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Diagnostic Tests

Our current diagnostics portfolio includes more than 250 DNA and RNA based tests using platform technologies such as quantitative PCR, MLPA, Sequencing (Capillary Sequencing, Next Generation Sequencing on Illumina MiSeq) and Affymetrix Microarray. All these tests are done in-house at our facility. Our test menu is constantly expanding, so please check back frequently for new tests. The tests offered currently are:

Haematology / Haemato-oncology

Test No. Test Name Analytical Technique Sample required TAT
HAEPCR032 BCR/ABL t(9;22) translocation (Philadelphia Chromosome) Major (p210) + Minor (p190) qualitative Reverse Transcription Taqman real time PCR Blood/ Bone marrow in EDTA 2 days
HAEQPC033 BCR/ABL t(9;22) translocation (Philadelphia Chromosome) Major (p210) quantitative (MRD) Reverse Transcription Taqman real time PCR Blood/ Bone marrow in EDTA 2 days
HAEQPC204 BCR/ABL t(9;22) translocation (Philadelphia Chromosome) Major (p210) quantitative (MRD) - International Scale (IS) Cepheid GeneXpert Blood in EDTA 1 day
HAEQPC200 BCR/ABL Diagnostic Panel for CML (Major/e13a2/e14a2; reflex testing of 13 variants e14a3, e1a2,e1a3, e19a2, e6a2,e8a2 etc) and reflex to BCR/ABL FISH Reverse Transcription Taqman real time PCR, FISH (reflex) Blood/ Bone marrow in EDTA and Heparin 3-7 days
HAENGS338 BCR-ABL Tyrosine Kinase inhibitor resistance mutations including BCR-ABL quantitation NGS Blood/ Bone marrow in EDTA 3-4 weeks
HAEQPC133 Factor V Leiden (FVL R506Q/ G1691A) mutation analysis ARMS real time PCR Blood in EDTA 2 days
HAEQPC134 Factor II / Prothrombin (FII G20210A) mutation analysis CE-Seq Blood in EDTA 10 days
HAEQPC135 MTHFR (A222V/C677T) mutation analysisMTHFR (A222V/C677T) mutation analysis ARMS real time PCR Blood in EDTA 2 days
HAEQPC152 MTHFR two common mutations (A222V/C677T + E429A/A1298C) ARMS PCR Blood in EDTA 10 days
HAEQPC138 Thrombophilia common mutations panel (FVL G1691A, FII G20210A, MTHFR C677T + A1298C) ARMS real time PCR Blood in EDTA 12 days
HAEQPC035 Acute Lymphocytic Leukemia (ALL) common translocations qualitative panel (BCR/ABLt(9;22), E2A/PBX2t(1;19), TEL/AML t(12;21), MLL/AF4 t(4;11)) Reverse Transcription Taqman real time PCR Blood/ Bone marrow in EDTA 2 days
HAEQPC163 Acute Promyelocytic Leukemia (APML)PML/RARA t(15,17) translocation qualitative Reverse Transcription Taqman real time PCR Blood/ Bone marrow in EDTA 1 day
HAEQPC376 Acute Promyelocytic Leukemia (APML)PML/RARA t(15,17) translocation semi-quantitative Reverse Transcription Taqman real time PCR Blood/ Bone marrow in EDTA 1 day
HAEQPC164 Acute Myeloid Leukemia (AML) common translocations / inversion qualitative panel ML1/ETO t(8;21), CBFB/MYH11 inv(16),PML/RARA t(15;17)) Reverse Transcription Taqman real time PCR Blood/ Bone marrow in EDTA 2 days
HAENGS189 FLT3 (ITD + D835) - AML Prognostic Markers NGS Blood/ Bone marrow in EDTA 4-6 weeks
HAENGS182 WT1 sequence analysis (exons 7 and 9) - AML Prognostic Markers NGS Blood/ Bone marrow in EDTA 4-6 weeks
HAEQPC183 WT1 gene expression - AML Prognostic Marker Reverse Transcription Taqman real time PCR Blood in EDTA 5 days
HAENGS184 NPM1 gene sequencing (exon 12) - AML Prognostic Marker NGS Blood/ Bone marrow in EDTA 4-6 weeks
HAENGS301 Extended AML Panel 1 (AML translocations, FLT3 (ITD + D835), NPM1(exon 12)) NGS Blood/ Bone marrow in EDTA 4-6 weeks
HAENGS302 Extended AML Panel 2 (AML translocations, FLT3 (ITD + D835), NPM1(exon 12), WT1 Exons 7 and 9) NGS Blood/ Bone marrow in EDTA 4-6 weeks
HAENGS303 Extended AML Panel 3 (AML translocations, FLT3 (ITD + D835), NPM1 (exon 12), WT1 (exons 7 and 9), CEBPA) NGS Blood/ Bone marrow in EDTA 4-6 weeks
HAEQPC137 JAK2 (V617F) ARMS real time PCR Blood/ Bone marrow in EDTA 2 days
HAENGS336 Advanced Philadelphia -ve Chronic Myeloproliferative disorder panel (JAK2 (Exon 12, 14), MPL (Exon 10), CALR (Exon 9)) High Depth Sequencing NGS Blood/ Bone marrow in EDTA 3-4 weeks
HAENGS187 UGT1A1 Promoter Sequencing for Gilbert's syndrome common mutations and Irinotecan toxicity NGS Blood in EDTA 4-6 weeks
HAENGS337 Full HBB gene sequencing for Beta Thalassemia by Next Generation Sequencing NGS Blood in EDTA 4-5 weeks
HAESEQ034 Full HBB gene sequencing for beta Thalassemia + HPLC NGS + HPLC Blood in EDTA 3-4 weeks
HAESEQ031 Targeted (known) mutation detection in HBB gene with Maternal Cell Contamination for Prenatal samples CE-Seq/ ARMS PCR + Fragment analysis Antenatal sample (CVS, Amniotic Fluid) 10 days
HAESEQ342 Sickle cell anemia (Capillary Sequencing) CE-Seq Blood in EDTA 2 weeks
HAESEQ343 Sickle cell anemia (Hb Electrophoresis + Capillary Sequencing) Hb Electrophoresis, CE-Seq Blood in EDTA 2 weeks
HAEMLP344 Alpha Thalassemia (Alpha globin/ HBA gene deletions) by MLPA MLPA Blood in EDTA 10 days
HAEMLP345 Alpha globin gene (HBA) triplication by MLPA MLPA Blood in EDTA 10 days
HAEPCR335 Chimerism Analysis Trio (Donor & Recepient pre transplant + Recepient post transplant) PCR + Fragment analysis Blood/ Bone marrow in EDTA 7 days
HAEQPC212 Haemochromatosis (Common mutations H63D and C282Y in the HFE gene) ARMS real time PCR Blood in EDTA 7 days
HAENGS229 ADAMTS13 gene sequencing for Thrombotic Thromocytopenic Purpura (TTP) by Next Generation Sequencing NGS Blood in EDTA 4-6 weeks
HAENGS230 Fanconi anemia gene panel by Next Generation Sequencing NGS Blood in EDTA 4-6 weeks
HAENGS231 Genetic hemolytic anemia (Pyruvate kinase deficiency, G6PD, herditary spherocytosis) by Next Generation Sequencing NGS Blood in EDTA 4-6 weeks
HAENGS232 Primary Immunodeficiency disorders by Next Generation Sequencing NGS Blood in EDTA 4-6 weeks
HAENGS233 Pure red cell aplasia by Next Generation Sequencing NGS Blood in EDTA 4-6 weeks
HAENGS234 Porphyrias by Next Generation Sequencing NGS Blood/ Bone marrow in EDTA 4-6 weeks
HAENGS346 Next generation sequencing for Von Willebrand disease (VWF gene) NGS Blood in EDTA 4-6 weeks
HAENGS347 Next generation sequencing for Haemophilia and other bleeding disorders NGS Blood in EDTA 4-6 weeks

Oncology (solid tumors)

