Select Test HLA hypersensitivity (B*15;02) to Carbamazepine & Phenytoin CMV Quantitative CMV DNA Qualitative HLA DSA (Donor Specific IgG Antibodies), Class I & II (for 1 patient & 1 donor) If there is extra donor than the seperate accessioning will be done and than will be again Rs 12499, total amount is 24999 EBV IgG antibody to Viral capcid antigen(VCA) EBV IgM antibody to Viral capsid antigen(VCA) P-ANCA Specific C-ANCA Specific HLA - B5 (B*51/52) EBV (DAKO) Epstein-Barr Virus (EBV) DNA Quantitative Everolimus Cytomegalo Virus (CMV) - IgG C3&C4 Complement panel Cytomegalovirus (CMV) Antibodies Panel, IgG & IgM C4 Complement HLA A B C DR DQ (Low resolution) HLA A B DR Typing (Low resolution) HLA Typing Advance (A,B,C,DR,DQ)- Donor Only DR/DQ Patient only, HLA typing ( High Resolution) C1 Esterase Inhibitor, C1 Inhibitor, Quantitative Phospholipase A2 Receptor Antibody (PLA2R) Qualitative Prader- Wili Syndrome NMO with MOG profile Antibody SHBG Multiple Sclerosis Panel- Comprehensive (Albumin-CSF & Serum, IgG-CSF & Serum, Oligoclonal Band, CSF Index and MAG Antibody) DMD Duchenne Muscular Dystrophy Immunohistochemistry, ACTH IMD Panel, Quantitative, Blood Scl-70 (Scleroderma) Antibody Wilson Disease - ATP7B Gene Sequencing Gene analysis TSC1 & TSC2 Skeletal Dysplasia FBN1 Gene Sequencing & Del/Dup B-Cell Specific Activator Protein (PAX-5) WT1 (WILMS TUMOR) Vimentin (EP21 Rabbit Monoclonal) NSE Clinical Exome Sequencing Panel Angiotensin Converting Enzyme (ACE) HLA - B27, Qualitative Galactomannan (Aspergillus antigen) Anti - dsDNA Antibody NT-PRO BNP Anti Cyclic Citrullinated Peptide; ANTI CCP IGF - I & Growth hormone Panel B-Type Natruiretic peptide (BNP) Sanger mutation confirmation upto 2 mutations RNA Polymerase III Antibody Hereditary Hemochromatosis DNA Mutation analysis LHON Mitochondrial Mutation Detection ADAMTS 13 activity with reflex to inhibitor MYD88, Mutation Analysis HDV RNA Detection Spinal Muscular Atrophy Microdeletion- SMN1 pulmoCORE 5 Gene Panel EGFR, BRAF, c-MET, ALK & ROS1 Any 1 IHC marker ALK IHC + ROS1 IHC Mammaprint Mammaprint + Genetic Counselling EGFR+ ALK+ ROS-1+ MET+ BRAF+ AlK IHC Reflex JEV-Japanese Encephalitis Virus Myasthenia Gravis Profile (AChR, ASKA, MUSK) Paraneoplastic Disorder- PNMA2 Antibody MuSK (Muscle Specific Kinase) Antibody NMDA Receptor antibody Autoimmune encephalitis panel-1 Acetylcholine Receptor (ACHR) Binding Antibody Ganglioside Gq1b Antibody,IgG Congenital Muscular Dystrophy Panel Neurofibromatosis- NF1 & NF2 Extractable Nuclear Antigens (ENA), Qualitative Profile Anti-Smooth Muscle Antibody (ASMA) Neuronal (Paraneoplastic) Autoantibodies Profile SOX 11 SMA Glutamic Acid Decarboxylase (GAD) IgG Antibodies ASCA (Anti Saccharomyces Cerevisiae Antibody), IgA & IgG Panel Histopathology, Kidney Biopsy Panel (LM+IF) HISTOPATHOLOGY, TRANSPLANT KIDNEY BIOPSY PANEL (LM+IF) Histopathology, Native