Stem Cell Transplantation

Treatment of many haematological diseases is extremely expensive. Apart from providing major subsidization of costs from our own funds (~35% of our total turnover) towards the care of such patients, we also arrange for external funds to further subsidize their care.

Link-Sample requirement/ turn around time

HAEMOGLOBINOPATHIES
Test Code	Specimen Requirement	Techniques	Test	Turn around time
B5024	RDB
	Beta Thalassaemia Common	10 ml of EDTA anticoagulated peripheral blood in two peripheral blood in two purple top tubes	Reverse Dot Blot	1 Week
	Mutation Screening 1.Codon 8/9(G>C) 2.Codon 15(G>A) 3.IVS 1-1(G>T) 4.IVS 1-5(G>C) 5.Codon 30(G>C) 6.IVS 1-1(G>A) 7.Codon41/42(-TCTT) 8.Codon 26(G>A) HbE 619 basepair deletion 9.Codon 6 (A -> T) (ßs)		PCR and Agarose gel Electrophrosis
B5024	Rare Mutation		DNA Sequencing	2 Weeks
B5024	Alpha Thalassaemia 1.Alpha Thalassaemia Deletion 2.Alpha Thalassaemia Multiplication	10 ml of EDTA anticoagulated peripheral blood in purple top tube	PCR and Agarose gel Electrophrosis	1 Month
B5051	Gilbert's Syndrome	10 ml of EDTA anticoagulated peripheral blood in purple top tube	PCR and Genescan	2 Weeks
B5025	Prenatal Diagnosis of Thalassaemia	10ml of EDTA anticoagulated peripheral blood in purple top tube Chorionic Villi Biopsy	DNA Sequencing VNTR analysis	3-4 days
B5052	Chimerism Analysis - Quantitative	10ml of EDTA anticoagulated peripheral blood in purple top tube	PCR and Genescan	1 Week

MOLECULAR DIAGNOSIS OF LEUKEMIA

RTPCR FOR LEUKEMIA SPECIFIC FUSION GENES

Test Code	Specimen Requirement	Techniques	Test	Turn around time
B5045	APML / CML / AML / HES APML T(15;17) PML-RARA T(11;17)PLZF-RARA AML T(8;21) AML-ETO inv(16) CBFB-MYH11 CML t(9;22) BCR-ABL HES FIP1L1-PDGFRA	10 mL Peripheral Blood (Bone Marrow whereever appropriate) in EDTA Purple top tube*	RTPCR	1 Week - 10 Days
B5027	ALL T(9;22) BCR-ABL T(12;21)TEL-AML T(1;19) E2A-PBX T(4;11) MLL-AF4	10 mL Peripheral Blood (Bone Marrow whereever appropriate) in EDTA Purple top tube*	RTPCR	1 Week 1 Month 1 Month 1 Month
B5059	ABL KINASE DOMAIN MUTATION ABL KINASE DOMAIN MUTATION	10 mL Peripheral Blood (Bone Marrow whereever appropriate) in EDTA PURPLE TOP TUBE*	RTPCR, Sequencing	2 weeks
B5046	REAL-TIME RTPCR (RQPCR) APML bcr1 bcr3 CML / ALL b3a2, b2a2 e1a2	10 mL Peripheral Blood (Bone Marrow whereever appropriate) in EDTA PURPLE TOP TUBE*	REAL TIME RT-PCR	2 Months 2 Months 1 Month 3 Months
B5057	BURKITS T(8;14) MYC-IgH	10 mL Peripheral Blood in EDTA Purple top tube	Long Distance PCR	1 week
	NPM1 exon 12	10 mL Peripheral Blood in EDTA Purple top tube	PCR Genescan	2 weeks
	FLT3-ITD and TKD mutation		PCR Sequencing	2 weeks
	FLT3-ITD and TKD mutation		PCR Sequencing	2 weeks
B5058	JAK2 V617F JAK2 V617F Mutation analysis	10 mL Peripheral Blood (Bone Marrow whereever appropriate) in EDTA PURPLE TOP TUBE	Allele specific PCR	2 weeks
B5060	ELA2 ELA2	10 mL Peripheral Blood in EDTA PURPLE TOP TUBE	PCR,CSGE,Sequencing	2 weeks