Test No. Test Name Analytical Technique Sample required TAT
ONCQPC141 BRAF (V600E) ARMS real time PCR Paraffin block/ Fresh tissue 2 days
ONCNGS168 BRAF V600 region sequencing NGS Paraffin block/ Fresh tissue 4-6 weeks
ONCNGS160 KRAS mutation analysis (codons 12, 13, 61 & 146) by NGS NGS Paraffin Block/ Fresh tissue 4-6 weeks
ONCNGS158 EGFR mutation analysis (exons 18, 19, 20 and 21) by NGS NGS Paraffin Block/ Fresh tissue 4-6 weeks
ONCNGS236 EGFR (exons 18, 19, 20 and 21) and KRAS (codons 12, 13, 61 and 146) ultradeep mutation analysis by Next Generation Sequencing NGS Paraffin Block/ Fresh tissue 4-6 weeks
ONCNGM237 Lung Cancer Panel 1 (EGFR sequencing + ALK, RET and ROS1 translocations) PCR + NGS + Mass Spectrometry Paraffin Block/ Fresh tissue 2-3 weeks
ONCMSP238 Lung Cancer Panel 2 (214 somatic mutations in 26 oncogenes and tumor supressor genes in NSCLC) PCR + Mass Spectrometry Paraffin Block/ Fresh tissue 2-3 weeks
ONCNGS045 BRCause NGS Panel - Full sequencing of BRCA1 and BRCA2 NGS Blood in EDTA 4-6 weeks
ONCMLP203 BRCopy: BRCA1, BRCA2 and CHEK2 copy number variations and large gene rearrangements MLPA Blood in EDTA 10 days
ONCMNG372 BRComplementary: BRCause NGS Panel and BRCopy MLPA NGS, MLPA Blood in EDTA 4-6 weeks
ONCNGS046 BRComplete NGS Panel - Full sequencing of BRCA1, BRCA2, STK11, PTEN, TP53,PALB2, CDH1, ATM and CHEK2 + 17 additional genes NGS Blood in EDTA 4-6 weeks
ONCNGS225 BRComprehensive Panel: BRComplete NGS Panel and BRCopy MLPA Panel NGS, MLPA Blood in EDTA 4-6 weeks
ONCNGS240 Germline panel for Colorectal (Colon) Cancer (Next Generation Sequencing of APC, MUTYH, MLH1, MSH2, MSH6, PMS2, LKB1, SMAD4,BMPR1A, PTEN and KLLN) NGS Blood in EDTA 4-6 weeks
ONCNGS241 Germline Panel for Hereditary Non-polyposis Colorectal Carcinoma (HNPCC)/ Lynch Syndrome (Next Generation Sequencing ofMLH1, MSH2, MSH6 and PMS2) NGS Blood in EDTA 4-6 weeks
ONCNGS242 Cowden's Disease: Next Generation Sequencing of PTEN and KLLN genes NGS Blood in EDTA 4-6 weeks
ONCNGS243 Peutz-Jeghers Syndrome (Next Generation Sequencing of the LKB1 gene) NGS Blood in EDTA 4-6 weeks
ONCNGS244 Next Generation Sequencing of the RET gene for Multiple Endocrine Neoplasia (MEN) NGS Blood in EDTA 4-6 weeks
ONCNGS245 Next Generation Sequencing for Pheochromocytoma (VHL, RET, SDHB,SDHC, SDHD, GDNF, TMEM127, MAX andKIF1B) NGS Blood in EDTA 4-6 weeks
ONCNGS246 Li Fraumeni Syndrome (Next Generation Sequencing of TP53) NGS Blood in EDTA 4-6 weeks
ONCNGS248 Retinoblastoma (RB1 gene Next Generation Sequencing) NGS Blood in EDTA 4-6 weeks
ONCNGS249 Tumor Panel (Hotspots in 50 somatic cancer genes) NGS FFPE/ Tissue blocks 4-6 weeks