Kidney Biopsy Panel (LM+IF+TEM) Histopathology, Kidney Biopsy (LM) Histopathology, Direct Immunofluorescence (DIF), Kidney Biopsy Histopathology, Transplant Kidney Biopsy Panel (LM+IF+TEM) HISTOPATHOLOGY, KIDNEY BIOPSY SECOND OPINION COREprime (LM) Transmission Electron Microscopy (TEM) nephroCORE HLA high resolution (A,B,C,DR,DQ) Cyclosporine, C0 Histopathology, direct immunofluoroscence DIF, Conjunctival biopsy panel: C3, C1q, IgA, IgG, IgM Skin Biopsy, Direct Immuno-Fluoroscence (DIF) Bone marrow Biopsy IgG4, IHC with Interpretation BCL6 CD2 (EP222 Rabbit Monoclonal) MUM 1 CD10 SAT B2 (EP281 Rabbit Monoclonal) DOG-1 CD8A Histopathology, Biopsy, Small Specimen CORExpert Panel Thrombophilia Profile (Protein C, Functional *Protein S, Functional *Antithrombin Activity Functional *Factor V Leiden Mutation *Prothrombin Gene Mutation *MTHFR gene mutation) ALPHA THALASSEMIA MUTATION DETECTION Thrombophilia Panel-Basic (Lupus Anticoagulant, Activity of Protein C, Protein S, at III and APCR, ACA-IgG/IgM) FLT3 Gene Mutation Quantitative Monitor Beta - 2 - Microglobulin, Serum Kappa/Lambda free Light Chain Protein electrophoresis, Serum Multiple myeloma diagnostic panel Multiple Myeloma comprehensive panel Quantitative T cell gene rearrangement Tacrolimus CA 125; Ovarian Cancer Marker Cytogenetics (Karyotyping), Leukemia Advance (Flowcytometry) IKZF1 deletions (B- or T-ALL) VNTR Chimerism study Jak 2 Exon 12-15 Erythropoietin (EPO)+Jak 2 Exon 12-15 Ewing's Sarcoma n MYC gene amplification IgH gene rearrangement BCR – Abl Kinase Domain Mutations FLT3 Monosomy7 Del 5q X Y Chimerism MLL Multiple Myeloma del17p, t(14;20), Monosomy 1,t(14;16), t(11;14), del13q and t(4;14) Multiple Myeloma (del13q14.3,t(4;14),t(14;16),t(11;14) Inv (16) (CBFB/MYH11) t(8;21)(AML1/ETO) t(12;21) ETV6/RUNX1(TEL/AML1) ALL Panel(BCR-ABL;TEL/AML;MLL;E2A(1;19) 13q deletion Trisomy 12 6q deletion Double/Triple hit lymphoma (blood and BM) t(1;19) (q23;p13.3); TCF3-PBX1(E2A-PBX1), PCR Qualitative hemaCORE MDS extended 8 markers (Monosomy 5/ Del 5q, Monosomy 7/ Del 7q, Trisomy 8, Del20q, Monosomy 13/ Del 13q (RB1), Monosomy 17/ Del 17p (TP53), MLL Break apart (BA)/ 11q23 realted translocation, MECOM Break apart (BA)/ Inv-3) RARA translocation AML panel with MLL by FISH (PML/RARa,AML/ETO,Inv 16 and MLL gene CLL (del 6q,del 11q,del13q,Trisomy12,del17p) Beta Thalassemia-XMN polymorphism Jak 2 Exon 14 to 12 (Reflex Testing) t(5;12)PDGFRB/ETV6 AML/ETO Quantitative Inv (16) Quantitative Jak 2 Exon 14 Prothrombin Gene Mutation Analysis Factor V Leiden Mutation Anaysis ( MTHFR gene) FIP1 L1 -PDGFRa ALL Multiplex (BCR-ABL,MLL-AF9,MLL-AF4,MLL-EN6, t(1;19) & t(12;21)) Hematopoietic Neoplasm Panel Peripheral smear,Bone marrow aspirate and Bone marrow biopsy including iron stain & special stain MDS PML Rara BCR - Abl FISH (t (9;22)) 11Q (ATM) Beta Thalassemia mutation study CD61 AML