Advanced Molecular Genetics Tests

List of Advanced Molecular Tests

Advanced molecular techniques such as Next Generation Sequencing and Microarray methods are used to identify Single Nucleotide Mutations (SNMs), Single Nucleotide Polymorphisms (SNPs), deletions and duplications. Multiple genes associated with the genetic condition are analyzed for accurate detection.

Multi-gene Panel Testing
Sequencing of a set of genes for a set of genetic disorders. List of panels available are listed below separately.

EXOME Sequencing
Sequencing of all functional genes

Microarray Assay
750K full gene array for syndrome identification

Preimplantation Genetic Diagnosis (PGD)
Genetic testing on pre-implanted embryonic cells for specific disorders. 

Non-Invasive Prenatal Diagnostic Test (NIPT )
Prenatal screening for down syndrome using advanced molecular technologies. 

 

LIST OF MULTI-GENE PANELS AVAILABLE

Aortic aneurysm hereditary thoracic panel
MYH11 ACTA2 TGFBR1 TGFBR2 FBN1 COL3A1 SMAD3 CBS FBN2 SLC2A10 MYLK TGFB2
Cardiology

Arrhythmia herditary panel 
AKAP9 ANK2 CACNA1C CACNB2 CASQ2 CAV3 DSC2 DSG2 DSP GPD1L JUP KCNA5 KCNE1 KCNE2 KCNE3 KCNH2 KCNJ2 KCNQ1 NPPA PKP2 PLN RYR2 SCN1B SCN3B SCN4B SCN5A SNTA1 TGFB3 TMEM43
Cardiology

Arrhythmogenic right ventricular cardiomyopathy panel
DSP DSG2 DSC2 JUP PKP2 RYR2 TGFB3 TMEM43
Cardiology

Brugada syndrome panel 
CACNA1C CACNB2 GPD1L HCN4 KCNE3 SCN1B SCN3B SCN5A SLMAP
Cardiology

Cardiomyopathy dilated panel 
ABCC9 ACTC1 ACTN2 BAG3 CSRP3 DES DMD DSG2 EYA4 FKTN GATAD1 LAMP2 LDB3 LMNA MYBPC3 MYH6 MYH7 NEXN PLN PSEN1 MT-ND1 MT-ND5 MT-ND6 MT-TD MT-TH MT-TI MT-TK MT-TL1 MT-TL2 MT-TM
Cardiology

Cardiomyopathy hypertrophic panel
ACTC1 CALR3 CAV3 CSRP3 GLA JPH2 LAMP2 MYBPC3 MYH6 MYH7 MYL2 MYL3 MYLK2 MYOZ2 NEXN PLN PRKAG2 SLC25A4 TNNC1 TNNI3 TNNT2 TPM1 TTN TTR VCL
Cardiology

Catecholaminergic polymorphic ventricular tachycardia panel
RYR2 CASQ2 KCNJ2
Cardiology

Long QT syndrome panel 
AKAP9 ANK2 CACNA1C CAV3 KCNE1 KCNE2 KCNH2 KCNJ2 KCNJ5 KCNQ1 SCN4B SCN5A SNTA1
Cardiology

Marfan syndrome and related disorders panel
ACTA2 COL3A1 COL5A1 COL5A2 FBN1 FBN2 MYH11 SLC2A10 SMAD3 TGFBR1 TGFBR2
Cardiology

Ceroid lipofuscinosis panel 
CLN3 CLN5 CLN6 CLN8 CTSD DNAJC5 MFSD8 PPT1 TPP1
Metabolic

Diabetes neonatal panel 
ABCC8, FOXP3, G6PC2, GCK, GLIS3, INS, INSR, KCNJ11, NEUROG3, PDX1
Metabolic

Diamond-Blackfan anemia 
RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS7
Metabolic