HAEMOSTASIS DISORDER

Test Code	Specimen Requirement	Techniques	Test	Turn around time
B5061	Mutation analysis of Rare bleeding disorders
	Factor II	10 ml of EDTA anticoagulated peripheral blood in purple tube	PCR and conformation sensitive gel electrophoresis sequencing	1 Month (5-6 Days from prenata l diagnosis (PND))
	Factor V	10 ml of EDTA anticoagulated peripheral blood in purple tube	PCR and conformation sensitive gel electrophoresis sequencing	1 Month (5-6 Days from prenatal diagnosis (PND))
	Factor VII	10 ml of EDTA anticoagulated peripheral blood in purple tube	PCR and conformation sensitive gel electrophoresis sequencing	1 Month (5-6 Days from prenatal diagnosis (PND))
	Factor X	10 ml of EDTA anticoagulated peripheral blood in purple tube	PCR and conformation sensitive gel electrophoresis sequencing	1 Month (5-6 Days from prenatal diagnosis (PND))
	Factor XI	10 ml of EDTA anticoagulated peripheral blood in purple tube	PCR and conformation sensitive gel electrophoresis sequencing	1 Month (5-6 Days from prenatal diagnosis (PND))
	Factor XIII	10 ml of EDTA anticoagulated peripheral blood in purple tube	PCR and conformation sensitive gel electrophoresis sequencing	1 Month (5-6 Days from prenatal diagnosis (PND))
B5026	Genetic markers for Thrombosis	10 ml of EDTA anticoagulated peripheral blood in purple tube
	Factor V Leiden (G1691>A)		PCR RFLP	3 Weeks
	Factor II Prothrombin (G20210>A)		PCR RFLP	3 Weeks
	MTHFR (C677>T)		PCR RFLP	3 Weeks
B5049	Haemophilia A Mutation Screening Inversion 22	10 ml of EDTA anticoagulated peripheral blood in purple tubes	PCR and agarose gel electrophoresis PCR and agarose gel electrophoresis	1 Month (5-6 Days from prenatal diagnosis (PND))
	Inversion 1 point mutations,deletions and insertions		Multiplex PCR and conformation sensitive gel electrophoresis sequencing
	linkage analysis Hind III intron 19 Xba Intron 22 CA Repeat Intron 13 & 22		RFLP RFLP Gene Scan
B5050	"Haemophilia A- Carrier diagnosis Inversion 22	10 ml of EDTA anticoagulated peripheral blood in purple tube	PCR and agarose gel electrophoresis	1 Month (5-6 Days from prenatal diagnosis (PND))
	Inversion 1 point mutations,deletions and insertions		Multiplex PCR and conformation sensitive gel electrophoresis sequencing
	linkage analysis Hind III Intron 19 Xba intron 22 CA Repeat Intron 13 & 22		RFLP RFLP Gene Scan
B5049	Haemophilia B Mutation Screening point mutation deletion insertion linkage analysis Xmn 1 Taq 1 Mnl 1 Hha	9 ml of EDTA anticoagulated peripheral blood in purple Top tube	Multiplex PCR and conformation sensitive gel electrophoresis sequencing RFLP RFLP RFLP RFLP	1 Month (5-6 Days from prenatal diagnosis (PND))
B5050	Haemophilia B Carrier Diagnosis point mutation deletion insertion Xmn 1 Taq 1 Mnl 1 Hha	10 ml of EDTA anticoagulated peripheral blood in purple top tube	Multiplex PCR and conformation sensitive gel electrophoresis sequencing RFLP RFLP RFLP RFLP	1 Month (5-6 Days from prenatal diagnosis (PND))