Multiplex- Basic (BCR - ABL, PML RaRa, AML ETO, INV 16, NPM1, FLT3,c-KIT) Kappa And Lambda-Free Freelite CDK4 FLI-1 CD56 ALK-1(CD246) BCL-2 CD20 CY CD3 CD99 (IHC) CD34 (IHC) CK5/6 LCA (CD45) CD138 (diagnosis of multiple myeloma) Heme Multigene Panel Osmotic Fragility Test; RBC Fragility Test BCR-ABL Quant with p210 breakpoint BCR - Abl Qualitative (t (9;22)) BCR - Abl Quantitative- IS Hemoglobin Electrophoresis MDS by Flow Lymphocyte subset panel With NK cells (Percent and absolute count of CD3, CD4, CD8, CD 19, CD16/56) CLL MRD AML MRD Multiple Myeloma MRD Flow Cytometry, Individual marker- CD 19 ALL MRD Leukemia diag/MRD combo panel Protein C, Functional Erythropoietin (EPO) Multiple Myeloma comprehensive panel Qualitative Sarcoma Mutation Analysis Panel, Pediatric, PCR PML Rara Quantitative PML Rara Qualitative Flowcytometry - PNH Diagnostic Panel (CD33,CD45,CD55,CD59) Multiple Myeloma (CD45,CD138,CD38,CD19,CD117,CD45,Cy Lambda,Cy Kappa,CD56) ZAP70 PNH Adv- CD(45, 15, 24, FLAER, 14, 64, 59,235a) PNH Basic- CD(45, 15, 24, FLAER, 14, 64) CD56 (Natural Killer Cell Marker) CD45 CD20 (B - Cell Marker) CD19 ( B-Cell Marker) CD5 (T Cell / B - Cell Subset Marker) CD4 (Helper T - Cell Marker) CD3 (T - Cell Marker) CLPD/Leukemia CLPD Advance CLPD Basic Leukemia-Advance Leukemia-Basic CD23 (CLL Segregation Marker) Myeloid Tumor panel MPN Panel 3 (BCR/ABL Qualitative, JAK2 (12-15), MPL, CALR) IG VH Gene Mutation Detection AML Multiplex-Advance (BCR - ABL, PML RaRa, AML ETO, INV 16, NPM1, FLT3,c-KIT,CEBPA) MPN Panel 1 ((JAK-2 (12-15),MPL,CALR) B Cell Gene Rearrangements IGH Clonality NPM-1 CEBPA MPN Panel 2 ((Jak-2 Exon 14-12 reflex testing, MPL) Leukemia reflex panel-1 (Adv. to AML/ALL Multiplex basic, CEBPA) Fanconi Anemia DNA Mutation Analysis (FANCC gene targeted mutation analysis) ALCL (Anaplastic large cell Lymphoma) t(2;5) NPM-1,CEBPA,FLT3 HLA Typing- Advanced (A,B,C,DQ & DR, DPB1) HLA Typing - Basic (A,B,DR) Leukemia reflex panel -2 (A.Lek.basic+Karyotype+AML/ALL Multiplex Basic C-Myc gene rearrangement BCL6(3q27) translocation BCL2(18q21.3)translocation t(11;18)API2/MALT1 t(8;14) IGH/MYC t(14;18)IGH/BCL2 Synovial Sarcoma t(X;17) FGFR1(8p12) translocation Fanconi Anemia Double/Triple Hit Lymphoma (tissue) MPL w515 Chimerism-Pre Engraftment, Donor & Recipient Chimerism-Post Engraftment MTHFR hemaCORE HLA high resolution (A,B,C,DR,DQ,DPB1) hemaCORE HLA high resolution (A,B,C,DR,DQ) c- KIT Mutation Analysis (GIST) Jak 2 Exon 12 CALR HTLV 1 And 2 virus Karyotyping for Hematological Malignancies Von Willebrand Antigen Multiple Myeloma comprehensive panel Quantitative Urine C- Reactive Protein (CRP) Beta 2 Glycoprotein 1 Panel (IgG, IgM, IgA) Product of Conception (POC), Cytogenetics + reflex FISH BOH Chlamydia Trachomatis And Neisseria Gonorrhoeae Endomysial Antibody IgA Inhibin A, Reproductive Marker Anti Mullerian Hormone (AMH) Torch Panel