Paediatrics and Paediatric EndocrinologyHaematology/ Haemato-oncologyOncology (Solid Tumors)NephrologyNeurology and Paediatric NeurologyInfectious DiseasesReproductive and Women's Health
Test No.Test NameAnalytical techniqueSample requiredTAT
ENDMET188Russell-Silver/ Beckwith-Weidemann syndrome (chromosome 11p15 region) gene dosage and methylationMS-MLPABlood in EDTA 10 days
PAEMET143Prader-Willi/ Angelman (15q11 region – gene dosage & methylation)MS-MLPABlood in EDTA 10 days
PAEMET148Fragile-X Syndrome (FMR1 – gene dosage & methylation)MS-MLPABlood in EDTA 10 days
GYNMLP132Common Aneuploidies (Trisomy 13, 18, 21 + X & Y)MLPABlood in EDTA 10 days
NEUMLP130Duchenne Muscular Dystrophy - deletions/ duplications of 79 exons (DMD gene)MLPABlood in EDTA 10 days
ENDQPC003Ambiguous Genitalia - rapid resolution (SRY, DYS14)Taqman real time PCRBlood in EDTA 1 day
ENDNGS375DAX1/ NR0B1 gene sequencing for Congenital Adrenal HypoplasiaNGSBlood in EDTA 4-5 weeks
ENDMLP010Congenital Adrenal Hyperplasia - deletions/ large rearrangements in CYP21A2MLPABlood in EDTA 10 days
ENDNGS011Congenital Adrenal Hyperplasia (CAH) - full gene sequencing of CYP21A2NGSBlood in EDTA 4-5 weeks
ENDNGS404Congenital Adrenal Hyperplasia (CAH) - HSD3B2 (exons 1 and 2) by NGSNGSBlood in EDTA 4-5 weeks
ENDMLP025Osteogenesis Imperfecta - gene dosage (COL1A1 + COL1A2)MLPABlood in EDTA 10 days
ENDQPC028Achondroplasia common mutation study (FGFR3 G380R - G1138A/C)ARMS real time PCRBlood in EDTA 2 days
ENDNGS151Achondroplasia (FGFR3 G380R-G1138A/C) + Hypochondroplasia (FGFR3 N450K - C1620A/G) common mutations studyNGSBlood in EDTA 4-6 weeks
ENDMLP155SHOX gene analysis for short stature - gene dosageMLPABlood in EDTA 10 days
ENDNGS156SHOX full gene sequencing for short statureNGSBlood in EDTA 4-5 weeks
PAEMLP201Spinal Muscular Atrophy (SMA) - SMN1, SMN2 deletion, duplicationMLPABlood in EDTA 10 days
ENDNGS171Leptin and MC4R sequencing for Monogenic ObesityNGSBlood in EDTA 4-5 weeks
ENDPCR334FTO Gene Polymorphism (rs9939609) for ObesityARMS real time PCRBlood in EDTA 3 days
ENDSEQ172LMNA gene sequencing for ProgeriaCE-SeqBlood in EDTA 10 days
ENDQPC145Vitamin D Receptor (VDR) Polymorphisms (FokI, BsmI)ARMS real time PCRBlood in EDTA/plain2 days
PAESEQ379Cystic Fibrosis CFTR del F508 common mutation testingCE-SeqBlood in EDTA 15 days
RARNGS383Targeted (quantitative mosaic) mutation testing in GNAS gene for McCune-Albright syndromeNGSBlood in EDTA 4-5 weeks
ONCMLP389MLPA for Von Hippel Lindau (VHL) SyndromeMLPABlood in EDTA 10 days
NEPSEQ272Von Hippel Lindau Syndrome (Sequencing of exons 1, 2 and 3 of the VHL gene)CE-SeqBlood in EDTA2-3 weeks
ONCSEQ399Targeted sequencing in VHL gene (for family members at risk)CE-SeqBlood in EDTA 2 weeks
Test No.Test NameAnalytical TechniqueSample requiredTAT