Familial hypercholesterolemia panel 
APOB, GHR, LDLR, PCSK9
Metabolic

Glycogen storage disease panel (advanced)
GYS1, GYS2, G6PC, SLC37A4, GAA, AGL, GBE1, PYGM, PYGL, PFKM, PHKA2, PGAM2, LDHA, ALDOA, ENO3, PHKB, PHKA1, PGM1, GYG1, PRKAG2, PHKG2
Metabolic

Glycogen storage disease panel (basic)
G6PC, SLC37A4, AGL, GBE1
Metabolic

Glycosylation disorder panel
ALG1, ALG2, ALG3, ALG6, ALG8, ALG9, ALG12, ALG13, B4GALT1, COG1, COG4, COG5, COG6, COG7, COG8, DOLK, DPAGT1, DPM1, DPM3, MGAT2, MOGS, MPDU1, MPI, PMM2, RFT1, SLC35A1, SLC
Metabolic

Leigh syndrome and mitochondrial encephalopathy panel 
ACAD9, ADCK3, AIFM1, APTX, ATPAF2, BCS1L, C10ORF2, NDUFAF6, COQ2, COQ9, COX10, COX15, COX6B1, DARS2, DGUOK, DLAT, DLD, DNM1L, ETFDH, ETHE1, FASTK
Metabolic

Lysosomal storage disease panel
ARSA, FUCA1, GALC, GBA, GLB1, GNPTAB, GUSB, HEXA, HEXB, MAN2B1, MANBA, NAGA, SMPD1
Metabolic

Methylmalonic acidemia panel (advanced)
ABCD4, ACSF3, CD320, LMBRD1, MCEE, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MTR, MTRR, MUT, SUCLA2, SUCLG1
Metabolic

Methylmalonic acidemia panel (basic)
MCEE, MMAA, MMAB, MMADHC, MUT
Metabolic

MODY panel
ABCC8, BLK, CEL, GCK, HNF1A, HNF1B, HNF4A, INS, KLF11, NEUROD1, NKX2-2, PAX4, PDX1, RFX6, ZFP57
Metabolic

Mucopolysaccharidosis panel
ARSB, GALNS, GLB1, GNPTAB, GNPTG, GNS, GUSB, HGSNAT, IDS, IDUA, NAGLU, SGSH
Metabolic

Refsum disease panel 
PEX1, PEX2, PEX26, PEX7, PHYH
Metabolic

Surfactant metabolism dysfunction panel
ABCA3, CSF2RA, CSF2RB, SFTPA1, SFTPB, SFTPC, SFTPD
Metabolic

Urea cycle disorder panel 
ARG1, ASL, ASS1, CPS1, NAGS, OTC
Metabolic

Zellweger syndrome panel 
PEX1, PEX2, PEX3, PEX5, PEX6, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX26
Metabolic

Aicardi-Goutieres syndrome panel
ADAR, IFIH1, TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1
Neurology

Alzheimer dementia and dementia panel 
APOE, APP, PRNP, PSEN1, PSEN2, SORL1, TREM2
Neurology

Amyotrophic lateral sclerosis (ALS) panel 
ALS2, ANG, ATXN2, C9orf72, CHMP2B, CHGB, DCTN1, FIG4, FUS, NEFH, OPTN, PFN1, PRPH2, SETX, SIGMAR1, SOD1, SPG20, TARDBP, UBQLN2, VAPB, VCP, VEGFA, VPS54
Neurology

Autism spectrum disorders panel 
EN2, MECP2, NLGN3, NLGN4X, PDE8B, RPL10
Neurology

Bethlem myopathy panel
COL6A1, COL6A2, COL6A3, COL12A1
Neurology

Cerebellar ataxia panel
ADCK3, APTX, COQ2, COQ9, DNMT1, FXN, PDSS1, PDSS2, POLG, SACS, SETX, SYNE1, TTPA, VLDLR
Neurology