Paediatrics and Paediatric Endocrinology

Test No. Test Name Analytical Technique Sample required TAT
ENDMET188 Russell-Silver/ Beckwith-Weidemann syndrome (chromosome 11p15 region) gene dosage and methylation MS-MLPA Blood in EDTA 10 days
PAEMET143 Prader-Willi/ Angelman (15q11 region – gene dosage & methylation) MS-MLPA Blood in EDTA 10 days
PAEMET148 Fragile-X Syndrome (FMR1 – gene dosage & methylation) MS-MLPA Blood in EDTA 10 days
PAEPCR371 Fragile-X Syndrome Triple Prime PCR TP-PCR Blood in EDTA 4 weeks
GYNMLP132 Common Aneuploidies (Trisomy 13, 18, 21 + X & Y) MLPA Blood in EDTA 10 days
NEUMLP130 Duchenne Muscular Dystrophy (deletions/ duplications of 79 exons of dystrophin / DMDgene) MLPA Blood in EDTA 10 days
MSDNGS250 Duchenne Muscular Dystrophy (Next Generation Sequencing of full dystrophin / DMD gene) NGS Blood in EDTA 4-6 weeks
ENDQPC003 Ambiguous Genitalia - rapid resolution (SRY,DYS14) Taqman real time PCR Blood in EDTA 1 day
ENDMLP004 Disorders of Sexual Differentiation (Intersex disorders) - gene dosage (SRY, ZFY,NR0B1/DAX1, WNT4, SOX9, NR5A1) MLPA Blood in EDTA 10 days
ENDNGS375 DAX1/ NR0B1 gene sequencing for Congenital Adrenal Hypoplasia NGS Blood in EDTA 4-6 weeks
ENDMLP153 Gonadal development disorders - gene dosage (DMRT1, CYP17A1, SRD5A2,HSD17B3) MLPA Blood in EDTA 10 days
ENDMLP007 Growth Hormone Disorder - gene dosage (GH1, POU1F1/PIT1, PROP1, GHRHR, LHX3,LHX4, HESX1) MLPA Blood in EDTA 10 days
ENDMLP010 Congenital Adrenal Hyperplasia - deletions/ large rearrangements in CYP21A2 MLPA Blood in EDTA 10 days
ENDNGS011 Congenital Adrenal Hyperplasia (CAH) - full gene sequencing of CYP21A2 NGS Blood in EDTA 4-6 weeks
ENDNGS367 Congenital Adrenal Hyperplasia (CAH) Extended - full gene sequencing of CYP21A2, CYP11B1, HSD3B2 NGS Blood in EDTA 4-6 weeks
ENDMLP025 Osteogenesis Imperfecta - gene dosage (COL1A1 + COL1A2) MLPA Blood in EDTA 10 days
MSDNGS251 Osteogenesis Imperfecta - sequencing panel NGS Blood in EDTA 4-6 weeks
MSDMNG252 Comprehensive Osteogenesis imperfecta genetic analysis (Dosage + Sequencing) MLPA + NGS Blood in EDTA 4-6 weeks
MSDNGS253 Next Generation Sequencing Panel for Osteogenesis imperfecta and disorders of decreased bone density NGS Blood in EDTA 4-6 weeks
ENDQPC028 Achondroplasia common mutation study (FGFR3 G380R i.e. G1138A/C) ARMS real time PCR Blood in EDTA 2 days
ENDQPC149 Hypochondroplasia common mutation study (FGFR3 N450K i.e. C1620A/G) ARMS real time PCR Blood in EDTA 4-6 weeks
ENDQPC151 Achondroplasia (FGFR3 G380R ie. G1138A/C) + Hypochondroplasia (FGFR3N450K ie. C1620A/G) common mutations study ARMS real time PCR Blood in EDTA 4-6 weeks
ENDMLP155 SHOX gene analysis for short stature - gene dosage MLPA Blood in EDTA 10 days
ENDSEQ156 SHOX full gene sequencing for short stature CE-Seq Blood in EDTA 10 days
ENDMLC157 SHOX comprehensive gene analysis for short stature MLPA + CE-Seq Blood in EDTA 14 days
PAEMLP201 Spinal Muscular Atrophy (SMA) - SMN1, SMN2 deletion, duplicationSpinal Muscular Atrophy (SMA) - SMN1, SMN2 deletion, duplication MLPA Blood in EDTA 10 days
ENDNGS306 Next Generation Sequencing Panel for Monogenic Diabetes NGS Blood in EDTA 4-6 weeks
ENDNGS171 Leptin and MC4R sequencing for Monogenic Obesity NGS Blood in EDTA 4-6 weeks
ENDPCR334 FTO Gene Polymorphism (rs9939609) for Obesity ARMS real time PCR Blood in EDTA 3 days
ENDSEQ172 LMNA gene sequencing for Progeria CE-Seq Blood in EDTA 10 days
ENDQPC145 Vitamin D Receptor (VDR) Polymorphisms (FokI, BsmI)Vitamin D Receptor (VDR) Polymorphisms (FokI, BsmI) ARMS real time PCR Blood in EDTA/plain 2 days
ENDSEQ194 Hereditary Vitamin D Dependent Rickets (VDR) Gene Sequencing CE-Seq Blood in EDTA 14 days
PAEQPC205 Cystic Fibrosis CFTR delF508 common mutation testing ARMS real time PCR Blood in EDTA 2 days
ENDNGS307 CFTR Full Gene Sequencing for Cystic Fibrosis NGS Blood in EDTA 4-6 weeks
ENDNGS308 Next Generation Sequencing Panel for Disorders of Sexual Development including Congenital Adrenal Hyperplasia NGS Blood in EDTA 4-6 weeks
ENDNGS309 Next Generation Sequencing Panel for Hypogonadotropic Hypogonadism NGS Blood in EDTA 4-6 weeks
MSDNGS254 Next Generation Sequencing Panel for Skeletal Dysplasia NGS Blood in EDTA 4-6 weeks
ONCNGS245 Next Generation Sequencing Panel for Bilateral Pheochromocytoma NGS Blood in EDTA 4-6 weeks
RARNGS310 Next Generation Sequencing Panel for Hearing Loss NGS Blood in EDTA 4-6 weeks
PAEMLP121 Craniofacial Disorder - gene dosage (FGFR1,FGFR2, FGFR3, TWIST1, MSX2, ALX1, ALX3,ALX4, EFNB1, RUNX2) MLPA Blood in EDTA 10 days
PAENGS311 Next Generation Sequencing Panel for Craniosynostosis NGS Blood in EDTA 4-6 weeks
MSDNGS257 Next Generation Sequencing Panel for Infantile Hypotonia NGS Blood in EDTA 4-6 weeks
MSDNGS258 Next Generation Sequencing Panel for Congenital Muscular Dystrophy NGS Blood in EDTA 4-6 weeks
MSDNGS259 Next Generation Sequencing Panel for Congenital Myopathy NGS Blood in EDTA 4-6 weeks
MSDNGS260 Next Generation Sequencing Panel for Limb Girdle Muscular Dystrophy NGS Blood in EDTA 4-6 weeks
ENDNGS312 Next Generation Sequencing Panel for Bardet Biedl Syndrome NGS Blood in EDTA 4-6 weeks
NEPNGS273 Next Generation Sequencing Panel for Ciliopathies NGS Blood in EDTA 4-6 weeks
PAENGS313 Next Generation Sequencing Panel for Leukodystrophy NGS Blood in EDTA 4-6 weeks
PAENGS314 Next Generation Sequencing Panel for Lysosomal Storage Disorders NGS Blood in EDTA 4-6 weeks
PAENGS315 Next Generation Sequencing Panel for Neuronal Cereoid Lipofuscinosis NGS Blood in EDTA 4-6 weeks
PAENGS316 Next Generation Sequencing Panel for Early Infantile Epileptic Encephalopathies NGS Blood in EDTA 4-6 weeks
PAENGS317 Next Generation Sequencing Panel for Peroxisomal Disorders NGS Blood in EDTA 4-6 weeks
MSDNGS262 Next Generation Sequencing Panel for Short Rib Polydactyly NGS Blood in EDTA 4-6 weeks
HAENGS231 Next Generation Sequencing Panel for Genetic Hemolytic Anemia NGS Blood in EDTA 4-6 weeks
HAENGS230 Next Generation Sequencing Panel for Fanconi Anemia NGS Blood in EDTA 4-6 weeks
HAENGS233 Next Generation Sequencing Panel for Pure Red Cell Aplasia NGS Blood in EDTA 4-6 weeks
HAENGS232 Next Generation Sequencing Panel for Primary Immunodeficiency Disorders NGS Blood in EDTA 4-6 weeks
PAENGS318 Next Generation Sequencing Panel for Lissencephaly NGS Blood in EDTA 4-6 weeks
PAENGS319 Next Generation Sequencing Panel for Microcephaly NGS Blood in EDTA 4-6 weeks
PAENGS320 Next Generation Sequencing Panel for Congenital Disorders of Glycosylation NGS Blood in EDTA 4-6 weeks
PAENGS321 Next Generation Sequencing Panel for Primary Lymphedema NGS Blood in EDTA 4-6 weeks
PAENGS322 Next Generation Sequencing Panel for Noonan syndrome and other RAS-MAPK Pathway Disorders NGS Blood in EDTA 4-6 weeks
PAENGS323 Next Generation Sequencing Panel for Chondrodysplasia punctata NGS Blood in EDTA 4-6 weeks
NEPNGS224 Next Generation Sequencing Panel for atypical Hemolytic Uremic Syndrome NGS Blood in EDTA 4-6 weeks
NEPNGS267 Next Generation Sequencing Panel for Steroid Resistant Nephrotic Syndrome NGS Blood in EDTA 4-6 weeks
RARNGS324 Next Generation Sequencing Panel for Albinism and other Hypopigmentation Disorders NGS Blood in EDTA 4-6 weeks
RARNGS325 Next Generation Sequencing Panel for Epidermolysis bullosa NGS Blood in EDTA 4-6 weeks
RARNGS326 Next Generation Sequencing Panel for Dyskeratosis congenita NGS Blood in EDTA 4-6 weeks
RARNGS327 Next Generation Sequencing Panel for Ichthyosis NGS Blood in EDTA 4-6 weeks
RARNGS328 Next Generation Sequencing Panel for Joubert syndrome NGS Blood in EDTA 4-6 weeks
RARNGS329 Next Generation Sequencing Panel for Primary ciliary kinesia NGS Blood in EDTA 4-6 weeks
RARNGS330 Overgrowth Syndromes (Next Generation Sequencing Panel) NGS Blood in EDTA 4-6 weeks
PAEARR348 Cytogenetic microarray for copy number variations in Autism spectrum disorders (Whole genome) Microarray Blood in EDTA 2 weeks
PAEARR349 Cytogenetic microarray for microdeletions/ duplications in Idiopathic intellectual disability/ developmental delay/ malformation syndromes (Whole genome) Microarray Blood in EDTA 2 weeks
PAEARR350 Cytogenetic microarray for microdeletions/ duplications in Idiopathic intellectual disability/ developmental delay (Targeted regions) Microarray Blood in EDTA 2 weeks