HAEQPC033BCR-ABL t(9;22) translocation (Philadelphia Chromosome) Major (p210) quantitative (MRD)Reverse Transcription Taqman real time PCRBlood/ Bone marrow in EDTA2 days
HAEQPC200BCR-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 FISHReverse Transcription Taqman real time PCR, FISH (reflex)Blood/ Bone marrow in EDTA and Heparin3-7 days
HAEQPC400BCR-ABL-Any one of Minor p190 e1/a2, Micro p230 e19/a2, Variant e1/a3 translocation semi-quantitative (only when initial diagnosis done at GenePath Diagnosis)Reverse Transcription Taqman real time PCRBlood/ Bone marrow in EDTA4 days
HAENGS338BCR-ABL Tyrosine Kinase inhibitor resistance mutations (IRMA) including BCR-ABL quantitationNGSBlood/ Bone marrow in EDTA4-5 weeks
HAEQPC035Acute Lymphoblastic 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 PCRBlood/ Bone marrow in EDTA2 days
HAEQPC401Any one of BCR-ABL t(9;22), E2A-PBX2 t(1;19), TEL-AML t(12;21), MLL-AF4 t(4;11) translocations semi-quantitative (suggested only when initial diagnosis was carried out at GenePath Dx)Reverse Transcription Taqman real time PCRBlood/ Bone marrow in EDTA4 days
HAEQPC164Acute Myeloid Leukemia (AML) common translocations / inversion qualitative panel (ML1-ETO/em>, t(8;21), CBFB-MYH11 inv(16), PML-RARA t(15;17))Reverse Transcription Taqman real time PCRBlood/ Bone marrow in EDTA2 days
HAEQPC163Acute Promyelocytic Leukemia (APML) PML-RARA t(15,17) translocation qualitativeReverse Transcription Taqman real time PCRBlood/ Bone marrow in EDTA1 day
HAEQPC376Acute Promyelocytic Leukemia (APML) PML-RARA t(15,17) translocation semi-quantitativeReverse Transcription Taqman real time PCRBlood/ Bone marrow in EDTA1 day
HAEQPC402Any one of ML1-ETO t(8;21), CBFB-MYH11 inv(16) translocations semi-quantitative (suggested only when initial diagnosis was carried out at GenePath Dx)Reverse Transcription Taqman real time PCRBlood/ Bone marrow in EDTA4 days
HAENGS189FLT3 D835 - AML Prognostic MarkersCE-SeqBlood/ Bone marrow in EDTA5 days
HAEFRG394FLT3 ITD - AML Prognostic MarkerAFLP/ Fragment AnalysisBlood/ Bone marrow in EDTA5 days
HAEFRG184NPM1 exon 12 insertions and deletions - AML Prognostic MarkerAFLP/ Fragment AnalysisBlood/ Bone marrow in EDTA5 days
HAENGS182WT1 sequence analysis (exons 7 and 9) - AML Prognostic MarkersNGSBlood/ Bone marrow in EDTA4-5 weeks
HAEQPC137JAK2 (V617F)ARMS real time PCRBlood/ Bone marrow in EDTA2 days
HAENGS382JAK2 (V617F) Quantitative by NGSNGSBlood/ Bone marrow in EDTA4-5 weeks
HAENGS336Advanced Philadelphia -negative Chronic Myeloproliferative disorder panel [JAK2 (exon 12, 14), MPL (exon 10), CALR (exon 9)] High Depth SequencingNGSBlood/ Bone marrow in EDTA4-5 weeks
HAEPNG381Advanced Philadelphia negative Chronic Myeloproliferative disorder REFLEX panel [JAK2 V617F PCR reflexing to JAK2MPL (exon 10), CALR (exon 9) by NGS]ARMS real time PCR, NGSBlood/ Bone marrow in EDTA3-4 weeks
