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Molecular Diagnostics-Hematology

No

Analyt / Investigation

Specimen Type

Container Type/ Volume

Turnaround Time (TAT)

Emergency (STAT) case

Performed day

DNA/RNA

1

5- Fluorouracil ( 5-FU) toxicity
DPYD IVS 14+1 G>A polymorphism

Bone Marrow or Blood or FFPE

EDTA lavender Cap /5ml

5 Days

Daily

Saturday/Monday/Wednesday

DNA

2

ABL Kinase Mutation

 (TKI resistance or imatinib resistance )

(RT-PCR/Sequencing)

Blood or Bone Marrow

EDTA lavender Cap /5ml

15 days

NA

Daily

RNA

3

ALK

(Anaplastic Lymphoma Kinase)

FFPE or fresh frozen tissue

NA

 

NA

 

RNA

4

BCR-ABL/ t(9;22)p190/mBCR (Quantitative)

Blood or Bone Marrow

EDTA lavender Cap /10 ml

5 Days

Daily

Saturday/Monday/Wednesday

RNA

5

BCR-ABL/ t(9;22)p190/mBCR(Qualitative)

Blood or Bone Marrow

EDTA lavender Cap /5ml

4 Days

Daily

Sunday/Tuesday/
Thursday

RNA

6

BCR-ABL/ t(9;22)p210/MBCR (Qualitative)

Blood or Bone Marrow

EDTA lavender Cap /5ml

4 Days

Daily

Sunday/Tuesday/
Thursday

RNA

7

BCR-ABL/ t(9;22)p210/MBCR (Quantitative) International Scale;IS

Blood or Bone Marrow

EDTA lavender Cap /10 ml

5-7 Days

Daily

Saturday/Monday/Wednesday

RNA

8

BRAF V600E Mutation for Hairy Cell Leukemia

Bone Marrow or Blood or FFPE

EDTA lavender Cap /5ml

4 Days

NA

Saturday/Monday/Wednesday

DNA

9

Calreticulin Mutation in MPNs, deletion & insertion (PCR/Sequencing)

Blood or Bone Marrow

EDTA lavender Cap /5ml

4 Days

Daily

Saturday/Monday/Wednesday

DNA

10

CEBPA Mutation-A as AML prognostic Marker (PCR/Sequencing)

Blood or Bone Marrow

EDTA lavender Cap /5ml

15 Days

NA

Daily

DNA

11

CEBPA Mutation-B as AML prognostic Marker (PCR/Sequencing)

Blood or Bone Marrow

EDTA lavender Cap /5ml

15 Days

NA

Daily

DNA

12

CEBPA Mutation-C as AML prognostic Marker (PCR/Sequencing)

Blood or Bone Marrow

EDTA lavender Cap /5ml

15 Days

NA

Daily

DNA

13

Celiac disease ( HLA DQ2)

Blood

EDTA lavender Cap /5ml

5 Days

NA

Saturday/Monday/Wednesday

DNA

14

Celiac disease ( HLA DQ8)

Blood

EDTA lavender Cap /5ml

5 Days

NA

Saturday/Monday/Wednesday

DNA

15

c-kit  D816V Mutation for AML

Bone Marrow or Blood or FFPE

EDTA lavender Cap /5ml

5 Days

NA

Sunday/Tuesday/
Thursday

DNA

16

CML- E255K Mutation or TKI resistance

Blood or Bone Marrow

EDTA lavender Cap /5ml

5 Days

Daily

Daily

RNA

17

CML- T315I Mutation or TKI resistance

Blood or Bone Marrow

EDTA lavender Cap /5ml

5 Days

Daily

Daily

RNA

18

CML- Y253H Mutation or TKI resistance

Blood or Bone Marrow

EDTA lavender Cap /5ml

5 Days

Daily

Daily

RNA

19

FIP1L1-PDGFRA  Exon 9 ,10,11,12,13 for Clonal Eosinophilia

Blood or Bone Marrow

EDTA lavender Cap /5ml

5 Days

NA

Saturday/Monday/Wednesday

RNA

20

FLT3-D835 Mutation for AML (prognostic marker)

Blood or Bone Marrow

EDTA lavender Cap /5ml

5 Days

NA

Saturday/Monday/Wednesday

DNA

21

FLT3-ITD Mutation for AML (prognostic marker)

Blood or Bone Marrow

EDTA lavender Cap /5ml

5 Days

NA

Saturday/Monday/Wednesday

DNA

22

HFE or Hemochromatosis Gene Mutation (C282Y)

Blood

EDTA lavender Cap /5ml

5 Days

NA

Saturday/Monday/Wednesday

DNA

23

HFE or Hemochromatosis Gene Mutation (H63D)

