S No Test Name Platform Sample type TAT
1 Karyotyping Analysis (single) Karyotype Sodium Heparin (Na Heparin) Blood
(3 ml in green capped vacutainer)
2 weeks
2 Karyotyping Analysis (Couple) Karyotype Sodium Heparin (Na Heparin) Blood
(3 ml in green capped vacutainer)
2 weeks
3 BabyMap Newborn/ Metabolic screening [Indications:
Routinely done for babies to help in early detection of
metabolic / genetic disorders to allow early treatment;
consanguineous parents, family history of genetic
disorders – intellectual or physical disability, newborn
deaths, abnormal prenatal ultrasound findings]
[Genes Covered: ABCD1, ABCD4, ACAD8, ACADM,
ACADS, ACADSB, ACADVL, ACAT1, ACSF3, ADA, AHCY, ARG1,
ASL, ASPA, ASS1, AUH, BCKDHA, BCKDHB, BLM, BTD, CBS,
CD320, CFTR, CPT1A, CPT2, CYP21A2, DBT, DLD, DNAJC19,
DUOX2, EFTA, EFTB, EFTDH, FAH, G6PC, G6PD, GAA, GALC,
GALE, GALK1, GALT, GBA, GCDH, GCH1, GJB2, GJB3, GJB6,
GLA, GNMT, HADH, HADHA, HADHB, HBA1, HBA2, HBB, HCFC1,
HEXA, HLCS, HMGCL, HPD, HSD17B10, IDUA, IKBKAP, IL2RG,
IVD, MAT1A, MCCC1, MCCC2, MCEE, MCOLN1, MLYCD, MMAA,
MMAB, MMACHC, MMADHC, MTHFR, MTR, MTRR, MUT,
NPC1, NPC2, OPA3, OTC, PAH, PAX8, PCBD1, PCCA,
PCCB, PTS, QDPR, SLC22A5, SLC25A13, SLC25A20, SLC5A5,
SLC26A4, SMPD1, TAT, TAZ, TCN2, TG, THRA, THRB, TNXP,
TPO, TSHB, TSHR]
NGS Minimum 3 ug DNA or 1 ml EDTA Blood or 1
Dried blood filter card
10 – 12 working days
4 BabyMap Carrier Screening for couples [Indications:
Routinely done for couples who are keen to prevent
common genetic disorders in their children;
consanguineous couple, couple with family history of
genetic disorders – intellectual or physical disability,
newborn deaths, abnormal prenatal ultrasound findings]
NGS Minimum 3 ug DNA or 1 ml EDTA Blood or
1 Dried blood filter card
10 – 12 working days
5 BabyMap Family (Parents + Baby) [Indications:
As stated above]
NGS Minimum 3 ug DNA or 1 ml EDTA Blood
or 1 filter card
10 – 12 working days
6 Clinical Exome Sequencing [Indications: Screens
for mutations in the coding regions of 6000 known disease
genes (in OMIM database). It may either be done to detect
the carrier status of genetic disorders in the parents or
used as a molecular genetic test in an affected child/ adult]
NGS Minimum 2 ug DNA or 4 ml EDTA Blood
(collected in 2 separate tubes)
4 – 6 weeks
7 Whole Exome Sequencing (WES) [Indications: The WES
screens for mutations in the coding regions (2%)
of > 21,000 genes. It may either be done to detect
the carrier status of genetic disorders in the parents or
used as a molecular genetic test in an affected child/ adult]
NGS 1 ug DNA or 2 ml EDTA Blood 7 – 8 weeks
8 Whole Exome Sequencing (WES) Trio [Indications: As
stated above]
NGS 1 ug DNA or 2 ml EDTA Blood 7 – 8 weeks
9 Whole Genome Sequencing (WGS) [Indications: WGS is
THE most extensive genetic test available currently.
The test analyses 95% to 98% of the total genome.