HAENGS388MYD88 quantitative mutation detection for Waldenstrom MacroglobulinemiaNGSBone marrow in EDTA, FFPE block/ Fresh tissue4-5 weeks
HAENGS384MYD88 and CXCR4 mutation detection for Waldenstrom MacroglobulinemiaNGSBone marrow in EDTA, FFPE block/ Fresh tissue4-5 weeks
HAENGS187UGT1A1 Promoter Sequencing for Gilbert's syndrome common mutations and Irinotecan toxicityNGSBlood in EDTA4-5 weeks
HAEQPC133Factor V Leiden (FVL R506Q/ G1691A) mutation analysisARMS real time PCRBlood in EDTA2 days
HAEQPC134Factor II / Prothrombin (FII G20210A) mutation analysisCE-SeqBlood in EDTA10 days
HAENGS152MTHFR two common mutations (A222V/C677T + E429A/A1298C)NGSBlood in EDTA4-5 weeks
HAEQPC138Thrombophilia common mutations panel (FVL G1691A, FII G20210A, MTHFR C677T + A1298C)ARMS real time PCR, CE-Seq, NGSBlood in EDTA4-5 weeks
HAENGS337Full HBB gene sequencing for Beta Thalassemia by Next Generation SequencingNGSBlood in EDTA, Cheek swab4-5 weeks
HAEPCR396Detection of IVS1-5 G>C mutation in HBB geneARMS real time PCRBlood in EDTA, Antenatal sample2-3 days
HAESEQ031Targeted (known) mutation detection in HBB gene with testing for Maternal Cell Contamination (MCC) for Prenatal samplesCE-Seq/ ARMS PCR + Fragment analysisAntenatal sample (CVS, Amniotic Fluid)10 days
HAESEQ342Sickle cell anemia (Capillary Sequencing)CE-SeqBlood in EDTA2 weeks
HAESEQ343Sickle cell anemia (Hb Electrophoresis + Capillary Sequencing)Hb Electrophoresis, CE-SeqBlood in EDTA2 weeks
HAESEQ397Targeted (known) sequencing in HBB gene for Beta ThalassemiaCE-SeqBlood in EDTA2 weeks
HAEMLP344Alpha Thalassemia (Alpha globin/ HBA gene deletions) by MLPAMLPABlood in EDTA10 days
HAEMLP345Alpha globin gene (HBA) triplication by MLPAMLPABlood in EDTA10 days
HAEMLP385MLPA for Delta-Beta Thalassemia, Gamma ThalassemiaMLPABlood in EDTA10 days
HAEQPC212Haemochromatosis (Common mutations H63D and C282Y in the HFE gene)ARMS real time PCRBlood in EDTA7 days
HAENGS230Next Generation Sequencing Panel for Fanconi Anemia (FANCL, FANCD2, FANCE, FANCG, FANCC, FANCF, BRCA2, FANCI, SLX4, ERCC4, PALB2, FANCA, RAD51C, BRIP1, FANCB)NGSBlood in EDTA 4-5 weeks
Test No.Test NameAnalytical TechniqueSample requiredTAT
ONCNGS168BRAF V600 region sequencingNGSParaffin block/ Fresh tissue4-5 weeks
ONCNGS160KRAS mutation analysis (codons 12, 13, 61 & 146) by NGSNGSParaffin Block/ Fresh tissue4-5 weeks
ONCNGS158EGFR mutation analysis (exons 18, 19, 20 and 21) by NGSNGSParaffin Block/ Fresh tissue4-5 weeks
ONCNGS387EGFR T790M Quantitative mutation detection by NGSNGSParaffin Block/ Fresh tissue4-5 weeks
ONCNGS236EGFR (exons 18, 19, 20 and 21) and KRAS (codons 12, 13, 61 and 146) ultradeep mutation analysis by Next Generation SequencingNGSParaffin Block/ Fresh tissue4-5 weeks
ONCNGS045BRCause NGS Panel - Full sequencing of BRCA1 and BRCA2NGSBlood in EDTA 4-5 weeks