Infectious Diseases

Test No. Test Name Analytical Technique Sample required TAT
INDQPC093 Pan Bacterial (16s rRNA) detection Real time PCR (SYBR) EDTA Blood, Body fluids, Pus, CSF, Occular Fluid in sterile containers, FFPE Blocks 2 days
INDSEQ094 Pan Bacterial (16s rRNA) detection and identification PCR + CE-Sequencing EDTA Blood, Body fluids, Pus, CSF, Occular Fluid in sterile containers, FFPE Blocks 3-4 days
INDNGS339 Pan Bacterial (16s rRNA) metagenomics detection and identification - High Depth sequencing PCR + NGS EDTA Blood, Body fluids, Pus, CSF, Occular Fluid in sterile containers, FFPE Blocks 3-4 weeks
INDQPC095 Pan Fungal (18s rRNA) detection Real time PCR (SYBR) EDTA Blood, Body fluids, Pus, CSF, Occular Fluid in sterile containers, FFPE Blocks 2 days
INDSEQ096 Pan Fungal (18s rRNA) detection and identification PCR + CE-Sequencing EDTA Blood, Body fluids, Pus, CSF, Occular Fluid in sterile containers, FFPE Blocks 3-4 days
INDNGS340 Pan Fungal (18s rRNA) detection and identification - High Depth Sequencing PCR + NGS EDTA Blood, Body fluids, Pus, CSF, Occular Fluid in sterile containers, FFPE Blocks 3-4 weeks
INDQPC099 Pan Bacteria and Pan Fungal detection Real time PCR (SYBR) EDTA Blood, Body fluids, Pus, CSF, Occular Fluid in sterile containers, FFPE Blocks 2 days
INDSEQ265 Pan Bacterial and Pan Fungal detection and identification PCR + CE-Sequencing EDTA Blood, Body fluids, Pus, CSF, Occular Fluid in sterile containers, FFPE Blocks 3-4 days
INGNGS341 Pan Bacterial and Pan Fungal detection and identification - High Depth Sequencing PCR + NGS EDTA Blood, Body fluids, Pus, CSF, Occular Fluid in sterile containers, FFPE Blocks 3-4 weeks
INDQPC196 MTB/RIF (Mycobacterium tuberculosis with Rifampicin resistance) rapid GeneXpert test Cepheid GeneXpert Raw sputum/ conc sediments prepared from sputum 1 day
INDQPC054 Cytomegalovirus (CMV) detection qualitative Taqman real time PCR Blood in EDTA/ EDTA plasma in plain bulb 2 days
INDQPC144 Cytomegalovirus (CMV) quantitation - CE-IVD marked assay Taqman real time PCR Blood in EDTA/ EDTA plasma in plain bulb 2 days
INDQPC374 Cytomegalovirus (CMV) quantitation Taqman real time PCR Blood in EDTA/ EDTA plasma in plain bulb 2 days
INDQPC199 Cytomegalovirus (CMV) quantitation from Urine Taqman real time PCR Urine in GPDX buffer 2 days
INDQPC173 Epstein-Barr Virus (EBV) quantitative Taqman real time PCR Blood in EDTA/ EDTA plasma in plain bulb/ Urine (in GPDX preservative buffer*) 2 days
INDQPC174 Epstein-Barr Virus (EBV) qualitative Taqman real time PCR Blood in EDTA/ EDTA plasma in plain bulb/ Urine (in GPDX preservative buffer*) 2 days
INDQPC175 Parvo virus B19 quantitative Taqman real time PCR Blood in EDTA/ EDTA plasma in plain bulb/ Urine (in GPDX preservative buffer*) 2 days
INDQPC176 Parvo virus B19 qualitative Taqman real time PCR Blood in EDTA/ EDTA plasma in plain bulb/ Urine (in GPDX preservative buffer*) 2 days
INDQPC177 BK virus quantitative Taqman real time PCR Blood in EDTA/ EDTA plasma in plain bulb/ Urine (in GPDX preservative buffer*) 2 days
INDQPC178 BK virus qualitative Taqman real time PCR Blood in EDTA/ EDTA plasma in plain bulb/ Urine (in GPDX preservative buffer*) 2 days
INDQPC359 Dengue, Chikungunya Multiplex panel Multiplex Taqman real time PCR Blood in EDTA / EDTA plasma in plain bulb 2 days
INDQPC179 Tropical Fever Multiplex (Dengue virus, Chikungunya virus, West Nile virus, Plasmodium spp., Rickettsia spp., Leptospira spp., and Salmonella spp.) Multiplex Taqman real time PCR Blood in EDTA / EDTA plasma in plain bulb 2 days
INDQPC210 Tropical Fever Panel 1 (Dengue virus, West Nile virus, Rickettsia spp) Multiplex Taqman real time PCR Blood in EDTA 2 days
INDQPC211 Tropical Fever Panel 2 (Chikungunya virus, Plasmodium spp., Leptospira spp) Multiplex Taqman real time PCR Blood in EDTA 2 days
INDQPC193 Viral Meningitis Panel (Cytomegalovirus, Epstein-Barr virus, Adenovirus, Herpes simplex virus 1, 2, Varicella-Zoster virus, Enterovirus, Parechovirus, Human Herpes virus 6, 7, and Parvovirus B19) Multiplex Taqman real time PCR Cerebrospinal fluid, Blood in EDTA 2 days
INDQPC206 Viral Panel 1 (Cytomegalovirus, Epstein-Barr virus, Adenovirus) Multiplex Taqman real time PCR Cerebrospinal fluid, Blood in EDTA 2 days
INDQPC207 Viral Panel 2 (Herpes simplex virus 1 & 2, Varicella-Zoster virus) Multiplex Taqman real time PCR Cerebrospinal fluid, Blood in EDTA 2 days
INDQPC208 Viral Panel 3 (Enterovirus, Parechovirus) Multiplex Taqman real time PCR Cerebrospinal fluid, Blood in EDTA 2 days
INDQPC209 Viral Panel 4 (Human Herpes virus 6 & 7, Parvovirus B19) Multiplex Taqman real time PCR Cerebrospinal fluid, Blood in EDTA 2 days
INDQPC213 Respiratory panel 1 (influenza A, influenza B, rhinovirus) Multiplex Taqman real time PCR Throat/ Nasal swabs, Bronchoalveolar lavage and sputum 2 days
INDQPC219 Respiratory panel 2 (Pneumocystis jirovecii/ PCP, Klebsiella pneumoniae, Legionella species, Salmonella species) Multiplex Taqman real time PCR Throat/ Nasal swabs, Bronchoalveolar lavage and sputum 2 days
INDQPC220 Respiratory panel 3 (influenza C, Moraxella catarrhalis, Bordetella spp.*, Haemophilus influenzae) Multiplex Taqman real time PCR Throat/ Nasal swabs, Bronchoalveolar lavage and sputum 2 days
INDQPC216 Respiratory panel 4 (parainfluenza virus 1, bocavirus,
Mycoplasma pneumoniae, human metapneumoviruses A and B)
Multiplex Taqman real time PCR Throat/ Nasal swabs, Bronchoalveolar lavage and sputum 2 days
INDQPC217 Respiratory panel 5 (respiratory syncytial viruses
A and B , adenovirus, enterovirus, parechovirus)
Multiplex Taqman real time PCR Throat/ Nasal swabs, Bronchoalveolar lavage and sputum 2 days
INDQPC218 Respiratory panel 6 (Chlamydia pneumoniae, Streptococcus pneumoniae, Haemophilus influenzae type B, Staphylococcus aureus) Multiplex Taqman real time PCR Throat/ Nasal swabs, Bronchoalveolar lavage and sputum 2 days
INDQPC221 Comprehensive Respiratory panel (All 21 pathogens listed above) Multiplex Taqman real time PCR Throat/ Nasal swabs, Bronchoalveolar lavage and sputum 2 days
INDQRT050 HIV-1 Viral Load by Real-time PCR RT Taqman real time PCR Blood in EDTA/ EDTA plasma in plain bulb 2 days
INDPCR049 Hepatitis B Virus (HBV) DNA detection qualitative RT Taqman real time PCR Blood in EDTA/ EDTA plasma in plain bulb 2 days
INDQPC052 Hepatitis B Virus (HBV) DNA quantitative (viral load) RT Taqman real time PCR Blood in EDTA/ EDTA plasma in plain bulb 2 days
INDQPC061 Hepatitis C Virus (HCV) RNA detection qualitative RT Taqman real time PCR Blood in EDTA/ EDTA plasma in plain bulb 2 days
INDQRT053 Hepatitis C Virus (HCV) RNA quantitative (viral load) RT Taqman real time PCR Blood in EDTA/ EDTA plasma in plain bulb 2 days

