S No Panel Genes Covered Sample type TAT
1 Afibrinogenemia FGG, FGB, FGA 2 ug or 2 ml EDTA Blood 7 – 8 weeks
2 Agammaglobulinemia BLNK, BTK, CD79A, CD79B, IGHM, IGLL1,
LRRC8A, PIK3R1, SH2D1A
2 ug or 2 ml EDTA Blood 7 – 8 weeks
3 Ashkenazi mutation panel Advanced GBA (8 mutations), CFTR (26 mut), HEXA(7 mut),
IKBKAP(2 mut), ASPA (4 mut), G6PC (2 mut),
ABCC8 (2 mut), MCOLN1 (2 mut), BCKDHB (3 mut),
FANCC (2 mut), DLD (2 mut), SMPD1 (4 mut),
CLRN1 (1 mut), PCDH15 (1mut), BLM (1 mut),
NEB (1 mut), BRCA1 (2 mut), BRCA2 (1 mut)
>= 2 ug DNA or >= 1 ml EDTA
Blood or >= 1
filter card
20 days
4 Ashkenazi mutation panel Basic HEXA (7 mutations), IKBKAP (2 mut),
ASPA (4 mut), MCOLN1 (2 mut), FANCC (2 mut),
SMPD1 (4 mut), BLM (1 mut)
>= 2 ug DNA or >= 1 ml EDTA
Blood or >= 1
filter card
20 days
5 Bardet Biedl panel ALMS1, ARL6, BBS1, BBS10, BBS12, BBS2, BBS4,
BBS5, BBS7, BBS9, CCDC28B, CEP290, LZTFL1, MKKS,
MKS1, SDCCAG8, TRIM32, TTC8, WDPCP
2 ug or 2 ml EDTA Blood 7 – 8 weeks
6 Mitochondrial gene Panel AARS2, AASS, ABAT, ABCB6, ABCB7, ABCD1, ABCD3,
ACACA, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL,
ACAT1, ACO2, ACOX1, ACSF3, ACSL4, ADCK3, ADCK4,
AFG3L2, AGK, AGXT, AIFM1, AK2, ALAS2, ALDH18A1,
ALDH2, ALDH3A2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1,
AMACR, AMT, APOPT1, ATIC, ATP5A1, ATP5E, ATP7B,
ATPAF2, ATXN2, AUH, BAX, BCKDHA, BCKDHB, BCKDK,
BCL2, BCS1L, BOLA3, BRIP1, BTD, C10orf2, C12orf65,
CA5A, CASP8, CAT, CHCHD10, CISD2, CLPB, CLPP, COA5,
COA6, COASY, COMT, COQ2, COQ4, COQ6, COQ9, COX10,
COX14, COX15, COX20, COX4I2, COX6A1, COX6B1, COX7B,
CPOX, CPS1, CPT1A, CPT1C, CPT2, CRBN, CYB5A, CYB5R3,
CYC1, CYCS, CYP11A1, CYP11B1, CYP11B2, CYP24A1,
CYP27A1, CYP27B1, D2HGDH, DARS2, DBT, DECR1, DGUOK,
DHCR24, DHODH, DHTKD1, DIABLO, DLAT, DLD, DMGDH,
DMPK, DNA2, DNAJC19, DNAJC3, DNM1L, EARS2, ECHS1,
EHHADH, ELAC2, EPHX2, ETFA, ETFB, ETFDH, ETHE1,
FARS2, FASTKD2, FBXL4, FECH, FH, FKBP10, FOXRED1,
FTH1, FXN, GARS, GATM, GCDH, GCSH, GDAP1, GFER,
GFM1, GFM2, GK, GLDC, GLRX5, GLUD1, GLYCTK, GPI,
GPT2, GPX1, GRHPR, GSR, GTPBP3, HADH, HADHA, HADHB,
HARS2, HAX1, HCCS, HIBCH, HINT1, HK1, HLCS, HMBS,
HMGCL, HMGCS2, HOGA1, HSD17B10, HSD17B4, HSD3B2,
HSPA9, HSPD1, HTRA2, IARS2, IBA57, IDH2, IDH3B,
ISCA2, ISCU, IVD, KARS, KIF1B, KRT5, L2HGDH, LARS2,
LIAS, LIPT1, LONP1, LRPPRC, LYRM4, LYRM7, MAOA, MAOB,
MARS2, MCCC1, MCCC2, MCEE, MFN2, MGME1, MICU1, MIP,
