Service Details 2

SR NO TEST CODE TEST NAME ANALYTICAL TECHNIQUE SPECIMEN TAT

1 GCH01BCR/ABL t(9;22) translocation (Philadelphia Chromosome) Major (p210) + Minor (p190) qualitative

RQ-PCR Blood / Bone marrow in EDTA vacutainer

2 days

2 GCH02BCR/ABL t(9;22) translocation (Philadelphia Chromosome) Major (p210) quantitative


2 days

3 GCH03BCR/ABL t(9;22) Kinase Domain (Imanitib Resistance) Mutation Analysis (IRMA)

PCR + Capillary Sequencing Blood / Bone marrow in EDTA vacutainer

7 days

4 GCH04 Factor V Leiden (FVL R506Q/ G1691A) mutation analysis

ARMS real time PCR Blood in EDTA vacutainer 1-2 days

5 GCH05 Factor II / Prothrombin (FII G20210A) mutation analysis


6 GCH06 MTHFR (A222V/C677T) mutation analysis


7 GCH07 MTHFR (E429A/A1298C) mutation analysis


8 GCH08 MTHFR two common mutations (A222V/C677T + E429A/A1298C)


9 GCH09

Thrombophilia common mutations panel (FVLG1691A, FII G20210A, MTHFR C677T + A1298C)


10 GCH10

Acute Lymphocytic Leukemia (ALL) common translocations qualitative panel (BCR/ABL t(9;22), E2A/PBX2 t(1;19), TEL/AML t(12;21),MLL/AF4 t(4;11))


2 days

11 GCH11

Acute Myeloid Leukemia (AML) common translocations / inversion qualitative panel (AML1/ETO t(8;21), CBFB/MYH11 inv(16),PML/RARA t(15;17))


2 days

12 GCH12Acute Promyelocytic Leukemia (APML)PML/RARA t(15,17) translocation qualitative


1 day

13 GCH13 JAK2 (V617F) ARMS real time PCR Blood / Bone marrow in EDTA vacutainer

1-2 days

GENETICS AND MOLECULAR BIOLOGYHematology / Hemato-oncology

14 GCH14 JAK2 exon 12 sequencing PCR + Capillary Sequencing Blood / Bone marrow in EDTA vacutainer

5 days

15 GCH15 JAK2 exon 14 sequencing PCR + Capillary Sequencing Blood / Bone marrow in EDTA vacutainer

5 days

16 GCH16 JAK2 exon 12 and 14 sequencing PCR + Capillary Sequencing Blood / Bone marrow in EDTA vacutainer

5 days

17 GCH17 FLT3 Internal Tandem Duplication (ITD) - AML Prognostic Marker


5 days

18 GCH18 FLT3 D835 mutation detection - AML Prognostic Marker


5 days

19 GCH19 FLT3 (ITD + D835) - AML Prognostic Markers


5 days

20 GCH20 WT1 sequence analysis (exons 7 and 9) - AML Prognostic Markers


5 days

21 GCH21 WT1 gene expression - AML Prognostic Marker

Reverse transcription real time PCR

Blood / Bone marrow in EDTA vacutainer

5 days

22 GCH22 NPM1 gene sequencing (exon 12) - AML Prognostic Marker


5 days

23 GCH23UGT1A1 Promoter Sequencing for Gilbert's syndrome common mutations and Irinotecan toxicity

PCR + Capillary Sequencing Blood in EDTA vacutainer 5 days

24 GCH24 Complete HBB gene sequencing for beta Thalassemia


25 GCH25

Myelodysplastic syndrome (MDS) unbalanced translocations (chromosomes 3, 5q, 7q, 8q, 11q, 12p, 17, 19, 20q and Y)

MLPA Blood in EDTA vacutainer 7 days


26 GCO26 BRAF (V600E) ARMS real time PCR Paraffin block / Fresh tissue 1-2 days

27 GCO27 BRAF V600 region sequencing PCR + Capillary Sequencing Paraffin block / Fresh tissue 5 days

28 GCO28 KRAS mutation analysis (codon 61) by sequencing

PCR + Capillary Sequencing Paraffin Block / Fresh tissue 7 days

29 GCO29 KRAS mutation analysis (codons 12, 13) by sequencing


30 GCO30 KRAS mutation analysis (codons 12, 13 & 61) by sequencing


31 GCO31 EGFR mutation analysis (exons 19 and 21) by sequencing


32 GCO32 EGFR mutation analysis (exons 19, 20 and 21) by sequencing


Oncology (solid tumors)

33 GCO33 EGFR mutation analysis (exons 18, 19, 20 and 21) by sequencing



34 GCP34

Craniofacial Disorder - gene dosage (FGFR1 ,FGFR2 , FGFR3 , TWIST1 , MSX2 , ALX1 , ALX3 ,ALX4 , EFNB1 , RUNX2 )


35 GCP35 Prader Willi / Angelman syndrome (chromosome 15q11 region)

Methylation sensitive PCR Blood in EDTA vacutainer 4-5 weeks

36 GCP36Prader-Willi / Angelman (15q11 region – gene dosage & methylation)

Methylation sensitive MLPA Blood in EDTA vacutainer 7 days

37 GCP37 Fragile-X (FMR /AFF2 – gene dosage & methylation)


38 GCP38 Aneuploidy (Trisomy 13, 18, 21 + X & Y)


39 GCP39Duchenne Muscular Dystrophy (dosage analysis of 79 exons of dystrophin / DMD gene)


40 GCP40 Ambiguous Genitalia - rapid resolution (SRY )

Taqman real time PCR Blood in EDTA vacutainer 1 day

41 GCP41 Ambiguous Genitalia - rapid resolution (SRY ,DYS14 )

Taqman real time PCR Blood in EDTA vacutainer 1 day

42 GCP42Intersex disorders - gene dosage (SRY , ZFY ,NR0B1 /DAX1 , WNT4 , SOX9 , NR5A1 )


43 GCP43

Gonadal development disorders - gene dosage (DMRT1 , CYP17A1 , SRD5A2 ,HSD17B3 )