IgG & IgM Maternal Serum Screen 3; Triple Test Maternal Serum Screen 2; Dual Test Maternal Serum Screen 4; Quadruple Test Cytogenetics (Couple Karyotyping) Cytogenetics (Genetic Disorders) Y Chromosome Microdeletion Analysis 16 STS Markers (only for males) Coeliac Comprehensive profile Hepatitis B Viral Drug Resistance & Genotyping HCV RNA Quantitative & Genotype HCV RNA Quantitative & Genotype (Reflex panel) Comprehensive Food Intolerance Panel Fecal Calprotectin HCV Genotyping (Genotype 1,2,3.4,5,6) HCV RNA Qualitative HBV DNA Qualitative Hepatitis C Virus (Anti HCV) Hepatitis E Antibody (Anti-HEV), IgM HCV RNA Quantitative HBV DNA Quantitative Hepatitis A Virus RNA Detection HCV & HBsAg Rapid Qualitative HCV Rapid Qualitative HEPATITIS C VIRUS (Anti-HCV) HPV E6/E7 LBC + HPV high risk (hybrid capture) HPV (HUMAN PAPILLOMA VIRUS) Detection & Genotyping, Qualitative HPV DNA Reflex testing (HPV +ve to LBC) Reflex testing (LBC +ve to HPV DNA) LBC ( Liquid Based Cytology) LBC + HPV DNA (RT-PCR) Inhibin B Cancer Targeted Gene Panel Colon/Colorectal COREprime EGFR COREprime ROS1 COREprime ALK COREprime Lung Panel 2 (EGFR (PCR)+ALK(IHC)+ROS1(IHC)) COREprime Lung Panel 1 (ALK+EGFR) VEGF IHC Her2neu Progesterone Receptor Estrogen Receptor (ER) geneCORE Paradigm Immunotherapy Panel (TMB + PD-L1 IHC) + MSI geneCORE Paradigm Tumor Mutational Burden (TMB) stand alone + MSI Paradigm NGS (DNA+TMB) as well as primary(7-13) IHC panel + MSI Paradigm NGS (DNA+TMB) + MSI Paradigm NGS (DNA+TMB) as well as primary(14-24) IHC panel + MSI c-Kit, PDGFRA (Mutation Analysis) EGFR +ALK (FISH)+ROS-1+MET, HER2(FISH), PDL-1 EGFR (mutation analysis)+ALK Protein (lung) IHC +ROS-1 EGFR Mutation Analysis + ALK (FISH) + ROS1 (FISH) + PDL1 (IHC) + BRAF Mutation Analysis EGFR Mutation Analysis + ALK (FISH) + ROS1 (FISH) + PDL1 (IHC) EGFR Mutation Analysis + ALK (IHC)+ ROS1 (FISH) + PDL1 (IHC) EGFR (mutation analysis)+ALK Protein (lung) IHC EGFR (mutation analysis)+ALK FISH EGFR (mutation analysis) +ALK FISH +ROS-1 NRAS Mutation Analysis PDGFRA Mutation Analysis-Solid Tumors IDH 1 &2 TPMT Genotyping ALK Fusion liquiCORE CTC (lung Cancer) liquiCORE CTC (Prostate Cancer) liquiCORE CTC (Breast Cancer) EGFR (mutation analysis) +ALK IHC+ROS1 FISH+MET FISH EGFR (mutation analysis) +ALK FISH+ROS1 FISH+MET FISH COREprime Lung Panel 3 (EGFR (PCR)+ALK(IHC)+ROS1(IHC) reflex to ROS1(FISH)) uniCORE Chromogranin A Serum 1p19q PDGFRB (5q33) translocation 17p deletion KRAS, NRAS, BRAF Mutation Analysis Microsatellite Instability Any 7 IHC markers with interpretation dualCORE (Unlimited Markers) dualCORE (Upto 7 Markers) EGFR ROS-1 MET EGFR T790 Mutation analysis PulmoCORE Comprehensive (without PDL1 on Blood) pulmoCORE Comprehensive panel (blood) liquiCORE Detect KRAS Mutation Analysis EGFR Mutation Analysis PDL-1 22C3 Dako HER-2 FISH liquiCORE EGFR (cell free DNA) ER/PR by IHC & Her2 