ONCNGS046BRCause Extended NGS Panel - Full sequencing of BRCA1, BRCA2, ATM, BRIP1, NBN, RAD51C, RAD51D, PALB2, STK11, CHEK2, PTEN, TP53, CDH1, MLH1, MSH2, MSH6, PMS2, APC, SMAD4, BLM, FANCC, ERCC2 and EPCAM genesNGSBlood in EDTA4-5 weeks
ONCMLP203BRCopy: BRCA1, BRCA2 copy number variations and large gene rearrangementsMLPABlood in EDTA10 days
ONCNGS393Germline panel for FAP (Familial Adenomatous Polyposis) (Next Generation Sequencing of APC, MUTYH genes)NGSBlood in EDTA 4-5 weeks
ONCNGS241Germline Panel for Hereditary Non-polyposis Colorectal Carcinoma (HNPCC)/ Lynch Syndrome (Next Generation Sequencing of EPCAM, MLH1, MSH2, MSH6 and PMS2)NGSBlood in EDTA 4-5 weeks
ONCNGS244Next Generation Sequencing panel for Multiple Endocrine Neoplasia (MEN) including RET and MEN1 genesNGSBlood in EDTA 4-5 weeks
ONCNGS248Retinoblastoma (RB1 gene Next Generation Sequencing)NGSBlood in EDTA 4-5 weeks
ONCFRG429Microsatellite Instability (MSI) by Fragment analysisFragment AnalysisFFPE Blocks/ Tissue + Blood in EDTA2 weeks
ONCMLP389MLPA for Von Hippel Lindau (VHL) SyndromeMLPABlood in EDTA10 days
NEPSEQ272Von Hippel Lindau Syndrome (Sequencing of exons 1, 2 and 3 of the VHL gene)CE-SeqBlood in EDTA2-3 weeks
ONCSEQ399Targeted sequencing in VHL, gene (for family members at risk)CE-SeqBlood in EDTA2 weeks
INDHC2440Human Papillomavirus (HPV) testing for Cervical Cancer Risk by HC2Hybrid Capture 2Cervical specimen in SurePath collection vialEvery Thursday
INDNGS441Human Papillomavirus (HPV) genotyping by NGS (RUO)NGSCervical specimen in SurePath collection vial4-5 weeks
Test No.Test NameAnalytical TechniqueSample requiredTAT
NEPNGS223Atypical Haemolytic Uraemic (aHUS) - gene dosage (CD46/MCP, CFI)MLPABlood in EDTA10 days
NEPMLP266Atypical Haemolytic Uraemic (aHUS) - gene dosage (CFH, CFHR1, CFHR3, CFHR2, CFHR5)MLPABlood in EDTA10 days
NEPSEQ195Steroid Resistant Nephrotic Syndrome (WT1 gene mutation analysis - exons 8 and 9)PCR + CE-SequencingBlood in EDTA10 days
ONCMLP389MLPA for Von Hippel Lindau (VHL) SyndromeMLPABlood in EDTA10 days
NEPSEQ272Von Hippel Lindau Syndrome (Sequencing of exons 1, 2 and 3 of the VHL gene)CE-SeqBlood in EDTA2-3 weeks
ONCSEQ399Targeted sequencing in VHL gene (for family members at risk)CE-SeqBlood in EDTA2 weeks
INDQPC061Hepatitis C Virus (HCV) RNA detection qualitativeReverse Transcription Taqman real time PCRBlood in EDTA/ EDTA plasma in plain bulb1-2 days
INDQRT053Hepatitis C Virus (HCV) RNA quantitative (viral load)Reverse Transcription Taqman real time PCRBlood in EDTA/ EDTA plasma in plain bulb1-2 days
INDQPC054Cytomegalovirus (CMV) detection qualitativeTaqman real time PCRBlood in EDTA/ EDTA plasma in plain bulb2 days
INDQPC144Cytomegalovirus (CMV) quantitation - CE-IVD marked assayTaqman real time PCRBlood in EDTA/ EDTA plasma in plain bulb2 days
INDQPC374Cytomegalovirus (CMV) quantitationTaqman real time PCRBlood in EDTA/ EDTA plasma in plain bulb2 days