44 GCP44

Growth Hormone Disorder - gene dosage (GH1 , POU1F1 /PIT1 , PROP1 , GHRHR , LHX3 ,LHX4 , HESX1 )


45 GCP45

Congenital Adrenal Hyperplasia - gene dosage (CYP21A2 , CYP21A1P , C4A , C4B ,TNXB )


46 GCP46Congenital Adrenal Hyperplasia CYP21A2 gene sequencing

PCR + Capillary Sequencing Blood in EDTA vacutainer 6 weeks

Prices available on request

Pediatrics and Pediatric Endocrinology

47 GCP47 Osteogenesis Imperfecta - gene dosage (COL1A1 + COL1A2 )


48 GCP48Achondroplasia common mutation study (FGFR3 G380R i.e. G1138A/C)


49 GCP49Hypochondroplasia common mutation study (FGFR3 N450K i.e. C1620A/G)


50 GCP50

Achondroplasia (FGFR3 G380R ie. G1138A/C) + Hypochondroplasia (FGFR3 N450K ie. C1620A/G) common mutations study


51 GCP51 SHOX gene analysis for short stature - gene dosage


52 GCP52 SHOX full gene sequencing for short stature


53 GCP53 SHOX comprehensive gene analysis for short stature

MLPA + PCR + Capillary Sequencing

Blood in EDTA vacutainer 10 days

54 GCP54

Russell-Silver / Beckwith-Weidemann syndrome (chromosome 11p15 region) gene dosage and methylation



55 GCI55 Hepatitis C Virus (HCV) RNA detection qualitative

Reverse Transcription Taqman real time PCR

Blood in EDTA vacutainer / EDTA plasma in plain bulb

1-2 days

56 GCI56 Hepatitis C Virus (HCV) RNA quantitative

Reverse Transcription Taqman real time PCR


1-2 days

57 GCI57

Cytomegalovirus (CMV) detection Taqman real time PCR Blood in EDTA vacutainer / EDTA plasma in plain bulb / Urine (in GPDX preservative buffer)

1 day

58 GCI58

Cytomegalovirus (CMV) quantitation Taqman real time PCR Blood in EDTA vacutainer / EDTA plasma in plain bulb / Urine (in GPDX preservative buffer)

1 day

59 GCI59

Epstein-Barr Virus (EBV) quantitative Taqman real time PCR Blood in EDTA vacutainer / EDTA plasma in plain bulb / Urine (in GPDX preservative buffer)

2 days

Infectious Diseases

60 GCI60

Epstein-Barr Virus (EBV) qualitative Taqman real time PCR Blood in EDTA vacutainer / EDTA plasma in plain bulb / Urine (in GPDX preservative buffer)

2 days

61 GCI61

Parvo virus B19 quantitative Taqman real time PCR Blood in EDTA vacutainer / EDTA plasma in plain bulb / Urine (in GPDX preservative buffer)

2 days

62 GCI62

Parvo virus B19 qualitative Taqman real time PCR Blood in EDTA vacutainer / EDTA plasma in plain bulb / Urine (in GPDX preservative buffer)

2 days

63 GCI63

BK virus quantitative Taqman real time PCR Blood in EDTA vacutainer / EDTA plasma in plain bulb / Urine (in GPDX preservative buffer)

2 days

64 GCI64

BK virus qualitative Taqman real time PCR Blood in EDTA vacutainer / EDTA plasma in plain bulb / Urine (in GPDX preservative buffer)

2 days

65 GCI65

Tropical Fever Multiplex (Dengue virus, Chikungunya virus, West Nile virus,Plasmodium spp., Rickettsia spp., Leptospira spp., and Salmonella spp.)

Multiplex Taqman real time PCR


2 days

66 GCI66

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 2 days

67 GCI67Cepheid GeneXpert rapid MTB/RIF (Mycobacterium tuberculosis with Rifampicin resistance) test

Cepheid GeneXpert Raw sputum/ conc sediments prepared from sputum

1 day


68 GCR68 Obesity (Leptin / MC4R ) gene sequencing


69 GCR69 Progeria (LMNA ) gene sequencing PCR + Capillary Sequencing Blood in EDTA vacutainer 7 days

70 GCR70 Vitamin D Receptor (VDR ) Polymorphisms (FokI , BsmI )

ARMS real time PCR Blood in EDTA vacutainer 2 days

Rare/ Esoteric Tests

71 GCR71 Hereditary Vitamin D Dependent Rickets (VDR ) Gene Sequencing

PCR + Capillary Sequencing Blood in EDTA vacutainer 2 weeks

72 GCR72Steroid Resistant Nephrotic Syndrome (WT1 gene mutation analysis - exons 8 and 9)



73 NGS Germline Cancer Panel (94 gene germline cancer panel)

Next Generation Sequencing Blood in EDTA vacutainer 4-6 weeks

74 NGS Tumor Panel (26 gene somatic cancer panel)

Next Generation Sequencing Paraffin Block / Fresh tissue 4-6 weeks

75 NGS Myeloid Panel (54 genes mutated in myeloid malignancies)

Next Generation Sequencing Blood in EDTA vacutainer 4-6 weeks

Next Generation Sequence (NGS) Panels – Coming soon

Business

Service Details 2