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
Neurology

CMT neuropathy demyelinating panel
CTDP1, EGR2, FGD4, FIG4, GDAP1, GJB1, LITAF, MTMR2, MPZ, NDRG1, NEFL, PMP22, PRPS1, PRX, SBF2, SH3TC2
Neurology

Congenital myasthenic syndrome panel
AGRN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COLQ, DOK7, GFPT1, LAMB2, MUSK, PLEC, RAPSN, SCN4A Neurology

Dejerine-Sottas syndrome panel
MPZ, PMP22, PRX, EGR2, GJB1
Neurology

Dementia panel
APOE, APP, C9orf72, CHMP2B, CSF1R, FUS, GRN, MAPT, PRNP, PSEN1, PSEN2, SORL1, TARDBP, TREM2, UBE3A, VCP
Neurology

Dopa-responsive dystonia panel
GCH1, TH, SPR
Neurology

Dravet syndrome panel 
SCN1A, GABRG2, SCN2A, SCN9A
Neurology

Dystonia panel
TOR1A, THAP1, GCH1, TH, SPR, SLC2A1, CIZ1, PRRT2, PNKD
Neurology

Early infantile epileptic encephalopathy panel
ARX, CDKL5, SLC25A22, STXBP1, SPTAN1, SCN1A, KCNQ2, KCNT1, ARHGEF9, PCDH19, PNKP, SCN2A, SCN8A, PLCB1 Neurology

Epilepsy (absence) in childhood panel
CACNA1H, GABRA1, GABRB3, GABRG2, JRK, SLC2A1
Neurology

Epilepsy (generalized) with febrile seizures panel
GABRD, GABRG2, SCN1A, SCN1B, SCN2A, SCN9A
Neurology

Epilepsy (partial) hereditary panel 
CACNA1H, CACNB4, CHRNA2, CHRNA4, CHRNB2, CLCN2, CPA6, DEPDC5, EFHC1, GABRA1, GABRB3, GABRD, GABRG2, JRK, KCNMA1, KCNQ2, KCNQ3, KCNT1, LGI1, MTATP6 , SCN1A, SCN1B
Neurology

Epileptic encephalopathy panel
ACY1, ADSL, ALDH7A1, AMT, ARHGEF9, ARX, CDKL5, CNTNAP2, CPT2, FOLR1, FOXG1, GABRG2, GAMT, GCSH, GLDC, GRIN2A, GRIN2B, KCNJ10, KCNQ2, MAGI2, MAPK10, MECP2, MTHFR, NRXN1
Neurology

Episodic ataxia panel 
CACNA1A, CACNB4, KCNA1, SLC1A3
Neurology

Familial hemiplegic migraine panel
ATP1A2, CACNA1A, SCN1A
Neurology

Albinism panel
C10ORF11, GPR143, LYST, MC1R, MITF, MYO5A, OCA2, RAB27A, SLC45A2, TYR, TYRP1
Ophthalmology

Cataract panel
AGK, CRYAA, CRYAB, CRYBB1, CRYBB3, CTDP1, FYCO1, GCNT2, GJA8, HSF4, LIM2, SIL1, TDRD7
Ophthalmology

Cone-rod and cone dystrophy panel 
ABCA4, ADAM9, AIPL1, BEST1, C8ORF37, CABP4, CACNA1F, CACNA2D4, CDHR1, CERKL, CNGB3, CNNM4, CRX, GUCA1A, GUCY2D, KCNV2, PDE6C, PDE6H, PITPNM3, PROM1, PRPH2
Ophthalmology

Flecked retina panel
CHM, EFEMP1, PLA2G5, RDH5, RLBP1, RS1, VPS13B
Ophthalmology

Hermansky-Pudlak syndrome panel
HPS1, AP3B1, HPS3, HPS4, HPS5, HPS6, DTNBP1, BLOC1S3
Ophthalmology