Nephrology

Test No. Test Name Analytical Technique Sample required TAT
NEPNGS223 Atypical Haemolytic Uraemic (aHUS) - gene dosage (CD46/MCP, CFI) MLPA Blood in EDTA 10 days
NEPMLP266 Atypical Haemolytic Uraemic (aHUS) - gene dosage (CFH, CFHR1, CFHR3, CFHR2,CFHR5) MLPA Blood in EDTA 10 days
NEPNGS224 Atypical Haemolytic Uraemic (aHUS) (13 gene Next Generation Sequencing Panel) NGS Blood in EDTA 4-6 weeks
NEPSEQ195 Steroid Resistant Nephrotic Syndrome (WT1gene mutation analysis - exons 8 and 9) PCR + Capillary Sequencing Blood in EDTA 10 days
NEPNGS267 Steroid Resistant Nephrotic Syndrome (SRNS) (21 gene Next Generation Sequencing Panel) NGS Blood in EDTA 4-6 weeks
NEPNGS268 Hyperoxaluria (Next Generation Sequencing of AGXT, GRHPR, or HOGA1) NGS Blood in EDTA 4-6 weeks
NEPNGS269 Autosomal Dominant Polycystic Kidney Disease (Next Generation Sequencing ofPKD1 and PKD2) NGS Blood in EDTA 4-6 weeks
NEPNGS270 Wilms Tumor (Next Generation Sequencing of the WT1 gene) NGS Blood in EDTA 4-6 weeks
NEPNGS271 Renal Cell Carcinoma (gene panel) NGS Blood in EDTA 4-6 weeks
NEPNGS272 Von Hippel Lindau Syndrome (Next Generation Sequencing of the VHL gene) NGS Blood in EDTA 4-6 weeks
NEPNGS273 Sequencing Panel for Ciliopathies NGS Blood in EDTA 4-6 weeks
NEPNGS274 Alport syndrome (Next Generation Sequencing of COL4A5, COL4A4, COL4A3) NGS Blood in EDTA 4-6 weeks
NEPNGS275 Panel testing for Cystic Renal Disease NGS Blood in EDTA 4-6 weeks
NEPNGS276 Joubert syndrome (Next Generation Sequencing Panel) NGS Blood in EDTA 4-6 weeks
INDQPC061 Hepatitis C Virus (HCV) RNA detection qualitative Reverse Transcription Taqman real time PCR Blood in EDTA/ EDTA plasma in plain bulb 1-2 days
INDQRT053 Hepatitis C Virus (HCV) RNA quantitative (viral load) Reverse Transcription Taqman real time PCR Blood in EDTA/ EDTA plasma in plain bulb 1-2 days
INDQPC054 Cytomegalovirus (CMV) detection qualitative Taqman real time PCR Blood in EDTA/ EDTA plasma in plain bulb 2 days
INDQPC144 Cytomegalovirus (CMV) quantitation - CE-IVD marked assay Taqman real time PCR Blood in EDTA/ EDTA plasma in plain bulb 2 days
INDQPC374 Cytomegalovirus (CMV) quantitation Taqman real time PCR Blood in EDTA/ EDTA plasma in plain bulb 2 days
INDQPC199 Cytomegalovirus (CMV) quantitation from Urine Taqman real time PCR Urine in GPDX buffer 2 days
INDQPC174 Epstein-Barr Virus (EBV) qualitative Taqman real time PCR Blood in EDTA/ EDTA plasma in plain bulb 1-2 days
INDQPC173 Epstein-Barr Virus (EBV) detection quantitative (viral load) Taqman real time PCR Blood in EDTA/ EDTA plasma in plain bulb 1-2 days
INDQPC175 Parvo virus B19 detection qualitative Taqman real time PCR Blood in EDTA/ EDTA plasma in plain bulb 1-2 days
INDQPC176 Parvo virus B19 quantitative (viral load) Taqman real time PCR Blood in EDTA/ EDTA plasma in plain bulb 1-2 days
INDQPC177 BK virus (BKV) detection qualitative Taqman real time PCR Blood in EDTA/ EDTA plasma in plain bulb 1-2 days
INDQPC178 BK virus (BKV) quantitative (viral load) Taqman real time PCR Blood in EDTA/ EDTA plasma in plain bulb 1-2 days