neu FISH KRAS and NRAS Mutation Analysis geneCORE-Hotspot geneCORE Homologous Recombination Deficiency geneCORE Predict mammaCORE BRCA 1 &2 deletion duplication panel PAX-8 (diagnosis of follicular, thyroid, renal carcinoma) VENTANA ANTI-ALK (D5F3) Rabbit Monoclonal ROS1 (D4D6 R) Rabbit Mab CST NKX3.1 ATRX E-Cadherin VENTANA PDL-1 (SP263) CMYC Ep121 Anti -IDH1 R132H (Hu) Androgen Receptor GATA-3 Any 7 IHC markers with diagnosis Any 5 IHC markers with diagnosis Any 3 IHC markers with diagnosis Any 2 IHC markers with diagnosis ER,PR,HER2neu,Ki67 ALK protein (Lung) Ki67,p53,ER/PR, Her2neu p40 Napsin A p16 (diagnosis of head & neck cancer) Any 2 IHC markers with interpretation Any 5 IHC markers with interpretation Any 3 markers with interpretation MMR panel ER,PR, Her2neu AMACR EGFR(IHC) p63 CK19 CDX2 CD117 (c-KIT) ER,PR combined TTF 1 P53 PROTEIN PMS2 MSH6 DBS MSH2 MLH1 Ki-67 with Interpretation Cytokeratin (Pancytokeratin) Chromogranin A S100 GeneCORE Comprehensive Tumor Panel (73 genes) geneCORE Deep Gene Sequencing Somatic mutation analysis of BRCA 1 & 2 TERT mutation - full gene sequencing mammaCORE BRCA Comprehensive test Tumour Necrosis Factor (TNF) ,Alpha PulmoCORE panel 3 GlioSeq MLH1 Mutation Analysis RAS Mutation Analysis, Cell-based (HRAS Mutation KRAS Mutation NRAS Mutation) (Colon Cancer) Mammaprint +Blueprint pulmoCORE PDL1 (Blood) Any 7 Markers Any 5 Markers MLH1 Hypermethylation geneCORE Oncomine 52 gene panel PD-1 with Interpretation BRAF mutation analysis papillary thyroid cancer RET/PTC Rearrangement, thyroid cancer IDH 1 & 2 mutation (AML Patient only) pulmoCORE 5 Gene Panel EGFR, BRAF, c-MET, ALK & ROS1 + Met Amplification Oncotype Dx mammaCORE BRCA 1 &2 full gene sequencing mammaCORE Prosigna Melanoma Panel I- CKIT & BRAF UGT1A1 Genotyping PulmoCORE Extended panel Vascular Endothelial Growth Factor (VEGF) Mutation Specific Testing Guardant360 BRAF PI3K Pathway:(Mutation analysis) MGMT Paradigm - PDL1 UroVysion Phospholipase A2 Receptor Antibody - Quantitative Glioma panel 1 (IDH (IHC) + ATRX (IHC) + IDH Mutation Analysis + MGMT + 1p19q) Pulmo DDX (IHC), EGFR Mutation Analysis (Realtime-PCR), ALK (FISH) EGFR +ALK (FISH)+ROS-1+MET+HER2(FISH)+PDL-1+BRAF MSH6 Gene Sequencing MSH2 gene sequencing PMS2 gene sequencing RCC liquiCORE CTC (Colorectal Cancer) liquiCORE CTC (Pancreatic Cancer) TFE3 Immunohistochemistry, Individual Marker, Growth Hormone Hyperoxaluria (Next Generation Sequencing of AGXT, GRHPR, or HOGA1) Egfr Prime, Alk (ihc), Ros1(fish) Biopsy,complex/radical PulmoCORE Comprehensive (without PDL1 on Tissue) Cytokeratin 8 Histopathology, Biopsy, Large Marfan syndrome panel X-linked dyserythropoietic anemia and thrombocytopenia GATA1 hotspot BCL6 (BIOSB BSB-5079) GCDFP15 (EP95 Rabbit Monoclonal) Alpha Actin Smooth Muscle (EP188 Rabbit Monoclonal) SMA RABBIT MONOCLONAL NEGATIVE CONTROL Ig (HCL-1003) CD79A (Dako) Arginase 