Leber congenital amaurosis panel 
AIPL1, CABP4, CEP290, CRB1, CRX, GUCY2D, IMPDH1, IQCB1, KCNJ13 , LCA5, LRAT, NMNAT1, OTX2, RD3, RDH12, RPE65, RPGRIP1, SPATA7, TULP1
Ophthalmology

Microphthalmia panel
ALDH1A3, BCOR, BMP4, HCCS, MITF, OTX2, RAX, SIX6, SOX2, STRA6, TENM1, TENM3, VSX2
Ophthalmology

Oculomotor apraxia panel
APTX, PIK3R5, SETX
Ophthalmology

Ophthalmoplegia (progressive external) panel 
C10ORF2, DNA2, OPA1, POLG, POLG2, RRM2B, SLC25A4, TYMP
Ophthalmology

Optic atrophy panel
AUH, C12ORF65, CISD2, NDUFS1, OPA1, OPA3, POLG, SPG7, TIMM8A, TMEM126A, WFS1
Ophthalmology

Retinitis pigmentosa panel, autosomal dominant
ABCA4, BEST1, CA4, CRX, CLRN1, FSCN2, GUCA1B, IMPDH1, KLHL7, NR2E3, NRL, PRPF3, PRPF31, PRPF6, PRPF8, PRPH2, RDH12, RGR, RHO, ROM1, RP1, RP2
Ophthalmology

Retinitis pigmentosa panel, autosomal recessive
ABCA4, ARL6, BBS1, BEST1, C2ORF71, C8ORF37, CERKL, CNGA1, CNGB1, CRB1, DHDDS, EYS, FAM161A, FLVCR1, GNPTG, IDH3B, IMPG2, LRAT, MAK, MERTK
Ophthalmology

Stargardt disease panel 
ABCA4, BEST1, C1QTNF5, CDH3, CNGB3, ELOVL4, FSCN2, PROM1, PRPH2, RDH12, RP1L1, RPGR, TIMP3
Ophthalmology

Stickler syndrome panel 
COL2A1, COL9A1, COL9A2, COL11A1, COL11A2
Ophthalmology

Usher syndrome panel
CDH23, CIB2, CLRN1, DFNB31, GPR98, MYO7A, PCDH15, PDZD7, USH1C, USH1G, USH2A
Ophthalmology

Vitreoretinopathy and Wagner syndrome panel 
COL2A1, FZD4, LRP5, NDP, TSPAN12, VCAN
Ophthalmology

Congenital ichthyosis panel 
ALOX12B ABCA12 ALOXE3 CERS3 CYP4F22 LIPN NIPAL4 PNPLA1 TGM1
Immunology

Cornelia de Lange syndrome panel
HDAC8 NIPBL RAD21 SMC1A SMC3
Immunology

Ehlers-Danlos syndrome panel 
COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 FKBP14 PLOD1 TNXB
Immunology

Epidermolysis bullosa panel 
COL17A1 LAMA3 LAMB3 LAMC2
Immunology

Fanconi anemia panel 
BRCA2 BRIP1 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM PALB2 SLX4 XRCC2
Immunology

Hemophagocytic Lymphohistiocytosis panel 
PRF1 UNC13D STX11 STXBP2
Immunology

Osteogenesis imperfecta panel 
COL1A1 COL1A2 IFITM5
Immunology

Osteogenesis imperfecta panel autosomal recessive 
BMP1 CRTAP FKBP10 LEPRE1 PLOD2 PPIB SERPINH1 SP7
Immunology

Osteopetrosis panel
CA2 CLCN7 LRP5 OSTM1 PLEKHM1 SNX10 TCIRG1 TNFSF11 TNFRSF11A
Immunology

Periodic fever syndrome panel
ELANE LPIN2 MEFV MVK NLRP3 PSTPIP1 TNFRSF1A
Immunology