Rare Diseases

Test No. Test Name Analytical Technique Sample required TAT
RARMLP277 Intellectual Disability Targeted Copy Number Variation Panel - 1 (common microdeletion/ duplication syndromes) MLPA Blood in EDTA 10 days
RARMLP278 Intellectual Disability Targeted Copy Number Variation Panel - 2 (sub-telomeric regions) MLPA Blood in EDTA 10 days
RARMLP279 1p36 deletion syndrome MLPA Blood in EDTA 10 days
RARMLP280 2p16 microdeletion MLPA Blood in EDTA 10 days
RARMLP281 2q23 microdeletion (MBD5) MLPA Blood in EDTA 10 days
RARMLP282 2q33 microdeletion (SATB) MLPA Blood in EDTA 10 days
RARMLP283 3q29 microdeletion MLPA Blood in EDTA 10 days
RARMLP284 9q22.3 microdeletion MLPA Blood in EDTA 10 days
RARMLP285 15q24 deletion syndrome MLPA Blood in EDTA 10 days
RARMLP286 17q21 microdeletion MLPA Blood in EDTA 10 days
RARMLP287 22q13 (Phelan-McDermid syndrome) MLPA Blood in EDTA 10 days
RARMLP288 5p15 microdeletion (Cri du Chat syndrome) MLPA Blood in EDTA 10 days
RARMLP289 22q11 microdeletion (DiGeorge syndrome) MLPA Blood in EDTA 10 days
RARMLP290 Langer-Giedion syndrome MLPA Blood in EDTA 10 days
RARMLP291 17p microdeletion (Miller-Dieker syndrome) MLPA Blood in EDTA 10 days
RARMLP292 NF1 microdeletion syndrome MLPA Blood in EDTA 10 days
RARMLP293 15q microdeletion (Prader Willi/ Angelman syndrome) MLPA Blood in EDTA 10 days
RARMLP294 MECP2/ Xq28 duplication MLPA Blood in EDTA 10 days
RARMLP295 Rubinstein-Taybi syndrome MLPA Blood in EDTA 10 days
RARMLP296 Smith-Magenis syndrome MLPA Blood in EDTA 10 days
RARMLP297 5q35.3 microdeletion (Sotos syndrome) MLPA Blood in EDTA 10 days
RARMLP298 Williams syndrome MLPA Blood in EDTA 10 days
RARMLP299 4p16.3 microdeletion (Wolf-Hirschhorn syndrome) MLPA Blood in EDTA 10 days
ENDNGS308 Disorders of Sexual Development including Congenital Adrenal Hyperplasia NGS Blood in EDTA 4-6 weeks
ENDNGS309 Next Generation Sequencing Panel for Hypogonadotropic Hypogonadism NGS Blood in EDTA 4-6 weeks
RARNGS302 Monogenic Obesity NGS Blood in EDTA 4-6 weeks
MSDNGS254 Next Generation Sequencing Panel for Skeletal Dysplasia NGS Blood in EDTA 4-6 weeks
MSDNGS255 Next generation Sequencing Panel for Polydactyly NGS Blood in EDTA 4-6 weeks
RARNGS305 Next generation Sequencing Panel for Ectodermal dysplasia NGS Blood in EDTA 4-6 weeks
MSDNGS253 Osteogenesis imperfecta and disorders of decreased bone density NGS Blood in EDTA 4-6 weeks
MSDNGS256 Osteopetrosis and disorders of increased bone density NGS Blood in EDTA 4-6 weeks
ONCNGS245 Next Generation Sequencing for Pheochromocytoma (VHL, RET, SDHB,SDHC, SDHD, GDNF, TMEM127, MAX andKIF1B) NGS Blood in EDTA 4-6 weeks
ENDNGS306 Next Generation Sequencing Panel for Monogenic Diabetes NGS Blood in EDTA 4-6 weeks
RARNGS310 Next Generation Sequencing Panel for Hearing Loss NGS Blood in EDTA 4-6 weeks
RARNGS331 Next generation sequencing for Retinitis pigmentosa NGS Blood in EDTA 4-6 weeks
PAENGS311 Next Generation Sequencing Panel for Craniosynostosis NGS Blood in EDTA 4-6 weeks
MSDNGS257 Next Generation Sequencing Panel for Infantile Hypotonia (includes SMA) NGS + MLPA Blood in EDTA 4-6 weeks
MSDNGS258 Next Generation Sequencing Panel for Congenital Muscular Dystrophy NGS Blood in EDTA 4-6 weeks
MSDNGS259 Next Generation Sequencing Panel for Congenital Myopathy NGS Blood in EDTA 4-6 weeks
MSDNGS260 Next Generation Sequencing Panel for Limb Girdle Muscular Dystrophy NGS Blood in EDTA 4-6 weeks
NEPNGS275 Panel testing for Cystic Renal Disease NGS Blood in EDTA 4-6 weeks
ENDNGS312 Next Generation Sequencing Panel for Bardet Biedl Syndrome NGS Blood in EDTA 4-6 weeks
NEPNGS273 Next Generation Sequencing Panel for Ciliopathies NGS Blood in EDTA 4-6 weeks
PAENGS313 Next Generation Sequencing Panel for Leukodystrophy NGS Blood in EDTA 4-6 weeks
PAENGS314 Next Generation Sequencing Panel for Lysosomal Storage Disorders NGS Blood in EDTA 4-6 weeks
PAENGS315 Next Generation Sequencing Panel for Neuronal Cereoid Lipofuscinosis NGS Blood in EDTA 4-6 weeks
PAENGS316 Next Generation Sequencing Panel for Early Infantile Epileptic Encephalopathies NGS Blood in EDTA 4-6 weeks
MSDNGS261 Next generation Sequencing Panel for Peripheral neuropathy NGS Blood in EDTA 4-6 weeks
PAENGS317 Next Generation Sequencing Panel for Peroxisomal Disorders NGS Blood in EDTA 4-6 weeks
MSDNGS262 Next Generation Sequencing Panel for Short Rib Polydactyly NGS Blood in EDTA 4-6 weeks
HAENGS231 Next Generation Sequencing Panel for Genetic Hemolytic Anemia NGS Blood in EDTA 4-6 weeks
HAENGS230 Next Generation Sequencing Panel for Fanconi Anemia NGS Blood in EDTA 4-6 weeks
HAENGS233 Next Generation Sequencing Panel for Pure Red Cell Aplasia NGS Blood in EDTA 4-6 weeks
HAENGS232 Next Generation Sequencing Panel for Primary Immunodeficiency Disorders NGS Blood in EDTA 4-6 weeks
PAENGS318 Next Generation Sequencing Panel for Lissencephaly NGS Blood in EDTA 4-6 weeks
PAENGS319 Next Generation Sequencing Panel for Microcephaly NGS Blood in EDTA 4-6 weeks
RARNGS332 Next Generation Sequencing Panel for Non Triplet repeat ataxia NGS Blood in EDTA 4-6 weeks
PAENGS320 Next Generation Sequencing Panel for Congenital Disorders of Glycosylation NGS Blood in EDTA 4-6 weeks
PAENGS321 Next Generation Sequencing Panel for Primary Lymphedema NGS Blood in EDTA 4-6 weeks
MSDNGS263 Next generation Sequencing Panel for Ehler Danlos syndrome NGS Blood in EDTA 4-6 weeks
PAENGS322 Next Generation Sequencing Panel for Noonan syndrome and other RAS-MAPK Pathway Disorders NGS Blood in EDTA 4-6 weeks
PAENGS323 Next Generation Sequencing Panel for Chondrodysplasia punctata NGS Blood in EDTA 4-6 weeks
NEPNGS224 Next Generation Sequencing Panel for atypical Hemolytic Uremic Syndrome NGS Blood in EDTA 4-6 weeks
NEPNGS267 Next Generation Sequencing Panel for Steroid Resistant Nephrotic Syndrome NGS Blood in EDTA 4-6 weeks
RARNGS324 Next Generation Sequencing Panel for Albinism and other Hypopigmentation Disorders NGS Blood in EDTA 4-6 weeks
RARNGS325 Next Generation Sequencing Panel for Epidermolysis bullosa NGS Blood in EDTA 4-6 weeks
RARNGS326 Next Generation Sequencing Panel for Dyskeratosis congenita NGS Blood in EDTA 4-6 weeks
RARNGS333 Next Generation Sequencing Panel for Cutis Laxa NGS Blood in EDTA 4-6 weeks
RARNGS327 Next Generation Sequencing Panel for Ichthyosis NGS Blood in EDTA 4-6 weeks
RARNGS328 Next Generation Sequencing Panel for Joubert syndrome NGS Blood in EDTA 4-6 weeks
RARNGS329 Next Generation Sequencing Panel for Primary ciliary kinesia NGS Blood in EDTA 4-6 weeks
PAEARR348 Cytogenetic microarray for copy number variations in Autism spectrum disorders (Whole genome) Microarray Blood in EDTA, Antenatal sample 2 weeks
PAEARR349 Cytogenetic microarray for microdeletions/ duplications in Idiopathic intellectual disability/ developmental delay/ malformation syndromes (Whole genome) Microarray Blood in EDTA, Antenatal sample 2 weeks
PAEARR350 Cytogenetic microarray for microdeletions/ duplications in Idiopathic intellectual disability/ developmental delay (Targeted regions) Microarray Blood in EDTA, Antenatal sample 2 weeks
RPDARR351 Cytogenetic microarray for deletions/ duplications in foetus with multiple congenital abnormalies Microarray Blood in EDTA, Antenatal sample 2 weeks
RPDARR352 Cytogenetic microarray for targeted microdeletions/ duplications in the foetus with malformations Microarray Blood in EDTA, Antenatal sample 2 weeks
RPDARR353 Cytogenetic microarray (for aneuploidy and deletions/ duplications) in Products of Conception or still births Microarray Blood in EDTA, Antenatal sample 2 weeks
RARARR354 Detection of regions with loss of heterozygosity by SNP array Microarray Blood in EDTA, Antenatal sample 2 weeks
RARARR355 Cytogenetic microarray for microdeletion/ duplication at breakpoints in chromosomal rearrangements Microarray Blood in EDTA, Antenatal sample 2 weeks
RARARR356 Detection of Uniparental disomy in Imprinting disorders by SNP array Microarray Blood in EDTA, Antenatal sample 2 weeks
NEUNGS357 Next generation sequencing for Tuberous Sclerosis NGS Blood in EDTA 4-6 weeks
NEUNGS358 Next generation sequencing for Neurofibromatosis NGS Blood in EDTA 4-6 weeks

