S No Panel Genes Covered Sample type TAT
1 Aicardi-goutieres syndrome ADAR, IFIH1, TREX1, RNASEH2A, RNASEH2B,
RNASEH2C, SAMHD1
2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
2 MMG Neuro Over 200 genes related to neurology and
psychiatry (List available on request)
2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
3 Alzheimer dementia and Dementia APOE, APP, PRNP, PSEN1, PSEN2, SORL1,
TREM2
2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
4 Amyotrophic Lateral Sclerosis ALS2, ANG, ATXN2, C9orf72, CHMP2B, CHGB,
DCTN1, FIG4, FUS, NEFH, OPTN, PFN1, PRPH2,
SETX, SIGMAR1, SOD1, SPG20, TARDBP, UBQLN2,
VAPB, VCP, VEGFA, VPS54
2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
5 Autism spectrum disorders panel EN2, MECP2, NLGN3, NLGN4X, PDE8B, RPL10 2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
6 Bethlem Myopathy COL6A1, COL6A2, COL6A3, COL12A1 2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
7 Central hypoventilation syndrome RET, GDNF, EDN3, BDNF, ASCL1, PHOX2A, PHOX2B,
ZEB2, GFRA1, ECE1, MECP2
2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
8 Cerebellar ataxia panel ADCK3, APTX, COQ2, COQ9, DNMT1, FXN, PDSS1,
PDSS2,POLG, SACS, SETX, SYNE1, TTPA, VLDLR
2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
9 Cerebral cavernous malformations CCM2, KRIT1, PDCD10 2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
10 Ceroid lipofuscinosis CLN3, CLN5, CLN6,CLN8,CTSD,DNAJC5,MFSD8,
PPT1,TPP1
2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
11 CMT neuropathy axonal autosomal
dominant panel
AARS, ARHGEF10, DNM2, GAN, GARS, GDAP1,
DYNC1H1,HSPB8, HSPB1, KIF1B, LMNA, MED25,
MFN2, MPZ, NEFL,RAB7A, SLC12A6, TRPV4, YARS
2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
12 CMT neuropathy demyelinating CTDP1, EGR2, FGD4, FIG4, GDAP1, GJB1,
LITAF, MTMR2,MPZ, NDRG1, NEFL, PMP22, PRPS1,
PRX, SBF2, SH3TC2
2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
13 Coffin – Siris syndrome ARID1A, ARID1B, SMARCA4, SMARCB1, SMARCE1 2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
14 Congenital myasthenic syndrome AGRN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE,
CHRNG, COLQ, DOK7, GFPT1, LAMB2, MUSK, PLEC,
RAPSN, SCN4A
2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
15 Congenital myopathy ACTA1, BIN1, CCDC78, CFL2, CNTN1, DNM2, FHL1,
KBTBD13, MAMLD1, MTM1, MTMR14, MYF6, MYH7,NEB,
RYR1, SEPN1, TNNT1, TPM2, TPM3
2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
16 Craniosynostosis and craniofacial disorders EFNB1, ERF, FGFR1, FGFR2, FGFR3, FREM1, GLI3,
IFT43, IFT122, IL11RA, MEGF8, MSX2, POR, RAB23,
RECQL4,SKI, TCF12, TGFBR1, TGFBR2, TWIST1, WDR19,
WDR35
2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
17 Deafness, non-syndromic sensorineural
autosomal dominant
ACTG1, CCDC50, COCH, COL11A2, CRYM, DFNA5,
DIABLO, DIAPH1, DIAPH3, EYA4, GJB2, GJB3, GJB6,
GRHL2, KCNQ4, MIR96, MYH14, MYH9, MYO1A, MYO6,
MYO7A, POU3F4, POU4F3, PRPS1, SIX1, SLC17A8, SMPX,
TECTA, TJP2, TMC1, WFS1
2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
18 Deafness, non-syndromic
sensorineural autosomal recessive
CDH23, CLDN14, COL11A2, DFNB31, DFNB59, ESPN,