1 Any 2 IHC markers without interpretation Any 7 IHC markers without interpretation Any 5 IHC markers without interpretation Any 3 IHC markers without interpretation Ber- Ep4 (EpCAM) CD68 (diagnosis of malignant histiocytosis) Uroplakin II D-240 Calponin Beta catenin (EP35 Rabbit Monoclonal) MPO (Is 51130-2) Dako CALDESMON TdT CD23 SALL4 CD20 CY (Dako) Tinto MDM2 Predilute Tinto STAT6 RMab Anti Vascular Endothelial Growth Factor (MA512184) VG1 CD7 Glypican 3 ERG-EP111-Rabbit Monoclonal PAX2-EP235-Rabbit Monoclonal) INI1 PSMA IHCL-0572 (LAMBDA Light Chain) Annexin-A1 MERTK CD44 TINTO OLIG22RMab Mammaglobin (diagnosis of primary & metastatic breast cancer) CD21 (diagnosis of lymphomas) HCG (diagnosis of chorio carcinoma) Inhibin A (Diagnosis of granulosa cell ovarian Tumor) CD43 (T cell Lymphoma) Histopathology, Biopsy, Medium Specimen Kappa (Diagnosis of B-cell lymphomas) Pulmo DDX HMWCK (Dako) CD31 MELAN A CD4 (EP204) Rabbit Monoclonal Cyclin D1 CD79A Neurofilament MUC2 MUC5AC- PM233-6ML GFAP OCT3/4 ESR1 gene Full gene sequencing Estrogen Resistance (ESR1 gene) (Carrier testing) Watson Genomics MUC 1 IHC without Interpretation VHL gene deletion/duplication VHL gene mutation 3 exons by sequencing liquiCORE BRAF RAS Mutation Analysis, Thyroid cancer (codons 12, 13 and 61 of HRAS, KRAS and NRAS) Slide/ Block return (upto 10 blocks) Histo Biopsy Frozen section Tissue Block return- upto 5 blocks Tissue Block return- upto 4 blocks Tissue Block return- upto 3 blocks geneCORE Me Sickle Cell Mutation Detection 22q11 microdeletion (DiGeorge syndrome) TERT mutation Carrier testing Serum Associated Amyloid IHC marker (SAA) Melanoma Panel II- CKIT, BRAF & NRAS Paradigm - PD1 Marfan Syndome, Carrier testing Bacterial Meningitis Panel (H. Influenzae, N. Meningitis, S.Pnemoniae Freidrichs Ataxia Mutation Panel Rett Syndrome Angelmans Syndrome Spino Cerebral Ataxia -SCA Panel (1,2,3,6,7,12) Multiple Sclerosis Panel- Basic (Albumin-CSF & Serum, IgG-CSF & Serum, Oligoclonal Band, CSF Index) Glioma panel 2 (Neuro DDX(IHC), MGMT(MS PCR), IDH 1 & 2 (Mutation Analysis), 1p19q (FISH)) Spinal muscular atrophy ( SMA ) Rett syndrome ( MECP2 sequencing and Deletion / duplication ) 1p deletion NeuroDDX Duchenne Muscular Dystrophy (DMD)/BMD deletion/duplication analysis Dystonia ( DYT5 gene sequencing ) Dystonia (DYT1 gene sequencing) Rett syndrome MECP2 Sequencing Hereditary Neuropathies Panel Epilepsy and Seizure Disorders Ataxia-Telangiectesia Panel Autism Spectrum Disorder Parkinson's Disease Panel Dystonia Panel Peroxisomal Disorders Lysosomal Storage Disorders- Tay Sachs Disease(HEXA) Limb Girdle Muscular Dystrophy Joubert syndrome Duchenne Muscular Dystrophy (Next Generation Sequencing of full dystrophin / DMD gene) Congenital Muscular Dystrophy Friedreich ataxia - molecular diagnosis Angelman syndrome methylation test Prader Willi syndrome (PWS) Spinal