Unlike, the WES, the WGS analyses the DNA sequence of
the promoter regions, regulatory domains and
intronic regions along with all coding exons. It may
either be done to detect the carrier status of genetic
disorders in the parents or used as a molecular genetic
test in an affected child/ adult]
NGS Minimum 4ug DNA or 4 ml EDTA Blood
(collected in 2 separate tubes)
6 – 8 weeks
10 Whole Genome Sequencing (WGS) Trio [Indications:
As stated above]
NGS Minimum 4ug DNA or 4 ml EDTA Blood
(collected in 2 separate tubes)
6 – 8 weeks
11 Chromosomal CGH microarray – 750K
Baby Array
[Indications: Child/ newborn with dysmorphic
features, congenital malformations, developmental
delay, intellectual disability, consanguineous
parents, family history of genetic disorders, abnormal
prenatal ultrasound findings, recurrent pregnancy loss/
abortions, still births]
Microarray Minimum 3 ml EDTA Blood (postnatal
sample); POC/ abortus material in
sterile saline solution
4 weeks
12 Prenatal Chromosomal CGH microarray
– 750K Baby Array
[Indications: Fetus with dysmorphic features,
congenital malformations, consanguineous parents,
family history of genetic disorders, abnormal prenatal
ultrasound findings, recurrent pregnancy loss/
abortions, still births]
Microarray 15 ml Amniotic fluid in sterile plain
tube; chorionic villi sample in sterile saline;
POC/abortus material in sterile saline
4 weeks
13 BabyMap Non-Invasive Prenatal Testing (NIPT) –
Panorama [Indications: In high risk and precious
pregnancies – advanced parental age, high risk ratio
in maternal serum triple/ dual marker tests; abnormal
prenatal ultrasound findings]
NGS Peripheral blood (20 ml) from pregnant
woman in two Strep tube – tubes provided
on request
15 – 20
days
14 Breast cancer panel [Genes: BRCA1, BRCA2,
TP53, PTEN, STK11, CDH1, PALB2, CHEK2, ATM,
NBN, BARD1, BRIP1, RAD51C]
NGS 1 ug DNA or 2 ml EDTA Blood 5 – 6 weeks
15 BRCA Panel [BRCA1, BRCA2] NGS Minimum 2 ug DNA or 2 ml EDTA Blood 3 – 4 weeks
16 BRCA deletion/duplication MLPA Minimum 2 ug DNA or 2 ml EDTA Blood 3 weeks
17 Female infertility
[Genes: CYP21A2, FSHR, LHCGR,
BMP15, LHB, ZP1, FMR1]
NGS 1 ug DNA or 2ml EDTA Blood 5 – 6 weeks
18 Global infertility
[Genes: AR, CATSPER1, CFTR, FSHB, FSHR,
HESX1, LHB, LHCGR, NR5A1, POU1F1,
SRY/AZF]
NGS 1 ug DNA or 2ml EDTA Blood 5 – 6 weeks
19 Male infertility
[Genes: AR, CATSPER1, CFTR, FSHR, LHCGR, AZF]
NGS 1 ug DNA or 2ml EDTA Blood 5 – 6 weeks
20 Ovarian cancer
[Genes: BARD1, BRCA1, BRCA2, BRIP1, EPCAM,
MLH1, MRE11A, MSH2, MSH6, NBN, PMS1, PMS2,
RAD50, RAD51C, RAD51D, STK11, TP53]
NGS 1 ug DNA or 2ml EDTA Blood 5 – 6 weeks
21 Uterine cancer
[Genes: EPCAM, MLH1, MSH2, MSH6, PMS1,
PMS2, PTEN]
NGS 1 ug DNA or 2ml EDTA Blood 5 – 6 weeks
22 Whole Mitochondrial Genome
Sequencing
NGS 4 ml EDTA Blood in 2 separate tubes or
2 ug purified genomic DNA
4 – 5 weeks
23 NOTCH3 (CADASIL) gene
analysis – 2exons (2&3)
Sanger 2ml Blood/ 1ug DNA 10 days
24 Rett Syndrome – MECP2
deletion/duplication analysis
MLPA 2 ml EDTA Blood or 1 ug purified genomic DNA 3 – 4 weeks
25 TSC1 deletion/duplication
analysis
MLPA EDTA whole blood/Bone marrow aspirate 3 weeks