IMMUNOPHENOTYPING BY FLOWCYTOMETRY

Test Code	Specimen Requirement	Techniques	Test	Turn around time
B5003	Leukemia/Lymphoma
	Leukemia classification AML	5-6 ml of Sodium Heparin anticoagulated peripheral blood ,bone marrow samples.	Lyse and wash method	3-4 hrs from the time of sample received
	ALL(T-ALL, pre-B-ALL)	2-3 ml of other body fluids pericardial fluid, ascitic fluid,CSF ,pleural fluid.	Lyse and wash method
	Lymphoma classification T cell lymphoma	5-6 ml of Sodium Heparin anticoagulated peripheral blood ,bone marrow samples.	Lyse and wash method
	B cell lymphoma	2-3 ml of other body fluids pericardial fluid, ascitic fluid,CSF ,pleural fluid.	Lyse and wash method
	Immunodeficiency disorders
	ALPS(double negative T cells)	5-6 ml of Sodium Heparin anticoagulated peripheral blood sample of patient and healthy control	Lyse and wash method
	LAD(Leucocyte Adeshion Defeciency)	5-6 ml of Sodium Heparin anticoagulated peripheral blood sample of patient and healthy control	Lyse and wash method
	WAS(Wiscott Aldrich Syndrome)	5-6 ml of Sodium Heparin anticoagulated peripheral blood samples of patient and Mother Healthy controls	Lyse and wash method (Ficoll method)
	SCID(severe combined immunodeficiency disorder)	5-6 ml of Sodium Heparin anticoagulated peripheral blood sample	Lyse and wash method
	PNH		Lyse and wash method
		5-6 ml of Sodium Heparin anticoagulated peripheral blood sample of patient and healthy control	RBC analysis
	PIFT		PRP ANALYSIS
		5-6 ml of Sodium Heparin anticoagulated peripheral blood sample of patient and healthy control
	CD34 Enumeration		Lyse and wash method

CYTOGENETICS

Test Code	Specimen Requirement	Techniques	Test	Turn around time
B5029	Conventional cytogenetics- karyotyping of bone marrow for AML, ALL, MDS, MM, CLL, CML/ MPD.	VOLUME Atleast 1ml of bone marrow (early aspirate) Samples should be sterile& fresh Do not freeze/fix Label tube with patient details & nature of sample Request form with patient details & clinician contact number to be sent with sample CONTAINER Sodium heparin vaccutainer (green top) TIME 8am-3pm: Mon-Fri Before 11am: Sat	Conventional cytogenetics	AML : 2 weeks (after marrow report is ready) Others: 3 weeks -1 month (after Marrow report is ready)
B5030	Fluorescence insitu hybridization (FISH)- for specific abnormalities translocations, deletions, inversion, chimerism ( sex- mismatched)	VOLUME 3-5 ml of peripheral blood. Atleast 1ml of bone marrow (early aspirate) Samples should be sterile& fresh Do not freeze/fix Label tube with patient details & nature of Sample Request form with patient details & clinician Contact number to be sent with sample CONTAINER Sodium heparin vaccutainer (green top) TIME 8am-3pm: Mon-Fri Before 11am: Sat	Fluorescence insitu hybridization (FISH)-	Presentation:3-6 working days Post treatment: 2 weeks
B5037	Chromosome breakage studies for diagnosis of Fanconi anemia	VOLUME 3-5 ml of peripheral blood. Atleast 1ml of bone marrow (early aspirate) Samples should be sterile& fresh Do not freeze/fix Label tube with patient details & nature of Sample Request form with patient details & clinician Contact number to be sent with sample CONTAINER Sodium heparin vaccutainer (green top). TIME 8am-3pm: Mon-Fri Before 11am: Sat	MMC test	14 days from date of receipt. (4-6 working days for preparation to be ready).