ESRRB, FOXI1, GIPC3, GJB2, GJB3, GJB6, GPSM2,
GRXCR1, HGF, ILDR1, KCNJ10, LHFPL5, LOXHD1,
LRTOMT, MARVELD2, MSRB3, MYO15A, MYO3A, MYO6,
MYO7A, OTOA, OTOF, PCDH15, POU3F4, PRPS1, PTPRQ,
RDX, SERPINB6, SLC12A1, SLC26A4,SLC26A5, SMPX,STRC,
TECTA, TMC1, TMIE, TMPRSS3, TPRN,TRIOBP,USH1C
2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
19 Dejerine-Sottas Syndrome MPZ, PMP22, PRX, EGR2, GJB1 2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
20 Dementia APOE, APP, C9orf72, CHMP2B, CSF1R, FUS,
GRN, MAPT,PRNP, PSEN1, PSEN2, SORL1, TARDBP,
TREM2, UBE3A,VCP
2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
21 Dopa-responsive dystonia GCH1, TH, SPR 2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
22 Dravet syndrome SCN1A, GABRG2, SCN2A, SCNA9A 2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
23 Early infantile epileptic encephalopathy ARX, CDKL5, SLC25A22, STXBP1, SPTAN1, SCN1A,
KCNQ2, KCNT1, ARHGEF9, PCDH19, PNKP, SCN2A,
SCN8A, PLCB1
2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
24 Epilepsy (absence) in childhood CACNA1H, GABRA1, GABRB3, GABRG2, JRK, SLC2A1 2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
25 Epilepsy (generalized) with febrile
seizures
GABRD, GABRG2, SCN1A, SCN1B, SCN2A, SCN9A 2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
26 Epilepsy (partial) hereditary CACNA1H, CACNB4, CHRNA2, CHRNA4, CHRNB2, CLCN2,
CPA6, DEPDC5, EFHC1, GABRA1, GABRB3, GABRD,
GABRG2, JRK, KCNMA1, KCNQ2, KCNQ3, KCNT1, LGI1,
MT-ATP6 , SCN1A,SCN1B, SCN2A, SCN8A, SCN9A,
SLC2A1, SRPX2
2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
27 Epileptic encephalopathy ACY1, ADSL, ALDH7A1, AMT, ARHGEF9, ARX, CDKL5,
CNTNAP2, CPT2, FOLR1, FOXG1, GABRG2, GAMT, GCSH,
GLDC, GRIN2A, GRIN2B, KCNJ10, KCNQ2, MAGI2,
MAPK10, MECP2, MTHFR, NRXN1, PCDH19, PLCB1,
PNKP, PNPO, PRRT2, RNASEH2A, RNASEH2B, RNASEH2C,
SAMHD1, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A,
SLC19A3, SLC25A22, SLC2A1, SLC9A6, SPTAN1, STXBP1,
TBCE, TCF4, TREX1, UBE3A, ZEB2
2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
28 Episodic ataxia CACNA1A, KCNA1, CACNB4, SLC1A3 2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
29 Familial hemiplegic migraine ATP1A2, CACNA1A, SCN1A 2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
30 Frontotemporal dementia CHMP2B, GRN, VCP, FUS, TARDBP, C9orf72, MAPT,
SIGMAR1, UBQLN2
2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
31 Holoprosencephaly CDON, FGF8, GLI2, GLI3, PTCH1, SHH, SIX3,
TGIF1, ZIC2
2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
32 Hyperekplexia ARHGEF9, GLRA1, GLRB, GPHN, SLC6A5 2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
33 Joubert syndrome AHI1, ARL13B, B9D1, B9D2, C5orf42, CC2D2A,
CEP290, CEP41, CSPP1, EXOC8, INPP5E, KIF7, MKS1,
NPHP1, NPHP3, OFD1, RPGRIP1L, TCTN1, TCTN2, TMEM138,
TMEM216, TMEM231, TMEM237, TMEM67, TTC21B, ZNF423
2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
34 Leigh syndrome and mitochondrial
encelopathy
ACAD9, ADCK3, AIFM1, APTX, ATPAF2, BCS1L,
C10ORF2, NDUFAF6, COQ2, COQ9, COX10, COX15,
COX6B1, DARS2, DGUOK, DLAT, DLD, DNM1L, ETFDH, ETHE1,
FASTKD2, FH,FOXRED1, GFER, GFM1, LRPPRC, MPV17,
NDUFA1, NDUFA10,NDUFA11, NDUFA2, NDUFA13,