cerebellar ataxia package ( 1, 2, 3, 6, 7, 12, 17 ) Spinal cerebellar ataxia package ( 1, 2, 3, 12 ) Spinal muscular atrophy -SMN2 copy number analysis Spinal Muscular Atrophy - SMN 1 Gene Sequencing Spinal muscular atrophy ( SMA ) - molecular diagnosis Thrombophilia profile (DNA)-3 polymorphisms Wilsons Disease- 5 common mutations Wilson linkage presymptomatic LGMD2E common mutations (exons 19 & 22) RETT Syndrome MECP2 Deletion/Duplication Rett syndrome atypical -CDKL5 MLPA Fragile X syndrome (Methylation) Fragile X in Females Fragile X- FMR1/AFF2 probemix MLPA Sequencing Parkinson ( Gly19 ser mutation ) Fragile X chromosome analysis Whole Exome Sequencing Panel DUCHENNE / BECKER MUSCULAR DYSTROPHY (DMD / BMD) GENE MUTATION Fragile-X Syndrome (FMR1 – gene dosage & methylation) Spinal cerebellar ataxia ( SCA ) - two gene Spinal muscular atrophy ( SMA ) - prenatal diagnosis Dystonia (DYT1,6,12,16) MLPA Ataxia Telengiectasia chromosomal analysis ( Bieomycin Assay ) Neurofibromatosis type 2 NF2 22q12 MLPA Neurofibromatosis linkage ( prenatal diagnosis ) Neurofibromatosis (Exon 16) Duchenne muscular dystrophy ( DMD ) prenatal diagnosis Wilson disease - prenatal diagnosis by linkage 22q deletion (N-25) Joubert Syndrome -21 (exon 19 and 23) Congenital Muscular Dystrophy (LAMA2) deletion/duplication analysis 4 in 1 Genetic Screening Panel Parkinson's Disease Panel- Familial Wilson's Disease Limb Girdle Muscular Dystrophy deletion/duplication analysis ( SGCA, SGCB, SGCD, SGCG & FKRP) VGCC Antibody- LEMS Steroid-Resistant Nephrotic Syndrome Renal Cancer Comprehensive Panel Primary Hyperoxaluria Nephronophthisis Joubert and Meckel Polycystic Kidney Disease Cystinuria Branchiootorenal Spectrum Disorders Bartter Syndrome Bardet-Biedl Syndrome t (17;19) CCND1 t(11;14 translocation) t(8;14) IGH/MYC t(14;18)IGH/BCL2 t(11;17) Miller Dieker Syndrome BCL6 t(3q27) Monosomy 1 Translocation (1;19) Trisomy8 Bone Marrow NSE Stain Bone Marrow,MPO stain Bone Marrow,Reticulin stain PAS D Trichrome (MT) EBV IHC without Interpretation Immune Deficiency Panel 1 Protein Electrophoresis Reflex immunofixation (Qualitative) CD 41a Platelet Antibodies, Indirect (IgG, IgM, IgA) CD11b CD43 CD58 CD138 CD200 Lambda Light Chain (Clonal Restriction/B -Cell Maturity Marker) Kappa Light Chain (Clonal Restriction/B -Cell Maturity Marker) FMC - 7 (NHL / CLL Differentiation Marker) HLA - DR (Miscellaneous Marker) MPO (Myeloid Cell Marker) Anti TCR -1 Gamma/ Delta Anti TCR -1 Alpha/ Beta TdT (Precursor Cell Marker) CD123 CD117 (Myeloid Cell Marker) / GIST Marker CD103 (Hairy Cell Marker) CD71 (Erythroid Cell Marker) CD64 (Myelo Monocytic Cell Marker) CD61 (Megakaryocytic Marker) CD38 (Plasma Cell / Prognostic CLL Marker) CD34 (Precursor Cell Marker) CD33 (Myeloid Cell Marker) CD25 (Hairy Cell / NHL Differentiation Marker) CD22 (B - Cell Marker) CD16 (Natural Killer Cell