Neurology and Paediatric Neurology

Test No. Test Name Analytical Technique Sample required TAT
PAEMET143 Prader-Willi/ Angelman (15q11 region – gene dosage & methylation) MS-MLPA Blood in EDTA 10 days
PAEMET148 Fragile-X Syndrome (FMR1 – gene dosage & methylation) MS-MLPA Blood in EDTA 10 days
PAEPCR371 Fragile-X Syndrome Triple Prime PCR TP-PCR Blood in EDTA 4 weeks
GYNMLP132 Common Aneuploidies (Trisomy 13, 18, 21 + X & Y) MLPA Blood in EDTA 10 days
NEUMLP130 Duchenne Muscular Dystrophy (deletions/ duplications of 79 exons of dystrophin / DMDgene) MLPA Blood in EDTA 10 days
MSDNGS250 Duchenne Muscular Dystrophy (Next Generation Sequencing of full dystrophin / DMD gene) NGS Blood in EDTA 4-6 weeks
PAEMLP121 Craniofacial Disorder - gene dosage (FGFR1,FGFR2, FGFR3, TWIST1, MSX2, ALX1, ALX3,ALX4, EFNB1, RUNX2) MLPA Blood in EDTA 10 days
PAEMLP201 Spinal Muscular Atrophy (SMA) - SMN1, SMN2 deletion, duplication MLPA Blood in EDTA 10 days
MSDNGS254 Next Generation Sequencing Panel for Skeletal Dysplasia NGS Blood in EDTA 4-6 weeks
MSDNGS255 Next generation Sequencing Panel for Polydactyly NGS Blood in EDTA 4-6 weeks
MSDNGS256 Next generation Sequencing Panel for Osteopetrosis and disorders of increased bone density NGS Blood in EDTA 4-6 weeks
MSDNGS257 Next Generation Sequencing Panel for Infantile Hypotonia NGS Blood in EDTA 4-6 weeks
MSDNGS258 Next Generation Sequencing Panel for Congenital Muscular Dystrophy NGS Blood in EDTA 4-6 weeks
MSDNGS259 Next Generation Sequencing Panel for Congenital Myopathy NGS Blood in EDTA 4-6 weeks
MSDNGS260 Next Generation Sequencing Panel for Limb Girdle Muscular Dystrophy NGS Blood in EDTA 4-6 weeks
MSDNGS261 Next generation Sequencing Panel for Peripheral neuropathy NGS Blood in EDTA 4-6 weeks
MSDNGS262 Next generation Sequencing Panel for Short rib polydactyly NGS Blood in EDTA 4-6 weeks
RARMLP277 Intellectual Disability Targeted Copy Number Variation Panel - 1 (common microdeletion/ duplication syndromes) MLPA Blood in EDTA 10 days
RARMLP278 Intellectual Disability Targeted Copy Number Variation Panel - 2 (sub-telomeric regions) MLPA Blood in EDTA 10 days
RARMLP279 1p36 deletion syndrome MLPA Blood in EDTA 10 days
RARMLP280 2p16 microdeletion MLPA Blood in EDTA 10 days
RARMLP281 2q23 microdeletion (MBD5) MLPA Blood in EDTA 10 days
RARMLP282 2q33 microdeletion (SATB) MLPA Blood in EDTA 10 days
RARMLP283 3q29 microdeletion MLPA Blood in EDTA 10 days
RARMLP284 9q22.3 microdeletion MLPA Blood in EDTA 10 days
RARMLP285 15q24 deletion syndrome MLPA Blood in EDTA 10 days
RARMLP286 17q21 microdeletion MLPA Blood in EDTA 10 days
RARMLP287 22q13 (Phelan-McDermid syndrome) MLPA Blood in EDTA 10 days
RARMLP288 5p15 microdeletion (Cri du Chat syndrome) MLPA Blood in EDTA 10 days
RARMLP289 22q11 microdeletion (DiGeorge syndrome) MLPA Blood in EDTA 10 days
RARMLP290 Langer-Giedion syndrome MLPA Blood in EDTA 10 days
RARMLP291 17p microdeletion (Miller-Dieker syndrome) MLPA Blood in EDTA 10 days
RARMLP292 NF1 microdeletion syndrome MLPA Blood in EDTA 10 days
RARMLP293 15q microdeletion (Prader Willi/ Angelman syndrome) MLPA Blood in EDTA 10 days
RARMLP294 MECP2/ Xq28 duplication MLPA Blood in EDTA 10 days
RARMLP295 Rubinstein-Taybi syndrome MLPA Blood in EDTA 10 days
RARMLP296 Smith-Magenis syndrome MLPA Blood in EDTA 10 days
RARMLP297 5q35.3 microdeletion (Sotos syndrome) MLPA Blood in EDTA 10 days
RARMLP298 Williams syndrome MLPA Blood in EDTA 10 days
RARMLP299 4p16.3 microdeletion (Wolf-Hirschhorn syndrome) MLPA Blood in EDTA 10 days
PAENGS311 Next Generation Sequencing Panel for Craniosynostosis NGS Blood in EDTA 4-6 weeks
NEPNGS275 Panel testing for Cystic Renal Disease NGS Blood in EDTA 4-6 weeks
ENDNGS312 Next Generation Sequencing Panel for Bardet Biedl Syndrome NGS Blood in EDTA 4-6 weeks
NEPNGS273 Next Generation Sequencing Panel for Ciliopathies NGS Blood in EDTA 4-6 weeks
PAENGS313 Next Generation Sequencing Panel for Leukodystrophy NGS Blood in EDTA 4-6 weeks
PAENGS314 Next Generation Sequencing Panel for Lysosomal Storage Disorders NGS Blood in EDTA 4-6 weeks
PAENGS315 Next Generation Sequencing Panel for Neuronal Cereoid Lipofuscinosis NGS Blood in EDTA 4-6 weeks
PAENGS316 Next Generation Sequencing Panel for Early Infantile Epileptic Encephalopathies NGS Blood in EDTA 4-6 weeks
PAENGS317 Next Generation Sequencing Panel for Peroxisomal Disorders NGS Blood in EDTA 4-6 weeks
PAENGS318 Next Generation Sequencing Panel for Lissencephaly NGS Blood in EDTA 4-6 weeks
PAENGS319 Next Generation Sequencing Panel for Microcephaly NGS Blood in EDTA 4-6 weeks
RARNGS332 Next Generation Sequencing Panel for Non Triplet repeat ataxia NGS Blood in EDTA 4-6 weeks
PAENGS320 Next Generation Sequencing Panel for Congenital Disorders of Glycosylation NGS Blood in EDTA 4-6 weeks
PAENGS321 Next Generation Sequencing Panel for Primary Lymphedema NGS Blood in EDTA 4-6 weeks
PAENGS322 Next Generation Sequencing Panel for Noonan syndrome and other RAS-MAPK Pathway Disorders NGS Blood in EDTA 4-6 weeks
RARNGS328 Next Generation Sequencing Panel for Joubert syndrome NGS Blood in EDTA 4-6 weeks
RARNGS329 Next Generation Sequencing Panel for Primary ciliary kinesia NGS Blood in EDTA 4-6 weeks
PAEARR348 Cytogenetic microarray (Genome-wide deletions or duplications) in Autism spectrum disorders Microarray Blood in EDTA, Antenatal sample 2 weeks
PAEARR349 Cytogenetic microarray for copy number variations in Autism spectrum disorders (Whole genome) Microarray Blood in EDTA, Antenatal sample 2 weeks
PAEARR350 Cytogenetic microarray for microdeletions/ duplications in Idiopathic intellectual disability/ developmental delay/ malformation syndromes (Whole genome) Microarray Blood in EDTA, Antenatal sample 2 weeks
RPDARR351 Cytogenetic microarray for microdeletions/ duplications in Idiopathic intellectual disability/ developmental delay (Targeted regions) Microarray Blood in EDTA, Antenatal sample 2 weeks
RPDARR352 Cytogenetic microarray for deletions/ duplications in foetus with multiple congenital abnormalies Microarray Blood in EDTA, Antenatal sample 2 weeks
RPDARR353 Cytogenetic microarray for targeted microdeletions/ duplications in the foetus with malformations Microarray Blood in EDTA, Antenatal sample 2 weeks
RARARR354 Cytogenetic microarray (for aneuploidy and deletions/ duplications) in Products of Conception or still births Microarray Blood in EDTA, Antenatal sample 2 weeks
RARARR355 Cytogenetic microarray for microdeletion/ duplication at breakpoints in chromosomal rearrangements Microarray Blood in EDTA, Antenatal sample 2 weeks
RARARR356 Detection of Uniparental disomy in Imprinting disorders by SNP array Microarray Blood in EDTA, Antenatal sample 2 weeks
HAENGS234 Porphyrias by Next Generation Sequencing NGS Blood/ Bone marrow in EDTA 4-6 weeks
NEUNGS357 Next generation sequencing for Tuberous Sclerosis NGS Blood in EDTA 4-6 weeks
NEUNGS358 Next generation sequencing for Neurofibromatosis NGS Blood in EDTA 4-6 weeks

Next Generation Sequencing (NGS) Panels

Test No. Test Name Analytical Technique Sample required TAT
ONCNGS190 Germline Cancer Panel (94 gene germline cancer panel) NGS Blood in EDTA 4-6 weeks
ONCNGS249 Tumor Panel (Hotspots in 50 somatic cancer genes) NGS FFPE/ Tissue blocks 4-6 weeks
RARNGS363 Next generation sequencing (NGS) sub panel - upto 5 genes NGS Blood in EDTA 4-6 weeks
RARNGS364 Next generation sequencing (NGS) sub panel - 6 to 30 genes NGS Blood in EDTA 4-6 weeks
RARNGS365 Next generation sequencing (NGS) sub panel - 31 to 50 genes NGS Blood in EDTA 4-6 weeks
ENDNGS222 Clinical Exome Panel - 4800+ genes NGS Blood in EDTA 4-6 weeks
RARNGS370 Whole exome sequencing NGS Blood in EDTA 8-10 weeks