MLH1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MOCS1, MPC1,
MPV17, MRPL3, MRPL44, MRPS16, MRPS22, MSRB3, MTFMT,
MTO1, MTPAP, MTRR, MUT, MUTYH, NADK2, NAGS, NARS2,
NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA4,
NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5,
NDUFAF6, NDUFB11, NDUFB3, NDUFB9, NDUFS1, NDUFS2,
NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1,NDUFV2,
NFU1, NNT, NTHL1, NUBPL, OAT, OGDH, OGG1, OPA1, OPA3,
OTC, OXCT1, P4HB, PAM16, PANK2, PARK7, PC, PCCA, PCCB,
PCK2, PDHA1, PDHB, PDHX, PDK3, PDP1, PDSS1, PDSS2,
PDX1, PET100, PEX11B, PHYH, PINK1, PKLR, PNPLA8, PNPO,
PNPT1, POLG, POLG2, PPM1K, PPOX, PRODH, PTGS1, PTRF,
PTRH2, PTS, PUS1, PYCR1, PYCR2, QDPR, RARS, RARS2,
RDH11, RECQL4, RMND1, RNASEH1, RNASEL, RPIA, RPL35A,
RPS14,RRM2B, SARDH, SARS2, SCO1, SCO2, SCP2, SDHA,
SDHAF1, SDHAF2, SDHB, SDHC, SDHD, SECISBP2, SERAC1,
SFXN4, SLC16A1, SLC19A3, SLC25A1, SLC25A12, SLC25A13,
SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A3,
SLC25A38, SLC25A4, SLC25A46, SLC37A4, SLC9A6, SNAP29,
SOD1, SOD2, SPG7, SPR, SPTLC2, STAR, STOM, SUCLA2,
SUCLG1, SUGCT, SUOX, SURF1, TACO1, TARS2, TCIRG1,
TIMM44, TIMM8A, TK2, TMEM126A, TMEM70, TMLHE, TPI1,
TPK1, TRMU, TRNT1, TSFM, TTC19, TUBB3, TUFM, TXNRD2,
TYMP, UNG, UQCC2, UQCRB, UQCRC2, UQCRQ, VARS2, WDR81,
WFS1, XPNPEP3, YARS2 + complete coverage of
mitochondrial genome
2 ug or 2 ml EDTA Blood 7 – 8 weeks
7 Mito Genome Panel MT-ND1, MT-ND2, MT-CO1, MT-CO2, MT-ATP8, MT-ATP6,
MT- CO3, MT-ND3, MT-ND4L, MT-ND4, MT-ND5, MT-ND6,
MT-CYB, MT-TF, MT-RNR1, MT-TV, MT-RNR2, MT-TL1, MT-
TI, MT-TQ, MT-TM, MT-TW, MT-TA, MT-TN, MT-TC, MT-TY,
MT-TS1, MT-TD, MT-TK, MT-TG, MT-TR, MT-TH, MT-TS2,
MT-TL2, MT-TE, MT-TT, MT-TP
>= 2 ug DNA or >= 1 ml EDTA
Blood or >= 1 filter cards
25 days
8 Common variable immune deficiency (CVID) ICOS, NFKB2, TNFRSF13B, TNFRSF13C 2 ug or 2 ml EDTA Blood 7 – 8 weeks
9 SCID ADA, AK2, CD3D, CD3E, CD247, DCLRE1C, FOXN1, IL2RG,
IL7R, JAK3, LIG4, NHEJ1, ORAI1, PNP, PTPRC, RAC2, RAG1,
RAG2, RMRP, STAT5B, STIM1, TBX1, ZAP70
2 ug or 2 ml EDTA Blood 7 – 8 weeks
10 Diamond-Blackfan anemia RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24,
RPS26, RPS7
2 ug or 2 ml EDTA Blood 7 – 8 weeks
11 Dolichoectasia COL4A1, COL4A2, GAA, MMP3, PKD1, PKD2, SLC2A10 2 ug or 2 ml EDTA Blood 7 – 8 weeks
12 Ehlers-Danlos syndrome and
related disorders
ADAMTS2, ATP7A, CHST14, COL1A1, COL1A2, COL3A1,