NDUFAF1, NDUFAF2, NDUFAF4,NDUFS1, NDUFS2,
NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8,NDUFV1,
NDUFV2, NUBPL, NDUFA12, NDUFA9, NDUFAF5,
SDHA,PC, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2,
RARS2, SCO1,SCO2, SDHAF1, SUCLA2, SUCLG1, SURF1,
TACO1, TK2, TMEM70,TSFM, TTC19, TUFM, TYMP
2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
35 Leukodystrophy and peroxisomes biogenesis
disorders
ABCD1, AIMP1, ARSA, ASPA, BEST1, CSF1R, CYP27A1,
DARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, FA2H,
FAM126A, GALC, GFAP, GJC2, HEPACAM, HSPD1, MLC1,
NDUFV1, NOTCH3, PEX1, PEX10, PEX12, PEX13, PEX14,
PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7,
PLP1, POLR3A, POLR3B, PSAP, RNASEH2A, RNASEH2B,
RNASEH2C, RNASET2, SAMHD1, SDHA, SLC16A2, SOX10,
SUMF1, TREM2, TREX1, HSD17B4, LMNB1, PEX11B,
PHYH, SCP2, SDHAF1, TYROBP
2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
36 Limb-girdle muscular dystrophy ANO5, CAPN3, CAV3, DAG1, DNAJB6, DYSF, FKRP,
FKTN, LAMA2, LMNA, LMNA, MYOT, PLEC, POMGNT1,
POMT1, POMT2, SEPN1, SGCA, SGCB, SGCD, SGCG,
TCAP, TRIM32, TTN
2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
37 Lissencephaly panel ARX, DCX, NDE1, PAFAH1B1, POMT1, POMT2, RELN,
TUBA1A, YWHAE
2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
38 Marfan syndrome and related disorders ACTA2, COL3A1, COL5A1, COL5A2, FBN1, FBN2,
MYH11, SLC2A10, SMAD3, TGFBR1, TGFBR2
2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
39 Mental retardation, X-linked ABCD1, ACSL4, AFF2, AGTR2, AP1S2, ARHGEF6,
ARHGEF9, ARX, ATP6AP2, ATP7A, ATRX, BCOR, BRWD3,
CASK, CDKL5, CUL4B,DCX, DKC1, DLG3, ELK1, FANCB,
FGD1, FLNA, FMR1, FTSJ1, GDI1,GK, GPC3, GRIA3, HCCS,
HPRT1, HSD17B10, HUWE1, IDS, IGBP1,IL1RAPL1,
KIAA2022, KDM5C, KLF8, L1CAM, LAMP2,
MAGT1,MAOA, MBTPS2, MECP2, MED12, MID1, MTM1,
NDP, NDUFA1,NHS, NLGN3, NLGN4X, NSDHL, NXF5,
OCRL, OFD1, OPHN1, OTC,PAK3, PCDH19, PDHA1, PGK1,
PHF6, PHF8, PLP1, PORCN, PQBP1,PRPS1, RAB39B,
RPL10, RPS6KA3, SHROOM4, SLC16A2, SLC6A8,SLC9A6,
SMC1A, SMS, SOX3, SRPX2, SYN1, SYP, TIMM8A,TSPAN7,
UBE2A, UPF3B, ZCCHC12, ZDHHC9, ZDHHC15,
ZNF41,ZNF81, ZNF674, ZNF711
2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
40 Metabolic myopathies ABHD5, ACADVL, AGL, CPT2, ENO3, ETFA, ETFB,
ETFDH, GAA, GBE1, GYG1, GYS1, LDHA, LPIN1, PFKM,
PGAM2, PGK1, PGM1, PHKA1, PNPLA2, PRKAG2, PYGM,
SLC22A5, SLC25A20, TAZ
2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
41 Microcephaly AKT3, AP4M1, ASPM, CASK, CDK5RAP2, CENPJ,
CEP135, CEP152, CEP63, DNM1L, EFTUD2, IER3IP1,
KIF11, MCPH1, MRE11A, MSMO1, NDE1, NHEJ1,
NR2E1, PAFAH1B1, PCNT, PNKP, POMT1, SLC25A19,
STIL, TUBB2B, TUBGCP6, WDR62
2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
42 Myoclonic dystonia SGCE, DRD2, TOR1A 2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
43 Myoclonic epilepsy ASAH1, CACNB4, CERS1, CSTB, DRD2, EFHC1, EPM2A,
GABRA1, GABRD, GLDC, GOSR2, NEU1, NHLRC1, NOL3,
POLG, PRICKLE1, PRICKLE2, SCARB2, SGCE
2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
44 Myofibrillar myopathy BAG3, CRYAB, DES, DNAJB6, FHL1, FLNC,
LDB3, MYOT
2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