Reproductive Genetics

Test No. Test Name Analytical Technique Sample required TAT
RPDMLP304 MLPA for Aneuploidies (all chromosomes) in Products of Conception MLPA Products of Conception, Blood in EDTA 10 days
PAEARR348 Detection of Copy Number Variations in Autism spectrum disorder Microarray Blood in EDTA, Antenatal sample 2 weeks
PAEARR349 Detection of microdeletion/ duplications in Ideopathic intellectual disability (Whole genome) Microarray Blood in EDTA, Antenatal sample 2 weeks
PAEARR350 Detection of microdeletion/ duplications in Ideopathic intellectual diability (Targeted regions) Microarray Blood in EDTA, Antenatal sample 2 weeks
RPDARR351 Cytogenetic microarray for deletions/ duplications in foetus with multiple congenital abnormalies Microarray Blood in EDTA, Antenatal sample 2 weeks
RPDARR352 Cytogenetic microarray for targeted microdeletions/ duplications in the foetus with malformations Microarray Blood in EDTA, Antenatal sample 2 weeks
RPDARR353 Cytogenetic microarray (for aneuploidy and deletions/ duplications) in Products of Conception or still births (Whole genome) Microarray Blood in EDTA, Antenatal sample 2 weeks
RPDARR369 Cytogenetic microarray (for aneuploidy and deletions/ duplications) in Products of Conception or still births (Targeted regions) Microarray Blood in EDTA, Antenatal sample 2 weeks
HAESEQ031 Full HBB gene sequencing for beta Thalassemia NGS Blood in EDTA 3-4 weeks
HAESEQ034 Full HBB gene sequencing for beta Thalassemia + HPLC NGS + HPLC Blood in EDTA 3-4 weeks
HAESEQ031 Targeted (known) mutation detection in HBB gene with Maternal Cell Contamination for Prenatal samples Antenatal sample (CVS, Amniotic Fluid) Blood in EDTA 10 days
ONCNGS045 BRCause NGS Panel - Full sequencing of BRCA1 and BRCA2 NGS Blood in EDTA 4-6 weeks
ONCMLP203 BRCopy: BRCA1, BRCA2 and CHEK2 copy number variations and large gene rearrangements MLPA Blood in EDTA 10 days
ONCMNG372 BRComplementary: BRCause NGS Panel and BRCopy MLPA NGS, MLPA Blood in EDTA 4-6 weeks
ONCNGS046 BRComplete NGS Panel - Full sequencing of BRCA1, BRCA2, STK11, PTEN, TP53,PALB2, CDH1, ATM and CHEK2 + 17 additional genes NGS Blood in EDTA 4-6 weeks
ONCNGS225 BRComprehensive Panel: BRComplete NGS Panel and BRCopy MLPA Panel NGS, MLPA Blood in EDTA 4-6 weeks
NEUNGS357 Next generation sequencing for Tuberous Sclerosis NGS Blood in EDTA, Antenatal sample 4-6 weeks
NEUNGS358 Next generation sequencing for Neurofibromatosis NGS Blood in EDTA, Antenatal sample 4-6 weeks
RPDNGS366 PGSure - Preimplantation Genetic Screening (PGS) for ART (per embryo) NGS Embryo biopsy 4 weeks
RPDNGS367 PGSure Plus - Preimplantation Genetic Screening (PGS) for ART (per embryo) + embryo biopsy and vitrification NGS Embryo 4 weeks
RPDNGS373 PGD for chromosomal rearrangement/ submicroscopic chromosomal aberrations NGS Embryo biopsy 4 weeks
RPDNGS368 Pre-implantation Diagnostic (PGD) of single gene disorders like HBB, SMN1 etc NGS/ CE-Seq/ MLPA Embryo biopsy 4 weeks
HAEQPC133 Factor V Leiden (FVL R506Q/ G1691A) mutation analysis ARMS real time PCR Blood in EDTA 3 days
HAEQPC134 Factor II / Prothrombin (FII G20210A) mutation analysis ARMS real time PCR Blood in EDTA 7 days
RPDSEQ072 Maternal Cell Contamination CE-Seq Antenatal sample 5 days

Women's Health

Test No. Test Name Analytical Technique Sample required TAT
RPDMLP304 MLPA for Aneuploidies (all chromosomes) in Products of Conception MLPA Products of Conception, Blood in EDTA 10 days
PAEARR348 Detection of Copy Number Variations in Autism spectrum disorder Microarray Blood in EDTA, Antenatal sample 2 weeks
PAEARR349 Detection of microdeletion/ duplications in Ideopathic intellectual disability (Whole genome) Microarray Blood in EDTA, Antenatal sample 2 weeks
PAEARR350 Detection of microdeletion/ duplications in Ideopathic intellectual diability (Targeted regions) Microarray Blood in EDTA, Antenatal sample 2 weeks
RPDARR351 Cytogenetic microarray for deletions/ duplications in foetus with multiple congenital abnormalies Microarray Blood in EDTA, Antenatal sample 2 weeks
RPDARR352 Cytogenetic microarray for targeted microdeletions/ duplications in the foetus with malformations Microarray Blood in EDTA, Antenatal sample 2 weeks
RPDARR353 Cytogenetic microarray (for aneuploidy and deletions/ duplications) in Products of Conception or still births (Whole genome) Microarray Blood in EDTA, Antenatal sample 2 weeks
RPDARR369 Cytogenetic microarray (for aneuploidy and deletions/ duplications) in Products of Conception or still births (Targeted regions) Microarray Blood in EDTA, Antenatal sample 2 weeks
HAESEQ031 Full HBB gene sequencing for beta Thalassemia NGS Blood in EDTA 3-4 weeks
HAESEQ034 Full HBB gene sequencing for beta Thalassemia + HPLC NGS + HPLC Blood in EDTA 3-4 weeks
HAESEQ031 Targeted (known) mutation detection in HBB gene with Maternal Cell Contamination for Prenatal samples Antenatal sample (CVS, Amniotic Fluid) Blood in EDTA 10 days
ONCNGS045 BRCause NGS Panel - Full sequencing of BRCA1 and BRCA2 NGS Blood in EDTA 4-6 weeks
ONCMLP203 BRCopy: BRCA1, BRCA2 and CHEK2 copy number variations and large gene rearrangements MLPA Blood in EDTA 10 days
ONCMNG372 BRComplementary: BRCause NGS Panel and BRCopy MLPA NGS, MLPA Blood in EDTA 4-6 weeks
ONCNGS046 BRComplete NGS Panel - Full sequencing of BRCA1, BRCA2, STK11, PTEN, TP53,PALB2, CDH1, ATM and CHEK2 + 17 additional genes NGS Blood in EDTA 4-6 weeks
ONCNGS225 BRComprehensive Panel: BRComplete NGS Panel and BRCopy MLPA Panel NGS, MLPA Blood in EDTA 4-6 weeks
NEUNGS357 Next generation sequencing for Tuberous Sclerosis NGS Blood in EDTA, Antenatal sample 4-6 weeks
NEUNGS358 Next generation sequencing for Neurofibromatosis NGS Blood in EDTA, Antenatal sample 4-6 weeks
RPDNGS366 PGSure - Preimplantation Genetic Screening (PGS) for ART (per embryo) NGS Embryo biopsy 4 weeks
RPDNGS367 PGSure Plus - Preimplantation Genetic Screening (PGS) for ART (per embryo) + embryo biopsy and vitrification NGS Embryo 4 weeks
RPDNGS373 PGD for chromosomal rearrangement/ submicroscopic chromosomal aberrations NGS Embryo biopsy 4 weeks
RPDNGS368 Pre-implantation Diagnostic (PGD) of single gene disorders like HBB, SMN1 etc NGS/ CE-Seq/ MLPA Embryo biopsy 4 weeks
HAEQPC133 Factor V Leiden (FVL R506Q/ G1691A) mutation analysis ARMS real time PCR Blood in EDTA 3 days
HAEQPC134 Factor II / Prothrombin (FII G20210A) mutation analysis ARMS real time PCR Blood in EDTA 7 days
RPDSEQ072 Maternal Cell Contamination CE-Seq Antenatal sample 5 days

For a complete list of our tests, to request a requisition form or to discuss custom requirements please call us at
+91 96234 95511 or write to us by clicking here.

The team at GenePath Dx are highly committed and are able to respond to my unique testing needs time and time again.
Dr Vaman Khadilkar
MD (Paediatrics, DNB (Paediatrics), MRCP (UK), DCH (London), Consultant Paediatric Endocrinologist
© 2013 GenePath Dx. All rights reserved.