Waardenburg syndrome panel
EDN3 EDNRB MITF PAX3 SNAI2 SOX10 TYR
Immunology

Atypical hemolytic uremic syndrome panel
ADAMTS13 C3 CD46 CFB CFH CFHR1 CFHR2 CFHR3 CFHR4 CFHR5 CFI DGKE PIGA THBD
Endocrinology

Bardet Biedl panel 
ALMS1 ARL6 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 CCDC28B CEP290 LZTFL1 MKKS MKS1 SDCCAG8 TRIM32 TTC8 WDPCP
Endocrinology

Bartter Syndrome panel
ATP6V1B1 BSND CA2 CASR CLCNKA CLCNKB CLDN16 CLDN19 FXYD2 HSD11B2 KCNJ1 KCNJ10 KLHL3 NR3C2 SCNN1A SCNN1B SCNN1G SLC12A1 SLC12A2 SLC12A3 SLC12A5 SLC12A7 SLC4A1 SLC4A4 SLC4A5 WNK1
Endocrinology

Focal Glomerulonephrosis panel
ACTN4 CD2AP INF2 NPHS1 NPHS2 TRPC6 WT1
Nephrology

Kallmann syndrome panel
CHD7 FGFR1 FGF8 GNRHR GNRH1 KAL1 KISS1R PROK2 PROKR2 SEMA3A TAC3 TACR3

Maple syrup urine disease panel 
BCKDHA BCKDHB DBT DLD
Metabolic

Meckel syndrome panel
MKS1 TMEM216 TMEM67 CEP290 RPGRIP1L CC2D2A NPHP3 TCTN2 B9D1 B9D2 TMEM231
Endocrinology

Nephronophthisis panel
NPHP1 INVS NPHP3 NPHP4 ANKS6 IQCB1 CEP164 CEP290 GLIS2 RPGRIP1L NEK8 SDCCAG8 ZNF423
Nephrology

Nephrotic syndrome panel
ARHGDIA DGKE LAMB2 NPHS1 NPHS2 PLCE1 WT1
Nephrology

Pancreatitis panel 
PRSS1 SPINK1 CFTR CTRC
Nephrology

Polycystic kidney panel
BICC1 PKD1 PKD2 NOTCH2 PKHD1
Nephrology

Female infertility panel
CYP21A2 FSHR LHCGR BMP15 LHB ZP1 FMR1
Infertility

Male infertility panel
AR CATSPER1 CFTR FSHR LHCGR AZF
Infertility

Global infertility panel
AR CATSPER1 CFTR FSHB FSHR HESX1 LHB LHCGR NR5A1 POU1F1 SRY-AZF
Infertility

Acute myeloid leukemia panel
FLT3 ITD D835 NPM1 Ex11 CEBPA
Oncology

Breast ovarian cancer panel 
CDH1 PTEN STK11 TP53
Oncology

Breast ovarian cancer panel
PLUS ATM BARD1 BRIP1 CHEK2 MEN1 MLH1 MRE11A MSH2 MSH6 MUTYH NBN PALB2 PMS1 PMS2 RAD50 RAD51C RAD51D XRCC2
Oncology

Colon cancer non-polyposis panel 
MSH2 MLH1 MSH6 PMS2 EPCAM
Oncology

Colon cancer with polyps panel
APC BMPR1A MUTYH PTEN SMAD4 STK11
Oncology

Gastric cancer panel targeted
BMPR1A CDH1 EPCAM MLH1 MSH2 MSH6 PMS1 PMS2 SMAD4
Oncology

Megaloblastic anemia panel
AMN CUBN GIF
Oncology

Neurofibromatosis panel
NF1 NF2 SPRED1
Oncology

Ovarian cancer panel targeted 
BARD1 BRCA1 BRCA2 BRIP1 EPCAM MLH1 MRE11A MSH2 MSH6 NBN PMS1 PMS2 RAD50 RAD51C RAD51D STK11 TP53 Oncology

