GeneChrome, two biochemist joined hand & started this concept on the basis of 11 year experience in diagnostics segment with exposure of various technology. We decided to focus on niche area where most of the laboratory does not focus & to provide quality services in health care segments like… Autoimmunity Allergy Hormones Vitamins Genetics Electrophoresis Special biochemistry & many more profile ………………. We have a team of technically sound professional in diagnostics to drive our mission without compromising our values.

1. SR NO TEST CODE TEST NAME ANALYTICAL TECHNIQUE SPECIMEN TAT
1 GCH01
BCR/ABL t(9;22) translocation
(Philadelphia Chromosome) Major
(p210) + Minor (p190) qualitative
RQ-PCR Blood / Bone marrow in
EDTA vacutainer
2 days
2 GCH02
BCR/ABL t(9;22) translocation
(Philadelphia Chromosome) Major
(p210) quantitative
RQ-PCR Blood / Bone marrow in
EDTA vacutainer
2 days
3 GCH03
BCR/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
ARMS real time PCR Blood in EDTA vacutainer 1-2 days
6 GCH06
MTHFR (A222V/C677T) mutation
analysis
ARMS real time PCR Blood in EDTA vacutainer 1-2 days
7 GCH07
MTHFR (E429A/A1298C) mutation
analysis
ARMS real time PCR Blood in EDTA vacutainer 1-2 days
8 GCH08
MTHFR two common mutations
(A222V/C677T + E429A/A1298C)
ARMS real time PCR Blood in EDTA vacutainer 1-2 days
9 GCH09
Thrombophilia common mutations
panel
(FVL G1691A, FII G20210A, MTHFR C
677T + A1298C)
ARMS real time PCR Blood in EDTA vacutainer 1-2 days
10 GCH10
Acute Lymphocytic Leukemia (ALL)
common translocations qualitative panel
(BCR/ABL t(9;22), E2A/PBX2 t(1;19), T
EL/AML t(12;21),MLL/AF4 t(4;11))
RQ-PCR Blood / Bone marrow in
EDTA vacutainer
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))
RQ-PCR Blood / Bone marrow in
EDTA vacutainer
2 days
12 GCH12
Acute Promyelocytic Leukemia
(APML)PML/RARA t(15,17)
translocation qualitative
RQ-PCR Blood / Bone marrow in
EDTA vacutainer
1 day
13 GCH13
JAK2 (V617F) ARMS real time PCR Blood / Bone marrow in
EDTA vacutainer
1-2 days
GENETICS AND MOLECULAR BIOLOGY
Hematology / Hemato-oncology

2. 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
PCR + Capillary Sequencing Blood / Bone marrow in
EDTA vacutainer
5 days
18 GCH18
FLT3 D835 mutation detection - AML
Prognostic Marker
PCR + Capillary Sequencing Blood / Bone marrow in
EDTA vacutainer
5 days
19 GCH19
FLT3 (ITD + D835) - AML Prognostic
Markers
PCR + Capillary Sequencing Blood / Bone marrow in
EDTA vacutainer
5 days
20 GCH20
WT1 sequence analysis (exons 7 and
9) - AML Prognostic Markers
PCR + Capillary Sequencing Blood / Bone marrow in
EDTA vacutainer
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
PCR + Capillary Sequencing Blood / Bone marrow in
EDTA vacutainer
5 days
23 GCH23
UGT1A1 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
PCR + Capillary Sequencing Blood in EDTA vacutainer 5 days
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
SR NO TEST CODE TEST NAME ANALYTICAL TECHNIQUE SPECIMEN TAT
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
PCR + Capillary Sequencing Paraffin Block / Fresh tissue 7 days
30 GCO30
KRAS mutation analysis (codons 12, 13
& 61) by sequencing
PCR + Capillary Sequencing Paraffin Block / Fresh tissue 7 days
31 GCO31
EGFR mutation analysis (exons 19 and
21) by sequencing
PCR + Capillary Sequencing Paraffin Block / Fresh tissue 7 days
32 GCO32
EGFR mutation analysis (exons 19, 20
and 21) by sequencing
PCR + Capillary Sequencing Paraffin Block / Fresh tissue 7 days
Oncology (solid tumors)