COL5A1, COL5A2, FKBP14, FLNA, PLOD1, SLC39A13, TNXB
2 ug or 2 ml EDTA Blood 7 – 8 weeks
13 Fanconi anemia BRCA2, BRIP1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF,
FANCG, FANCI, FANCL, FANCM, PALB2, SLX4, XRCC2
2 ug or 2 ml EDTA Blood 7 – 8 weeks
14 Hemophagocytic Lymphohistiocytosis PRF1, UNC13D, STX11, STXBP2 2 ug or 2 ml EDTA Blood 7 – 8 weeks
15 Hereditary hemorrhagic telangiectasia ACVRL1, ADAM17, ENG, GDF2, PTPN14, RASA1, SMAD4 2 ug or 2 ml EDTA Blood 7 – 8 weeks
16 Malignant hyperthermia CACNA1S, RYR1 2 ug or 2 ml EDTA Blood 7 – 8 weeks
17 Megaloblastic Anaemia AMN, CUBN, GIF 2 ug or 2 ml EDTA Blood 7 – 8 weeks
18 Mucopolysaccharidosis ARSB, GALNS, GLB1, GNPTAB, GNPTG, GNS, GUSB,
HGSNAT, IDS, IDUA, NAGLU, SGSH
2 ug or 2 ml EDTA Blood 7 – 8 weeks
19 Multiple endocrine neoplasias/ paraganglioma/
pheochromocytoma
CDKN1B, MAX, MEN1, RET, SDHA, SDHAF2, SDHB,
SDHC, SDHD, TMEM127, VHL
2 ug or 2 ml EDTA Blood 7 – 8 weeks
20 Periodic fever syndrome ELANE, LPIN2, MEFV, MVK, NLRP3, PSTPIP1,
TNFRSF1A
2 ug or 2 ml EDTA Blood 7 – 8 weeks
21 Refsum disease PEX1, PEX2, PEX26, PEX7, PHYH 2 ug or 2 ml EDTA Blood 7 – 8 weeks
22 Spherocytosis ANK1, EPB42, SLC4A1, SPTA1, SPTB 2 ug or 2 ml EDTA Blood 7 – 8 weeks
23 Stickler Syndrome COL2A1, COL9A1, COL9A2, COL11A1, COL11A2 2 ug or 2 ml EDTA Blood 7 – 8 weeks
24 Susceptibility to atypical
mycobacterium disease
CYBB, IFNGR1, IFNGR2, IKBKG, IL12A, IL12RB2,
IL12B, IL12RB1, IRF8, ISG15, STAT1, TYK2
2 ug or 2 ml EDTA Blood 7 – 8 weeks
25 Thrombocytopenia ADAMTS13, ANKRD26, CYCS, GATA1, GP1BA, GP1BB,
GP9, ITGA2B, ITGB3, MASTL, MPL, MYH9, RUNX1, WAS
2 ug or 2 ml EDTA Blood 7 – 8 weeks
26 Usher syndrome CDH23, CIB2, CLRN1, DFNB31, GPR98, MYO7A, PCDH15,
PDZD7, USH1C, USH1G, USH2A
2 ug or 2 ml EDTA Blood 7 – 8 weeks
27 Zellweger syndrome PEX1, PEX2, PEX3, PEX5, PEX6, PEX10, PEX12,
PEX13, PEX14, PEX16, PEX19, PEX26
2 ug or 2 ml EDTA Blood 7 – 8 weeks
28 BabyMap Newborn/Metabolic
screening
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
Minimum 3 ug DNA or 1 ml
EDTA Blood or 1 Dried blood
filter card
10 – 12 working days
29 BabyMap Carrier Screening for couples 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
Minimum 3 ug DNA or 1 ml
EDTA Blood or 1 Dried blood
filter card
10 – 12 working days
30 BabyMap Family (Parents + Baby) 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
Minimum 3 ug DNA or 1 ml