Blood

EDTA lavender Cap /5ml

5 Days

NA

Saturday/Monday/Wednesday

DNA

24

HLA ABC Class I

Blood

NA

 

NA

 

DNA

25

HLA class II DQAL, DQBI

Blood

EDTA lavender Cap /5ml

 

NA

 

DNA

26

HLA class II DR B1,B2,B3

Blood

NA

 

NA

 

DNA

27

IDH1 Mutation

Blood or Bone Marrow

EDTA lavender Cap /5ml

15 Days

NA

Saturday/Monday/Wednesday

DNA

28

IDH2 Mutation

Blood or Bone Marrow

EDTA lavender Cap /5ml

15 days

NA

Saturday/Monday/Wednesday

DNA

29

IgH gene rearrangement

(Clonality Assay)

Bone Marrow or Blood or FFPE

EDTA lavender Cap /5ml

5 Days

NA

Sunday/Tuesday/
Thursday

DNA

30

IgH gene rearrangement

 ( MRD Assay as Prognostic Marker )

Bone Marrow or FFPE

EDTA lavender Cap /5ml

5 Days

NA

Sunday/Tuesday/
Thursday

DNA

31

IgHV gene mutation – VH 3 &VH 4 ( CLL prognosis) (Sequencing)

Blood or Bone Marrow

EDTA lavender Cap /5ml

15 Days

NA

Sunday/Tuesday/
Thursday

DNA

32

IgHV gene mutation – VH1&VH2  ( CLL prognosis) (Sequencing)

Blood or Bone Marrow

EDTA lavender Cap /5ml

15 Days

NA

Sunday/Tuesday/
Thursday

DNA

33

IgHV gene mutation – VH5 & VH6 ( CLL prognosis) (Sequencing)

Blood or Bone Marrow

EDTA lavender Cap /5ml

15 Days

NA

Sunday/Tuesday/
Thursday

DNA

34

Igk gene rearrangement

( Clonality Assay)

Bone Marrow or Blood or FFPE

EDTA lavender Cap /5ml

7 Days

NA

Saturday/Monday/Wednesday

DNA

35

Inv(16) or t(16;16);CBFB-MYH11 or CBFB-MYH11/ Inv16

Blood or Bone Marrow

EDTA lavender Cap /5ml

4 Days

NA

Sunday/Tuesday/
Thursday

RNA

36

Jak2 - V617F Mutation Qualitative for MPNs (ET,PMF,PV)

Blood or Bone Marrow

EDTA lavender Cap /5ml

4 Days

NA

Saturday/Monday/Wednesday

DNA

37

Jak2 - V617F Mutation Quantitative for MPNs (ET,PMF,PV)

Blood or Bone Marrow

EDTA lavender Cap /10 ml

5 Days

NA

Saturday/Monday/Wednesday

DNA

38

Jak2 exon12 mutation for PV (Sequencing)

Blood or Bone Marrow

EDTA lavender Cap /5ml

14 Days

NA

Saturday/Monday/Wednesday

DNA

39

KRAS

FFPE or fresh frozen tissue

NA

 

NA

 

DNA

40

MPL- S505N Mutation for Familial Thrombocytosis

Blood or Bone Marrow

EDTA lavender Cap /5ml

7 Days

NA

Sunday/Tuesday/
Thursday

DNA

41

MPL-W515K  Mutation for MPNs (ET,PMF,PV)

Blood or Bone Marrow

EDTA lavender Cap /5ml

4 Days

NA

Sunday/Tuesday/
Thursday

DNA

42

MPL-W515L  Mutation for MPNs (ET,PMF,PV)

Blood or Bone Marrow

EDTA lavender Cap /5ml

4 Days

NA

Sunday/Tuesday/
Thursday

DNA

43

N-myc gene Amplification (Neuroblastoma)

Bone Marrow or FFPE or Fresh frozen tissue

EDTA lavender Cap /5ml

 

NA

 

DNA

44

NPM1 Mutation as AML prognostic Marker (PCR/Sequencing)

Blood or Bone Marrow

EDTA lavender Cap /5ml

 

NA

 

DNA

45

NPM1 Mutation as AML prognostic Marker (PCR/Sequencing)

Blood or Bone Marrow

EDTA lavender Cap /5ml

 

NA

 

DNA

46

NRAS (Exon2,3,4) for MDS & AML

FFPE or Fresh frozen tissue

NA

 

NA

 

DNA

47

Plavix or Clopidogrel resistance or Cyp2c19 Genotyping for Plavix or Clopidogrel - Genotype 2

Blood

EDTA lavender Cap /5ml

5 Days

NA

Sunday/Tuesday/
Thursday

DNA

48

Plavix or Clopidogrel resistance or Cyp2c19 Genotyping for Plavix or Clopidogrel - Genotype 3

