prader Willi/Angelman SyndromeSNRPNHeparinized Blood / Bone Marrow30 DAYS
Sibling TestN/ABlood with EDTA20 DAYS
Maternity TestN/ABlood with EDTA20 DAYS
Renal Osteodystrophy PanelBGLABlood with EDTA30 DAYS
Whole Exome Sequencing (WES) Gold Trio + Mitochondrial ScreeningN/ABlood with EDTA60 DAYS
Whole Exome Sequencing (WES) Gold Solo + Mitochondrial ScreeningN/ABlood with EDTA60 DAYS
Inherited Diseases Panel570 GeneBlood with EDTA40 DAYS
DNA Isolation (Storage)-1-1X
DiGeorge Syndrome-1-17 DAYS
Inherited Diseases Panel164 Gene-1-1
Atypical Hemolytic-Uremic SyndromePanel 1: CFH2 Panel 2: CFBlood with EDTA30 DAYS
Central Hypoventilation SyndromePHOX2BBlood with EDTA30 DAYS
Periodic Fever Panel (6 Gene)ELANBlood with EDTA40 DAYS
Nephrotic Syndrome, Congenital (Fin Type)NPHS1Blood with EDTA40 DAYS
Prenatal Known MutationN/ABlood with EDTA40 DAYS
KCNJ2 Sequence AnalysisKCNJ2Blood with EDTA40 DAYS
Prenatal Known Mutation 1 - 3N/ABlood with EDTA40 DAYS
Non-Syndrome Hearing Loss (GJB6)GJB6Blood with EDTA40 DAYS
Congenital Deafness (GJB2 Whole Gene Analysis)GJB2Blood with EDTA40 DAYS
Hemolytic Uremic Syndrome - AHUS3 - CFI Factor-IAHUS3 - CFIBlood with EDTA40 DAYS
?N/ABlood with EDTA40 DAYS
DNA Isolation (Storage)N/ABlood with EDTA40 DAYS
FMF (Familial Mediterranean Fever) (Exon 1, 4, 6, 7, 8, 9)MEFVBlood with EDTA40 DAYS
Congenital Deafness (Convergine 26 Whole Gene)GJB2Blood with EDTA40 DAYS
FMF (Familial Mediterranean Fever) (Exon 2, 3, 5, 10)MEFVBlood with EDTA40 DAYS
Alpha-1 Antitrypsin Deficiency Common MutationSERPINA1Blood with EDTA40 DAYS
CX3CR1 Dizi AnaliziCX3CR1Blood with EDTA40 DAYS
Van Der Knaap Disease MLC3 Type MYL1MYL1 (MLC2)Blood with EDTA40 DAYS
Van Der Knaap Disease MLC2 Type MYL9MYL9 (MLC2)Blood with EDTA40 DAYS
Clinical Exome Sequencing (4813 Genes)4813 GenesBlood with EDTA40 DAYS
Polycystic Kidney Disease PanelPKDBlood with EDTA40 DAYS
Hypercholanemia, FamilialTJP2Blood with EDTA30 DAYS
Whole Exome Sequencing Platinium SoloN/ABlood with EDTA90 DAYS
SLC15A3 Gene ScreeningSLC15A3Blood with EDTA30 DAYS
Cardiomyopathy, Hypertrophic, 7TNNI3Blood with EDTA40 DAYS
Hemolytic Uremic Syndrome, Atypical, Susceptibility to, 2CD46Blood with EDTA40 DAYS
Deafness, Digenic, GJB2/GJB3GJB3Blood with EDTA40 DAYS
Nephronophthisis 1NPHP1Blood with EDTA40 DAYS
Nephrotic Syndrome, Type 2NPHS2Blood with EDTA40 DAYS
Branchiootic Syndrome 1EYA1Blood with EDTA40 DAYS
Inherited Disease Panel (297 Genes)297 GenesBlood with EDTA40 DAYS
Subtelomeric FISH/Subtelomeric Deletion ScreeningN/AHeparinized Blood15 DAYS
Chromosome Analysis from Skin Biopsy MaterialN/ASkin Biopsy28 DAYS
Chromosome Analysis from Peripheral BloodN/AHeparinized Blood21 DAYS
Polycystic Kidney Disease (AD) PanelPKDBlood with EDTA40 DAYS
Whole Genome Sequencing (WES) TrioN/ABlood with EDTA60 DAYS
Whole Genome Sequencing (WES) SoloN/ABlood with EDTA60 DAYS
Whole Exome Sequencing (WES) TrioN/ABlood with EDTA60 DAYS
Whole Exome Sequencing (WES) SoloN/ABlood with EDTA60 DAYS
Renal Tubular Acidosis with DeafnessATP6V1B1Blood with EDTA40 DAYS
Renal Tubular Acidosis, Distal, Autosomal RecessiveATP6V0A4 Blood with EDTA40 DAYS
Osteopetrosis, Autosomal Recessive 3, with Renal Tubular AcidosisCA2Blood with EDTA40 DAYS
Renal GlucosuriaSLC5A2 Blood with EDTA40 DAYS
Chromosome Analysis with QF - PCR20 MarkerChorionic Villus5 DAYS
Cholestasis, Progressive Familial Intrahepatic 3ABCB4Blood with EDTA40 DAYS
Cholestasis, Progressive Familial Intrahepatic 2ABCB11Blood with EDTA40 DAYS
Cholestasis, Progressive Familial Intrahepatic 1 (PFIC) (Byler Disease)ATP8B1Blood with EDTA40 DAYS
Polycystic Kidney and Hepatic DiseasePKHD1 Blood with EDTA40 DAYS
Polycystic Kidney Disease, Adult Type IPKD1 Blood with EDTA40 DAYS
Polycystic Kidney Disease 2, AdultPKD2Blood with EDTA40 DAYS
Congenital DeafnessGJB2Blood with EDTA40 DAYS
Cystic Fibrosis MLPACFTR Blood with EDTA30 DAYS
Cystic Fibrosis Whole Gene AnalysisCFTR Blood with EDTA40 DAYS
Cardiovascular Risk Panel (6 Mutation)N/ABlood with EDTA21 DAYS
Cardiovascular Risk Panel (12 Mutation)N/ABlood with EDTA21 DAYS
Ciliary Dyskinesia, Primary, 7DNAH11Blood with EDTA40 DAYS
Ciliary Dyskinesia, Primary, 3DNAH5 Blood with EDTA40 DAYS
Gilbert SyndromeUGT1A1Blood with EDTA40 DAYS
Familial Mediterranean FeverMEFVBlood with EDTA30 DAYS
DNA FingerprintingN/ABlood with EDTA21 DAYS
Diarrhea 1, Secretory Chloride, CongenitalSLC26A3Blood with EDTA40 DAYS
Central Hypoventilation Syndrome, CongenitalASCL1 Blood with EDTA40 DAYS
Alpha-1 Antitrypsin DeficiencySERPINA1Blood with EDTA40 DAYS
Paternity TestN/ABlood with EDTA / Mucosa / Amniotic Fluid20 DAYS
Whole Exome Sequencing (WES), Additional Family MemberN/ABlood with EDTA60 DAYS
?N/ABlood with EDTA40 DAYS
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