EDTA Blood or 1 filter card
10 – 12 working days
31 Hemophilia-A Carrier analysis
at intragenic markers
BclI & XbaI by RFLP 2 ml EDTA blood 3 – 4 weeks
32 Hemophilia-B-Carrier analysis at
intragenic markers
HhaI, DdeI, TaqI 2 ml EDTA blood 3 – 4 weeks
33 Chronic Pancreatitis N34S SPINK1 mutation 2 ml EDTA blood 10 – 20 days
34 Hereditary Haemochromatosis H63D and C282Y mutations 2 ml EDTA blood 2 – 3 weeks
35 Mitochondrial encephalopathy LHON – 3 mutations (G3460A, G11778A, T14484C) 2 ml EDTA blood 3 – 4 weeks
36 Mitochondrial encephalopathy –
Leigh’disease
3 mutations (T12706C, A13084T, G13513A) 2 ml EDTA blood 3 – 4 weeks
37 Mitochondrial encephalopathy Specific mutation as per the request of
referring doctor
2 ml EDTA blood 10 – 20 days
38 Non-Syndromic Hearing Loss (NSHL) GJB2 exon 2 screening (by sequencing) 2 ml EDTA blood 2 – 3 weeks
39 Clopidogrel Dosage CYP2C19*2 & CYP2C19*3 by RT-PCR 2 ml EDTA blood/ 1 ug DNA 7 days
40 Warfarin Dosage VKORC1 (c.-1639 G>A), CYP2C9*2, CYP2C9*3 &
CYP2C9*13 by Sanger Sequencing
2 ml EDTA blood/ 1 ug DNA 7 days
41 Maturity-Onset Diabetes of the
Young (MODY) & Neonatal diabetes
gene panel
2 ml EDTA blood/ 1 ug DNA 6 weeks
42 MTHFR gene analysis MTHFR – 2 exons (5 & 8) by Sanger Sequencing 2 ml EDTA blood/ 1 ug DNA 10 weeks
43 Leigh syndrome & mitochondrial encephalopathy
gene panel
2 ml EDTA blood/ 1 ug DNA 6 weeks
44 Factor II (Prothrombin) G20210A 5 ml EDTA blood 9 days
45 Factor V Leiden G169-1A 5 ml EDTA blood 4 days
46 DNA Isolation N/A 2 ml EDTA blood 2 days
47 Karyotyping Analysis (single) N/A Sodium Heparin (Na Heparin) Blood
(3 ml in green capped
vacutainer)
2 weeks
48 Karyotyping Analysis (Couple) N/A Sodium Heparin (Na Heparin) Blood
(3 ml in green capped
vacutainer)
2 weeks
49 Chromosomal CGH microarray –
750K Baby Array
N/A Minimum 3 ml EDTA Blood
(postnatal sample); POC/ abortus material
in sterile saline solution
4 weeks
50 Whole Exome Sequencing (WES) ~23,000 protein coding genes of the genome 1 ug DNA or 2 ml EDTA Blood 7 – 8 weeks
51 Whole Exome Sequencing (WES) Trio ~23,000 protein coding genes of the genome 1 ug DNA or 2 ml EDTA Blood 7 – 8 weeks
52 Whole Genome Sequencing (WGS) All genes in the genome Minimum 4ug DNA or 4 ml
EDTA Blood (collected in 2 separate
tubes)
8 weeks
53 Targeted single exon mutation analysis Single exon of the indicated gene EDTA Blood or DNA 3 – 4 weeks