Blood

EDTA lavender Cap /5ml

5 Days

NA

Sunday/Tuesday/
Thursday

DNA

49

PLZF-RARA

Blood or bone Marrow

EDTA lavender Cap /5ml

 

NA

 

RNA

50

Synovial sarcoma

FFPE or fresh frozen tissue

NA

 

NA

 

RNA

51

T(1:13) or PAX7-FKHR for Rhabdomyo sarcoma

FFPE or fresh frozen tissue

NA

 

NA

 

RNA

52

t(1;14) SIL-TAL or del(1)SIL-TAL1 for T-ALL

Blood or Bone Marrow

EDTA lavender Cap /5ml

4 Days

NA

Sunday/Tuesday/
Thursday

RNA

53

t(1;19)TCF3-PBX1 or E2A-PBX1 /t(1;19)

Blood or Bone Marrow

EDTA lavender Cap /5ml

4 Days

NA

Sunday/Tuesday/
Thursday

RNA

54

t(11;14) IgH/CCND1 or Cyclin D1/BCL1 /t(11;14) for Mantle cell lymphoma

Bone Marrow or Blood or FFPE

EDTA lavender Cap /5ml

5 Days

NA

Sunday/Tuesday/
Thursday

DNA

55

t(12;21) ETV6-RUNX1 or TEL-AML1 / t(12;21) for ALL (Qualitative)

Blood or Bone Marrow

EDTA lavender Cap /5ml

4 Days

NA

Sunday/Tuesday/
Thursday

RNA

56

t(12;21) ETV6-RUNX1 or TEL-AML1 / t(12;21) for ALL (Quantitative)

Blood or Bone Marrow

EDTA lavender Cap /9 ml

5 Days

NA

Sunday/Tuesday/
Thursday

RNA

57

t(14;18) IgH/BCL2 (MBR) or IgH/BCL2 / t(14;18) for Follicular lymphoma

Bone Marrow or Blood or FFPE

EDTA lavender Cap /5ml

4 Days

NA

Sunday/Tuesday/
Thursday

DNA

58

t(14;18) IgH/BCL2 (mcr) or IgH/BCL2 / t(14;18) for Follicular lymphoma

Bone Marrow or Blood or FFPE

EDTA lavender Cap /5ml

4 Days

NA

Sunday/Tuesday/
Thursday

DNA

59

t(15;17) PML-RARA for AML-M3 and M3v  (Quantitative)

Blood or Bone Marrow

EDTA lavender Cap /10 ml

5 Days

NA

Saturday/Monday/Wednesday

RNA

60

t(15;17) PML-RARA for AML-M3 and M3v (Qualitative)

Blood or Bone Marrow

EDTA lavender Cap /5ml

2 Days

Daily

Daily

RNA

61

T(2:13) or PAX3-FKHR for Rhabdomyo sarcoma

FFPE or fresh frozen tissue

NA

 

NA

 

RNA

62

t(4;11) MLL-AF4 for ALL

Blood or Bone Marrow

EDTA lavender Cap /5ml

4 Days

NA

Saturday/Monday/Wednesday

RNA

63

t(8;21)(q22;q22.1);RUNX1-RUNX1T1 or AML1-ETO/t(8;21)

Blood or Bone Marrow

EDTA lavender Cap /5ml

4 Days

NA

Sunday/Tuesday/
Thursday

RNA

64

TCR-γ (Gamma) gene rearrangement  B

( Clonality Assay)

Bone Marrow or Blood or FFPE

EDTA lavender Cap /5ml

5 Days

NA

Sunday/Tuesday/
Thursday

DNA

65

TCR-γ (Gamma) gene rearrangement A

(Clonality Assay)

Bone Marrow or Blood or FFPE

EDTA lavender Cap /5ml

5 Days

NA

Sunday/Tuesday/
Thursday

DNA

66

TCR-δ (Delta) gene rearrangement

(Clonality Assay)

Bone Marrow or Blood or FFPE

EDTA lavender Cap /5ml

5 Days

NA

Sunday/Tuesday/
Thursday

DNA

67

Thiopurine Meyhyl Transferase (TPMT)
Toxicity to Azathioprin, 6 Mercaptopurine, 6 thioguanine

Bone Marrow or Blood or FFPE

EDTA lavender Cap /5ml

5 Days

NA

Saturday/Monday/Wednesday

DNA

68

Warfarin sensitivity genotyping: VKORC1

Blood or Bone Marrow

EDTA lavender Cap /5ml

7 Days

NA

Wednesday

DNA

69

Warfarin sensitivity or genotyping: Cyp2C9

Blood or Bone Marrow

EDTA lavender Cap /5ml

7 Days

NA

Wednesday

DNA

               

 

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