Marker) CD15 (Myeloid Cell Marker) CD14 (Monocytic Cell Marker) CD13 (Myeloid Cell Marker) CD11c (Myeloid / Hairy Cell / NHL Differentiation Marker) CD10 (CALLA) Prognostic ALL Marker CD8 (Suppressor T - Cell Marker) CD7 ( T - Cell / Early Myeloid Cell Marker) CD2 ( T - Cell Marker) CD1a (T - Cell Marker) Glycophorine (CD235a) CyCD3 (T- Cell marker) Chimerism, Split Cell Analysis DNA Ploidy &S Phase (Leukemia) t(17;22) COL1A1/PDGFB CCND1 t(11;14 translocation) 12q13 (Myxoid/Round Cell Liposarcoma) FLT3/ITD allelic frequency assay Recipient only, HLA typing (High Resolution) A & B Donor only, HLA typing (High Resolution) A & B Donor only, HLA typing (High Resolution) t (5:14) HOX11 KIR TYPING (per individual) Cytogenetics (Karyotyping), BCR-Abl Qual (RT-PCR) c-KIT: AML LBC (Cytology)+HPV DNA (RT-PCR)+E6-E7 LBC with out opinion X Y Chromosome Trisomy 21 / Down syndrome Zellweger Syndrome Xeroderma Pigmentosum Usher Syndrome Retinitis Pigmentosa Glaucoma Flecked Retina Congenital Cataracts Cone-Rod Dystrophy Ciliopathies Bardet-Biedl Syndrome Ataxia with Oculomotor Apraxia Type 1/2 Alport Syndrome Achromatopsia T3, REVERSE Diabetes Progression Panel Overweight and Obesity Panel geneCORE Nutrient Statin Tolerance RET Gene mutation for 6 exons Premature Ovarian Failure Kallmann Syndrome Panel Hypothyroidism and Resistance to Thyroid Hormone Panel Hypomagnesemia Panel Hypoglycemia, Hyperinsulinism and Ketone Metabolism Panel Hyperparathyroidism Panel Glucocorticoid Deficiency Panel Congenital Adrenal Hyperplasia Panel Fatty Acid Oxidation Disorders Panel Comprehensive Monogenic Diabetes Panel Abnormal Genitalia/ Disorders of Sex Development Panel Leptin Gene, Sequencing & Deletion/Duplication PPARG, Full Gene Sequencing POMC, Full Gene Sequencing obeCORE Monogenic Obesity Maturity Onset Diabetes of the Young (MODY) Hypoglycemia, Hyperinsulinism and Ketone Metabolism Panel Anti Thyroid Antibodies panel Anti Thyroglobulin Antibody; ANTI Tg Warfarin Sensitivity Thrombophillia 3- gene Clopidogrel Sensitivity Anti- Hypertensives Response Panel Familial Hyperlipidemia type III Comprehensive Cardiovascular Panel Hereditary Heart Health Test Heterotaxy and Situs Inversus Panel Noonan and RASopathies Panel Congenital Heart Diseases Panel Familial Hypercholesterolemia (FH) Panel Capillary Malformation-Arteriovenous Malformation Syndrome Test Hereditary Hemorrhagic Telangiectasia Panel Pulmonary Arterial Hypertension (PAH) Panel Loeys-Dietz syndrome Ehlers-Danlos syndrome, Marfan/TAAD Panel Heritable Disorders of Connective Tissue Panel (HDCT Panel) Combined Cardiac Panel Brugada Syndrome Panel CPVT Panel Arrhythmia Panel LQTS Panel SQTS Panel Familial Atrial Fibrillation Panel SCA Arrhythmia Panel Cardiomyopathy Panel ARVC Panel HCM Panel LNVC Panel DCM Panel Corus CAD eof UNCODE !== "undefined" ) UNCODE.initRow(document.getElementById("script-116093"));