INDQPC199Cytomegalovirus (CMV) quantitation from UrineTaqman real time PCRUrine in GPDX buffer2 days
INDQPC174Epstein-Barr Virus (EBV) qualitativeTaqman real time PCRBlood in EDTA/ EDTA plasma in plain bulb1-2 days
INDQPC173Epstein-Barr Virus (EBV) detection quantitative (viral load)Taqman real time PCRBlood in EDTA/ EDTA plasma in plain bulb1-2 days
INDQPC175Parvo virus B19 detection qualitativeTaqman real time PCRBlood in EDTA/ EDTA plasma in plain bulb1-2 days
INDQPC176Parvo virus B19 quantitative (viral load)Taqman real time PCRBlood in EDTA/ EDTA plasma in plain bulb1-2 days
INDQPC177BK virus (BKV) detection qualitativeTaqman real time PCRBlood in EDTA/ EDTA plasma in plain bulb1-2 days
INDQPC178BK virus (BKV) quantitative (viral load)Taqman real time PCRBlood in EDTA/ EDTA plasma in plain bulb1-2 days
Test No.Test NameAnalytical TechniqueSample requiredTAT
PAEMET143Prader-Willi/ Angelman (15q11 region - gene dosage & methylation)MS-MLPABlood in EDTA10 days
PAEMET148Fragile-X Syndrome (FMR1 - gene dosage & methylation)MS-MLPABlood in EDTA10 days
GYNMLP132Common Aneuploidies (Trisomy 13, 18, 21 + X & Y)MLPABlood in EDTA , Antenatal sample10 days
NEUMLP130Duchenne Muscular Dystrophy (deletions/ duplications of 79 exons of dystrophin / DMD gene)MLPABlood in EDTA10 days
PAEMLP201Spinal Muscular Atrophy (SMA) - SMN1, SMN2 deletion, duplicationMLPABlood in EDTA10 days
NEUPCR392 Myotonic Dystrophy Type I - Triplet Primed PCR (TP-PCR) (DMPK gene)TP-PCRBlood in EDTA2 weeks
RARMLP277Intellectual Disability Targeted Copy Number Variation Panel - 1 (common microdeletion/ duplication syndromes)MLPABlood in EDTA10 days
RARMLP278Intellectual Disability Targeted Copy Number Variation Panel - 2 (sub-telomeric regions)MLPABlood in EDTA10 days
RARMLP2791p36 deletion syndromeMLPABlood in EDTA10 days
RARMLP2802p16 microdeletionMLPABlood in EDTA10 days
RARMLP2812q23 microdeletion (MBD5)MLPABlood in EDTA10 days
RARMLP2822q33 microdeletion (SATB)MLPABlood in EDTA10 days
RARMLP2833q29 microdeletionMLPABlood in EDTA10 days
RARMLP2849q22.3 microdeletionMLPABlood in EDTA10 days
RARMLP28515q24 deletion syndromeMLPABlood in EDTA10 days
RARMLP28617q21 microdeletionMLPABlood in EDTA10 days
RARMLP28722q13 (Phelan-McDermid syndrome)MLPABlood in EDTA10 days
RARMLP2885p15 microdeletion (Cri du Chat syndrome)MLPABlood in EDTA10 days
RARMLP28922q11 microdeletion (DiGeorge syndrome)MLPABlood in EDTA10 days
RARMLP290Langer-Giedion syndromeMLPABlood in EDTA10 days
RARMLP29117p microdeletion (Miller-Dieker syndrome)MLPABlood in EDTA10 days
RARMLP292NF1 microdeletion syndromeMLPABlood in EDTA10 days
RARMLP29315q microdeletion (Prader Willi/ Angelman syndrome)MLPABlood in EDTA10 days
RARMLP294MECP2/ Xq28 duplicationMLPABlood in EDTA10 days
RARMLP295Rubinstein-Taybi syndromeMLPABlood in EDTA10 days
RARMLP296Smith-Magenis syndromeMLPABlood in EDTA10 days