26 TSC2 deletion/duplication
analysis
MLPA EDTA whole blood/Bone marrow aspirate 3 weeks
27 Duchenne Muscular Dystrophy
(DMD) deletion/duplication
analysis
MLPA EDTA Blood or DNA 3 – 4 weeks
28 Spinal Muscular Atrophy
(SMN1/SMN2) deletion/duplication
analysis
MLPA EDTA Blood or DNA 3 – 4 weeks
29 Spinal muscular atrophy
(SMN1) gene analysis
Sanger 2ml Blood/ 1ug DNA 4 weeks
30 Spinal Muscular Atrophy
Deletion analysis
(exon 7 and 8 only)
MLPA 2 ml EDTA Blood 2 – 3 weeks
31 Spinal Muscular Atrophy
Carrier analysis
MLPA 2 ml EDTA Blood 2 – 3 weeks
32 Spinal Muscular Atrophy
SMN gene sequencing (exons 1 to 8)
Sanger 2 ml EDTA Blood 4 – 5 weeks
33 Targeted single exon
mutation analysis
Sanger EDTA Blood or DNA 3 – 4 weeks
34 Hereditary/Germline Cancer
Gene Panel
NGS 2 ml EDTA Whole Blood or 2 ug purified
genomic DNA or Bone Marrow Aspirate
6 weeks
35 Myotonic Dystrophy TP-PCR 2 ml EDTA Blood 4 – 5 weeks
36 Triplet Repeat Expansion
Associated Diseases-Huntington’s
Disease, Spinocerebellar Ataxias 1, 2, 3
and 6, DRPLA, Friedrich’s
Ataxia-any single disease
PCR 2 ml EDTA Blood 2 – 3 weeks
37 Triplet Repeat Expansion
Associated Diseases-Spinocerebellar
Ataxias 1, 2, 3 and 6-SCA panel
PCR 2 ml EDTA Blood 4 – 5 weeks
38 Hemophilia-A Carrier analysis
@ intragenic markers (BclI & XbaI
RFLP)
PCR 2 ml EDTA Blood 3 – 4 weeks
39 Hemophilia-B-Carrier analysis
@ intragenic markers (HhaI, DdeI,
TaqI)
PCR 2 ml EDTA Blood 3 – 4 weeks
40 Chronic Pancreatitis (N34S SPINK1 mutation) PCR 2 ml EDTA Blood 10-20 days
41 Cystic Fibrosis delta F508 mutation PCR 2 ml EDTA Blood 10-20 days
42 Cystic Fibrosis Four common
mutations (dF508, G542X, G551D,
R553X)
PCR 2 ml EDTA Blood 2 – 3 weeks
43 Cystic Fibrosis 5T mutation PCR 2 ml EDTA Blood 10-20 days
44 Cystic Fibrosis (CFTR) gene panel
deletion/duplication analysis
MLPA 2ml Blood/ 1ug DNA 3 weeks
45 Glucose 6 phosphate dehydogrenase
deficiency-Orissa, Mediterranean
and Kerala-Kalyan mutations
PCR 2 ml EDTA Blood 2 – 3 weeks
46 Severe Combined Immunodeficiency
Panel
NGS 2ml Blood/ 1ug DNA 6 weeks
47 Muscular Dystrophy and
Congenital Myopathy Gene Panel
NGS EDTA Blood or DNA 4 – 5 weeks
48 Polycystic kidney disease
gene panel (ARPKD PKHD1/ADPKD
PKD1 & PKD2)
NGS 2ml Blood/ 1ug DNA 6 weeks
49 Adrenoleukodystrophy NGS Gene
Panel
NGS 2ml Blood/ 1ug DNA 4 weeks
50 Metachromatic leukodystrophy
NGS Gene Panel (WES)
NGS 2ml Blood/ 1ug DNA 6 weeks
51 Ataxia-telangiectasia (ATM)
deletion/duplication analysis
MLPA 2ml Blood/ 1ug DNA 3 weeks
52 Charcot-Marie-Tooth and
sensory neuropathies gene panel
NGS 2ml Blood/ 1ug DNA 6 weeks
53 Charcot-Marie-Tooth PMP22
deletion/duplication analysis
MLPA 2ml Blood/ 1ug DNA 3 weeks
54 Leigh Syndrome & Mitochondrial
Encephalopathy Gene Panel
NGS EDTA Blood or DNA 6 – 7 weeks
55 DNA Isolation
-Buccal Swab
-Blood Sample
-Product of Conception (POC)/Abortus
Material
-Amniotic Fluid
– 1 Buccal Swab
– 2 ml EDTA blood
– Abortus Material
– 15 ml Amniotic
Fluid/CVS in
sterile saline
1 week
56 Fragile-X Syndrome CGG repeat
tract analysis by Amplidex Kit
PCR EDTA Blood 2 – 3 weeks
57 Duchenne and Becker Muscular