3. 33 GCO33
EGFR mutation analysis (exons 18, 19,
20 and 21) by sequencing
PCR + Capillary Sequencing Paraffin Block / Fresh tissue 7 days
SR NO TEST CODE TEST NAME ANALYTICAL TECHNIQUE SPECIMEN TAT
34 GCP34
Craniofacial Disorder - gene dosage
(FGFR1 ,FGFR2 , FGFR3 , TWIST1 , M
SX2 , ALX1 , ALX3 ,ALX4 , EFNB1 , RU
NX2 )
MLPA Blood in EDTA vacutainer 7 days
35 GCP35
Prader Willi / Angelman syndrome
(chromosome 15q11 region)
Methylation sensitive PCR Blood in EDTA vacutainer 4-5 weeks
36 GCP36
Prader-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)
Methylation sensitive MLPA Blood in EDTA vacutainer 7 days
38 GCP38
Aneuploidy (Trisomy 13, 18, 21 + X &
Y)
MLPA Blood in EDTA vacutainer 7 days
39 GCP39
Duchenne Muscular Dystrophy (dosage
analysis of 79 exons of dystrophin /
DMD gene)
MLPA Blood in EDTA vacutainer 7 days
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 GCP42
Intersex disorders - gene dosage
(SRY , ZFY ,NR0B1 /DAX1 , WNT4 , SO
X9 , NR5A1 )
MLPA Blood in EDTA vacutainer 7 days
43 GCP43
Gonadal development disorders - gene
dosage
(DMRT1 , CYP17A1 , SRD5A2 ,HSD17
B3 )
MLPA Blood in EDTA vacutainer 7 days
44 GCP44
Growth Hormone Disorder - gene
dosage
(GH1 , POU1F1 /PIT1 , PROP1 , GHRH
R , LHX3 ,LHX4 , HESX1 )
MLPA Blood in EDTA vacutainer 7 days
45 GCP45
Congenital Adrenal Hyperplasia - gene
dosage
(CYP21A2 , CYP21A1P , C4A , C4B ,TN
XB )
MLPA Blood in EDTA vacutainer 7 days
46 GCP46
Congenital Adrenal
Hyperplasia CYP21A2 gene sequencing
PCR + Capillary Sequencing Blood in EDTA vacutainer 6 weeks
Pricesavailableonrequest
Pediatrics and Pediatric Endocrinology

4. 47 GCP47
Osteogenesis Imperfecta - gene dosage
(COL1A1 + COL1A2 )
MLPA Blood in EDTA vacutainer 7 days
48 GCP48
Achondroplasia common mutation study
(FGFR3 G380R i.e. G1138A/C)
ARMS real time PCR Blood in EDTA vacutainer 1-2 days
49 GCP49
Hypochondroplasia common mutation
study (FGFR3 N450K i.e. C1620A/G)
ARMS real time PCR Blood in EDTA vacutainer 1-2 days
50 GCP50
Achondroplasia (FGFR3 G380R ie.
G1138A/C) + Hypochondroplasia
(FGFR3 N450K ie. C1620A/G) common
mutations study
ARMS real time PCR Blood in EDTA vacutainer 1-2 days
51 GCP51
SHOX gene analysis for short stature -
gene dosage
MLPA Blood in EDTA vacutainer 7 days
52 GCP52
SHOX full gene sequencing for short
stature
PCR + Capillary Sequencing Blood in EDTA vacutainer 10 days
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
Methylation sensitive MLPA Blood in EDTA vacutainer 7 days
SR NO TEST CODE TEST NAME ANALYTICAL TECHNIQUE SPECIMEN TAT
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
Blood in EDTA vacutainer /
EDTA plasma in plain bulb
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

5. 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
Blood in EDTA vacutainer /
EDTA plasma in plain bulb
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 GCI67
Cepheid GeneXpert rapid MTB/RIF
(Mycobacterium tuberculosis with
Rifampicin resistance) test
Cepheid GeneXpert Raw sputum/ conc sediments
prepared from sputum
1 day
SR NO TEST CODE TEST NAME ANALYTICAL TECHNIQUE SPECIMEN TAT
68 GCR68
Obesity (Leptin / MC4R ) gene
sequencing
PCR + Capillary Sequencing Blood in EDTA vacutainer 7 days
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

6. 71 GCR71
Hereditary Vitamin D Dependent Rickets
(VDR ) Gene Sequencing
PCR + Capillary Sequencing Blood in EDTA vacutainer 2 weeks
72 GCR72
Steroid Resistant Nephrotic Syndrome
(WT1 gene mutation analysis - exons 8
and 9)
PCR + Capillary Sequencing Blood in EDTA vacutainer 7 days
SR NO TEST CODE TEST NAME ANALYTICAL TECHNIQUE SPECIMEN TAT
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