RARMLP2975q35.3 microdeletion (Sotos syndrome)MLPABlood in EDTA10 days
RARMLP298Williams syndromeMLPABlood in EDTA10 days
RARMLP2994p16.3 microdeletion (Wolf-Hirschhorn syndrome)MLPABlood in EDTA10 days
NEUNGS357Next generation sequencing for Tuberous SclerosisNGSBlood in EDTA 4-5 weeks
NEUNGS358Next generation sequencing for NeurofibromatosisNGSBlood in EDTA 4-5 weeks
Test No.Test NameAnalytical TechniqueSample requiredTAT
INDQPC054Cytomegalovirus (CMV) detection qualitativeTaqman real time PCRBlood in EDTA/ EDTA plasma in plain bulb2 days
INDQPC144Cytomegalovirus (CMV) quantitation - CE-IVD marked assayTaqman real time PCRBlood in EDTA/ EDTA plasma in plain bulb2 days
INDQPC374Cytomegalovirus (CMV) quantitationTaqman real time PCRBlood in EDTA/ EDTA plasma in plain bulb2 days
INDQPC199Cytomegalovirus (CMV) quantitation from UrineTaqman real time PCRUrine in GPDX buffer2 days
INDQPC173Epstein-Barr Virus (EBV) quantitativeTaqman real time PCRBlood in EDTA/ EDTA plasma in plain bulb/ Urine (in GPDX preservative buffer*)2 days
INDQPC174Epstein-Barr Virus (EBV) qualitativeTaqman real time PCRBlood in EDTA/ EDTA plasma in plain bulb/ Urine (in GPDX preservative buffer*)2 days
INDQPC175Parvo virus B19 quantitativeTaqman real time PCRBlood in EDTA/ EDTA plasma in plain bulb/ Urine (in GPDX preservative buffer*)2 days
INDQPC176Parvo virus B19 qualitativeTaqman real time PCRBlood in EDTA/ EDTA plasma in plain bulb/ Urine (in GPDX preservative buffer*)2 days
INDQPC177BK virus quantitativeTaqman real time PCRBlood in EDTA/ EDTA plasma in plain bulb/ Urine (in GPDX preservative buffer*)2 days
INDQPC178BK virus qualitativeTaqman real time PCRBlood in EDTA/ EDTA plasma in plain bulb/ Urine (in GPDX preservative buffer*)2 days
INDQPC359Dengue, Chikungunya duplex panelMultiplex Taqman real time PCRBlood in EDTA / EDTA plasma in plain bulb2 days
INDQPC179Tropical Fever Multiplex Panel (Dengue virus, Chikungunya virus, West Nile virus, Plasmodium spp., Rickettsia spp., Leptospira spp., and Salmonella spp.)Multiplex Taqman real time PCRBlood in EDTA / EDTA plasma in plain bulb2 days
INDQPC210Tropical Fever Panel 1 (Dengue virus, West Nile virus, Rickettsia spp)Multiplex Taqman real time PCRBlood in EDTA2 days
INDQPC211Tropical Fever Panel 2 (Chikungunya virus, Plasmodium spp., Leptospira spp.)Multiplex Taqman real time PCRBlood in EDTA2 days
INDQPC193Viral Meningitis / Encephalitis 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 PCRCerebrospinal fluid, Blood in EDTA2 days
INDQPC206Viral Panel 1 (Cytomegalovirus, Epstein-Barr virus, Adenovirus)Multiplex Taqman real time PCRCerebrospinal fluid, Blood in EDTA2 days
INDQPC207Viral Panel 2 (Herpes simplex virus 1 & 2, Varicella-Zoster virus)Multiplex Taqman real time PCRCerebrospinal fluid, Blood in EDTA2 days