Dystrophy Deletion analysis for
24 exons
MLPA 2 ml EDTA Blood 2 – 3 weeks
58 Duchenne and Becker Muscular
Dystrophy Deletion analysis for
79 exons
MLPA 2 ml EDTA Blood 2 – 3 weeks
59 Muscular dystrophy and congenital
myopathy gene panel
NGS 2ml Blood/ 1ug DNA 4 weeks
60 Autism Panel NGS 1 ug DNA or 2 ml
EDTA Blood
4 – 6 weeks
61 Factor V Leiden G169-1A
Mutation
PCR 5ml EDTA Blood 1 week
62 Pre-coagulation profile Factor
V Leiden and Prothrombin
(G20210A) mutation
PCR 2 ml EDTA Blood 2 – 3 weeks
63 Pre-coagulation profile Single
mutation analysis (any of the above
two mutations)
Sanger 2 ml EDTA Blood 10-20 days
64 Factor II (Prothrombin)
G20210A Mutation
PCR 5ml EDTA Blood 9 days
65 Y Chromosome Microdeletions PCR 3ml EDTA Blood 1 – 2 weeks
66 MTHFR gene polymorphisms
677T>C and 1298A>C mutations
PCR 2 ml EDTA Blood 2 – 3 weeks
67 MTHFR gene analysis – 2 exons
(5 & 8)
Sanger 2ml Blood/ 1ug DNA 10 weeks
68 Sperm DNA Fragmentation Flow Cytometry Sperm Sample 1 week
69 Alpha-Thalassemia Testing
(5 common mutations)
PCR 3ml EDTA Blood 2 weeks
70 Alpha Thalassemia (HBA1 and HBA2)
deletion/duplication
analysis
MLPA EDTA Blood/DNA 3 – 4 weeks
71 Beta-Thalassemia Testing
(5 common mutations)
PCR 3ml EDTA Blood 1 – 2 weeks
72 Beta-Thalassemia Testing
(7 common mutations)
PCR 2ml EDTA Blood 2-3 weeks
73 Beta Thalassemia (HBB)
deletion/duplication analysis
MLPA EDTA Blood/DNA 3 – 4 weeks
74 Beta Thalasemmia : Screening
for specific mutation (as per the
request of doctor)
PCR 2ml EDTA Blood 10-20 days
75 Beta Thalasemmia Detection of
novel mutations (by sequencing)
PCR 2ml EDTA Blood 4-5 weeks
76 Sickle Cell Anemia PCR 2ml EDTA Blood 10-20 days
77 Hemoglobin-E Disease PCR 2ml EDTA Blood 10-20 days
78 Skeletal dysplasia gene panel (CLX) NGS 2ml Blood/ 1ug DNA 6 weeks
79 Maturity-Onset Diabetes
of the Young (MODY) & Neonatal
diabetes gene panel
NGS 2ml Blood/ 1ug DNA 6 weeks
80 Karyotyping – Prenatal Amniotic
Fluid by Karyotyping
Karyotype 20 ml Amniotic Fluid 3 weeks
81 Karyotyping – Prenatal Chorionic
Villus Biopsy by Karyotyping
Karyotype 30mg CVS in Medium or saline 3 weeks
82 Karyotyping – Prenatal Fetal
Cord Blood
Karyotype 4ml Fetal Cord Blood in
Sodium Heparin Vaccutainer
3 weeks
83 FISH – Prenatal Amniotic fluid FISH 20ml Amniotic Fluid 10 days
84 FISH – Prenatal Chorionic Villus
Biopsy
FISH 30mg CVS in Medium or Saline 10 days
85 FISH – Prenatal Fetal Cord blood FISH 4ml Fetal Cord Blood in Sodium Heparin
Vaccutainer
10 days
86 FISH – POC aneuploidy detection FISH 10gm CV in 2 sterile red top vaccutainers,
containing sterile saline with 3-4 drops of
Procaine Penicillin or Gentamycin
10 days
87 Karyotyping Reflex to FISH – POC Karyotype, FISH 10gm CV in 2 sterile red top vaccutainers,
containing sterile saline with 3-4 drops of
Procaine Penicillin or Gentamycin
3 weeks
88 FISH – SRY gene FISH 2ml Blood in Sodium Heparin Vacutainer 10 days
89 Sperm Aneuploidy Detection
(13, 21,18, X and Y)
FISH Frozen semen sample in sterile container 6 days
90 Rare Disease Panel NGS EDTA Blood/DNA 30 days
91 Rare Disease Panel (up to 2 genes) NGS EDTA Blood/DNA 30 days