Pancreatic cancer panel targeted
APC ATM BMPR1A CDKN2A EPCAM MLH1 MSH2 MSH6 PALB2 PMS1 PMS2 PRSS1 SMAD4 STK11
Oncology

Paraganglioma (PGL), Pheochromocytoma (PCC), GastroIntestinal Stromal Tumor (GIST) panel targeted
GDNF KIF1B MAX MEN1 NF1 RET SDHA SDHAF2 SDHB SDHC SDHD TMEM127 TP53 VHL
Oncology

Pheochromocytoma panel
MAX PRKAR1A SDHA SDHAF2 SDHB SDHC SDHD TMEM127 VHL
Oncology

Renal cancer panel targeted 
EPCAM FH FLCN HNF1A HNF1B MET MITF MLH1 MSH2 MSH6 PMS1 PMS2 PTEN SDHB SDHD TSC1 TSC2 VHL WT1
Oncology

Skin cancer panel targeted
CDKN2A EPCAM MC1R MITF MLH1 MSH2 MSH6 PMS1 PMS2 POT1 PTCH1 XRCC3
Oncology

Spherocytosis panel 
ANK1 EPB42 SLC4A1 SPTA1 SPTB
Oncology

Thrombocytopenia panel
ADAMTS13 GATA1 GP1BA GP1BB GP9 ITGA2B ITGB3 MASTL MYH9 MPL RUNX1 WAS
Oncology

Thyroid cancer panel targeted
APC PTEN RET
Oncology

Uterine cancer panel targeted
EPCAM MLH1 MSH2 MSH6 PMS1 PMS2 PTEN
Oncology

Arthrogryposis panel
TPM2, MYBPC1, MYH3, TNNT3, TNNI2, MYH8, FBN2
Malformation/Retardation

Central hypoventilation syndrome panel
RET, GDNF, EDN3, BDNF, ASCL1, PHOX2A, PHOX2B, ZEB2, GFRA1, ECE1, MECP2
Malformation/Retardation

Coffin-Siris syndrome panel 
ARID1A, ARID1B, SMARCA4, SMARCB1, SMARCE1
Malformation/Retardation

Heterotaxy panel
ACVR2B, CFC1, CRELD1, GJA1, GDF1, FOXH1, LEFTY2, NKX2-5, NODAL, ZIC3
Malformation/Retardation

Hirschsprung disease panel 
ECE1, EDN3, EDNRB, GDNF, KIAA1279, NRG1, NRTN, RET, SOX10, ZEB2
Malformation/Retardation

Holoprosencephaly panel
CDON, FGF8, GLI2, GLI3, PTCH1, SHH, SIX3, TGIF1, ZIC2
Malformation/Retardation

Metaphyseal dysplasia panel
ANKH, CDKN1C, FLNA, MMP9, MMP13, NKX3-2, RMRP, RUNX2
Malformation/Retardation

Microcephaly panel
AKT3, AP4M1, ASPM, CASK, CDK5RAP2, CENPJ, CEP135, CEP152, CEP63, DNM1L, EFTUD2, IER3IP1, KIF11, MCPH1, MRE11A, MSMO1, NDE1, NHEJ1, NR2E1, PAFAH1B1, PCNT, PNKP, POMT1, SLC25A19, STI
Malformation/Retardation

Multiple epiphyseal dysplasia panel
COL2A1, COL9A1, COL9A2, COL9A3, COMP, MATN3, SLC26A2
Malformation/Retardation

Noonan - CFC syndrome panel 
BRAF, CBL, HRAS, MAP2K1, KRAS, MAP2K2, NF1, NRAS, RAF1, PTPN11, SHOC2, SOS1, SPRED1
Malformation/Retardation

Seckel syndrome panel 
ATR, RBBP8, CENPJ, CEP152, CEP63, ATRIP
Malformation/Retardation

Tuberous sclerosis panel 
TSC1, TSC2
Malformation/Retardation