INDQPC208Viral Panel 3 (Enterovirus, Parechovirus)Multiplex Taqman real time PCRCerebrospinal fluid, Blood in EDTA2 days
INDQPC209Viral Panel 4 (Human Herpes virus 6 & 7, Parvovirus B19)Multiplex Taqman real time PCRCerebrospinal fluid, Blood in EDTA2 days
INDHC2440Human Papillomavirus (HPV) testing for Cervical Cancer Risk by HC2Hybrid Capture 2Cervical specimen in SurePath collection vialEvery Thursday
INDNGS441Human Papillomavirus (HPV) genotyping by NGS (RUO)NGSCervical specimen in SurePath collection vial4-5 weeks
INDPCR049Hepatitis B Virus (HBV) DNA detection qualitativeRT Taqman real time PCRBlood in EDTA/ EDTA plasma in plain bulb2 days
INDQPC052Hepatitis B Virus (HBV) DNA quantitative (viral load)RT Taqman real time PCRBlood in EDTA/ EDTA plasma in plain bulb2 days
INDQPC061Hepatitis C Virus (HCV) RNA detection qualitativeRT Taqman real time PCRBlood in EDTA/ EDTA plasma in plain bulb2 days
INDQRT053Hepatitis C Virus (HCV) RNA quantitative (viral load)RT Taqman real time PCRBlood in EDTA/ EDTA plasma in plain bulb2 days
Test No.Test NameAnalytical TechniqueSample requiredTAT
RPDMLP304MLPA for Aneuploidies (all chromosomes) in Products of Conception (POC)MLPAProducts of Conception in Saline10 days
RPDSEQ391Y-Chromosome MicrodeletionsAFLP/ Fragment AnalysisBlood in EDTA5 days
HAESEQ031Full HBB gene sequencing for beta ThalassemiaNGSBlood in EDTA4-5 weeks
HAESEQ034Full HBB gene sequencing for beta Thalassemia + HPLCNGS + HPLCBlood in EDTA3-4 weeks
HAESEQ031Targeted (known) mutation detection in HBB gene with Maternal Cell Contamination (MCC) for Prenatal samplesCE-Seq/ ARMS PCR + Fragment analysisAntenatal sample (CVS, Amniotic Fluid)10 days
HAEPCR396Detection of IVS1-5 G>C mutation in HBB geneARMS real time PCRBlood in EDTA, Antenatal sample2-3 days
HAESEQ397Targeted (known) sequencing in HBB gene for Beta ThalassemiaCE-SeqBlood in EDTA2 weeks
ONCNGS045BRCause NGS Panel - Full sequencing of BRCA1 and BRCA2NGSBlood in EDTA4-5 weeks
ONCNGS046BRCause Extended NGS Panel - Full sequencing of BRCA1, BRCA2, ATM, BRIP1, NBN, RAD51C, RAD51D, PALB2, STK11, CHEK2, PTEN, TP53, CDH1, MLH1, MSH2, MSH6, PMS2, APC, SMAD4, BLM, FANCC, ERCC2 and EPCAM genesNGSBlood in EDTA 4-5 weeks
ONCMLP203BRCopy: BRCA1, BRCA2 copy number variations and large gene rearrangements by MLPAMLPABlood in EDTA10 days
HAEQPC133Factor V Leiden (FVL R506Q/ G1691A) mutation analysisARMS real time PCRBlood in EDTA3 days
HAESEQ134Factor II / Prothrombin (FII G20210A) mutation analysisCE-SeqBlood in EDTA7 days
RPDFRG072Maternal Cell Contamination (MCC)Fragment AnalysisAntenatal sample and Parental sample in EDTA5 days
INDHC2440Human Papillomavirus (HPV) testing for Cervical Cancer Risk by HC2Hybrid Capture 2Cervical specimen in SurePath collection vialEvery Thursday
INDNGS441Human Papillomavirus (HPV) genotyping by NGS (RUO)NGSCervical specimen in SurePath collection vial4-5 weeks