45 Myopathy-rhabdomyolysis ACADL, ACADM, ACADVL, ACAD9, AGL, AMPD1,
C10orf2, CPT1B, CPT2, ETFA, ETFB, GAA, GYS1,
HADHA, HADHB, LPIN1, OPA1, OPA3, PFKM, PGAM2,
PGM1, PHKA1, POLG, POLG2, PYGM, RRM2B, SUCLA2,
TK2, TYMP
2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
46 Nemaline myopathy NEB, ACTA1, CFL2, MTM1, TNNT1, TPM2, TPM3 2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
47 Neurofibromatosis NF1, NF2, SPRED1 2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
48 Neuronal migration disorders ACTB, ACTG1, ARFGEF2, ARX, COL18A1, COL4A1,
CPT2, DCX, EMX2, EOMES, FGFR3, FH, FKRP, FKTN,
FLNA, GPR56, IER3IP1, ISPD, LAMA2, LAMC3, LARGE,
MED12, MEF2C, OCLN, PAFAH1B1, PAX6, PEX7, POMGNT1,
POMT1, POMT2, PQBP1, RAB18, RAB3GAP1, RAB3GAP2,
RELN, SNAP29, SRPX2, TUBA1A, TUBA8, TUBB2B, TUBB3,
VDAC1, WDR62
2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
49 Noonan – CFC syndrome BRAF, CBL, HRAS, MAP2K1, KRAS, MAP2K2, NF1,
NRAS, RAF1, PTPN11, SHOC2, SOS1, SPRED1
2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
50 Oculomotor apraxia APTX, PIK3R5, PNKP, SETX 2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
51 Pantothenate kinase – associated
neurodegeneration
ATP13A2, C19orf12, CP, DCAF17, FA2H, FTL, PANK2,
PLA2G6, WDR45
2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
52 Parkinson’s disease SNCA, LRRK2, VPS35, PARK2, PINK1, PARK7, ATP13A2,
PLA2G6, FBXO7, DNAJC6
2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
53 Pontocerebellar hypoplasia CASK, TSEN2, TSEN34, TSEN54, OPHN1, RARS2, VRK1,
EXOSC3, CHMP1A
2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
54 SCA ATXN1, ATXN2, ATXN3, ATXN7, ATXN8, ATXN10, BEAN1,
ATN1, CACNA1A, NOP56, PPP2R2B, TBP, AFG3L2,
DNMT1, FGF14, IFRD1, ITPR1, KCNC3, KCND3, PDYN,
PRKCG, SPTBN2, TGM6, TTBK2, VAMP1
2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
55 Seckel syndrome ATR, RBBP8, CENPJ, CEP152, CEP63, ATRIP 2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
56 Skeletal dysplasia ciliopathy DYNC2H1, EVC, EVC2, IFT43, IFT80, IFT122, IFT140,
IFT172, NEK1, TCTN3, TTC21B, WDR19, WDR34, WDR35,
WDR60
2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
57 Skeletal dysplasia extended ALPL, ARSE, COL10A1, COL11A1, COL11A2, COL1A1,
COL1A2, COL2A1, DDR2, EBP, FGFR3, FLNB, HSPG2,
INPPL1, LBR, LIFR, MMP13, MMP9, NKX3-2, NSDHL,
PEX7, PTH1R, RMRP, SBDS, SLC26A2, SLC35D1, SOX9,
TRIP11, TRPV4
2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
58 Spastic paraplegia autosomal dominant ATL1, BSCL2, HSPD1, KIAA0196, KIF5A, NIPA1, REEP1,
RTN2, SLC33A1, SPAST, ZFYVE27
2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
59 Spastic paraplegia autosomal recessive AMPD2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ARL6IP1,
ARSI, B4GALNT1, C12orf65, C19orf12, CCT5, CYP2U1,
CYP7B1, DDHD1, DDHD2, ENTPD1, ERLIN1, ERLIN2,
FA2H, FLRT1, GBA2, GJC2, KIF1A, NT5C2, PLP1, PNPLA6,
REEP2, SPG11, SPG20, SPG21, SPG7, TECPR2, TFG, USP8,
VPS37A, WDR48, ZFR, ZFYVE26
2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
60 Ullrich congenital muscular dystrophy COL6A1, COL6A2, COL6A3 2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
