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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.

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.

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).