61 Waardenburg syndrome EDN3, EDNRB, MITF, PAX3, SNAI2, SOX10, TYR 2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
62 Walker-Warburg syndrome FKRP, FKTN, ISPD, LARGE, POMT1, POMT2 2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
63 Spinal Muscular Atrophy Deletion analysis SMN – exon 7 and 8 only 2 ml EDTA Blood 2 – 3 weeks
64 Spinal Muscular Atrophy Carrier analysis
using MLPA
MLPA analysis 2 ml EDTA Blood 2-3 weeks
65 Spinal Muscular Atrophy SMN gene sequencing (exons 1 to 8) 2 ml EDTA Blood 4-5 weeks
66 Fragile-X Syndrome CGG repeat tract analysis by Amplidex Kit 2 ml EDTA Blood 10-20 days
67 Myotonic Dystrophy TP-PCR based analysis 2 ml EDTA Blood 4-5 weeks
68 Triplet Repeat Expansion Associated
Diseases-Huntington’s Disease,
Spinocerebellar Ataxias 1, 2, 3 and 6,
DRPLA, Friedrich’s Ataxia-any single disease
2 ml EDTA Blood 2-3 weeks
69 Triplet Repeat Expansion Associated
Diseases-Spinocerebellar Ataxias 1, 2, 3 and 6
SCA panel 2 ml EDTA Blood 4-5 weeks
70 Clopidogrel Dosage CYP2C19*2 & CYP2C19*3 by RT-PCR 2 ml EDTA Blood or 1ug DNA 7 days
71 Warfarin Dosage VKORC1 (c.-1639 G>A), CYP2C9*2, CYP2C9*3 &
CYP2C9*13 by Sanger Sequencing
2 ml EDTA Blood or 1ug DNA 7 days
72 Adrenoleukodystrophy NGS gene panel 2 ml EDTA Blood or 1ug DNA 4 weeks
73 Metachromatic leukodystrophy NGS
gene panel
2 ml EDTA Blood or 1ug DNA 6 weeks
74 Ataxia-telangiectasia ATM deletion/duplication analysis by MLPA
analysis
2 ml EDTA Blood or 1ug DNA 3 weeks
75 Charcot-Marie-Tooth and sensory
neuropathies gene panel
2 ml EDTA Blood or 1ug DNA 6 weeks
76 Charcot-Marie-Tooth PMP22 deletion/duplication analysis by
MLPA analysis
<2 ml EDTA Blood or 1ug DNA 3 weeks
77 Muscular dystrophy and congenital
myopathy gene panel
2 ml EDTA Blood or 1ug DNA 4 weeks
78 Spinal muscular atrophy SMN1 by Sanger Sequencing 2 ml EDTA Blood or 1ug DNA 4 weeks
79 Spinal muscular atrophy SMN1 and SMN2 deletion/duplication analysis by MLPA 2 ml EDTA Blood or 1ug DNA 3 weeks
80 Duchenne Muscular Dystrophy DMD deletion/duplication analysis by
MLPA
2 ml EDTA Blood or 1ug DNA 3 weeks
81 Comprehensive neurology panel NGS gene
panel
2 ml EDTA Blood or 1ug DNA 6 weeks
82 NOTCH3 (CADASIL) gene analysis NOTCH3 exon 2 and 3 by Sanger Sequencing 2 ml EDTA Blood or 1ug DNA 10 days
83 Rett Syndrome MECP2 deletion/duplication analysis
by MLPA
2 ml EDTA Blood or 1ug DNA 3 weeks
84 Hereditary/Germline cancer gene panel EDTA whole blood/Bone marrow aspirate 6 weeks
85 Karyotyping Analysis (single) N/A Sodium Heparin (Na Heparin) Blood
(3 ml in green capped vacutainer)
2 weeks
86 Karyotyping Analysis (Couple) N/A Sodium Heparin (Na Heparin) Blood
(3 ml in green capped vacutainer)
2 weeks
87 Chromosomal CGH microarray – 750K
Array
N/A Minimum 3 ml EDTA Blood (postnatal
sample); POC/ abortus material in sterile
saline solution
4 weeks
88 Whole Exome Sequencing (WES) ~23,000 protein coding genes of the
genome
1 ug DNA or 2 ml EDTA Blood 7 – 8 weeks
89 Whole Exome Sequencing (WES)Trio ~23,000 protein coding genes of the
genome
1 ug DNA or 2 ml EDTA Blood 7 – 8 weeks
90 Whole Genome Sequencing (WGS) All genes in the genome Minimum 4ug DNA or 4 ml EDTA Blood
(collected in 2 separate tubes)
8 weeks