We diagnose

4 400

INHERITED DISEASES

Medical license: LO-77-01-008810
The analysis follow the recommendations of ACMG, AMP and CAP
Data encryption: SSL

Base services

Clinical Exome sequencing is a technique for sequencing of vast majority of clinically relevant sections of the human genome and the mitochondrial DNA (known as the clinical exome), which are responsible for the development of more than 4,400 genetic diseases. Exome sequencing substitutes any other genetic analyzes, since it provides all relevant information about the mutations in human genes. Sequencing is carried out on high-throughput Illumina HiSeq 2500 NGS platform.

Starting material - DNA isolated from:
Saliva in Amby Lab container (2 ml), or Blood with EDTA (4 ml).
Deliverables: FastQ file
Download the Clinical Exome desciption
Download the list of genes in Clinical Exome
Analysis of data obtained by our Clinical Exome sequencing service. Bioinformatic analysis of NGS data identifies the variation in a single nucleotides (SNP), which may occur at specific position in the genome. This analysis also reveals long chromosomal mutations. Processing includes read mapping and variant calling.

Input: FastQ file
Deliverables: BAM and VCF files
We offer two alternative options:
  1. Interpretation made by our medical geneticist, please refer to the section Medical interpretation below.
  2. Interpretation of observed variants by the user. For this purpose we have designed special online tool, which allows to filter out clinically irrelevant mutations (not associated with inherited diseases) found during Clinical Exome sequencing. The algorithm processes found mutations and estimates theirs pathogenic relevance utilizing user-defined parameters chosen based on clinical records. The input data for this interpretation is the VCF file obtained by bioinformatic processing of sequencing data.
    Amby Lab online Medical System is available at: medsys.ambylab.com


Input: VCF file
Deliverables: Medical report

Medical interpretation

Gene Turnaround time

Input data: VCF file and medical records

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Input data: VCF file and medical records

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Input data: VCF file and medical records

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Input data: VCF file and medical records

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Input data: VCF file and medical records

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Input data: VCF file and medical records

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Input data: VCF file and medical records

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Input data: VCF file and medical records

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Input data: VCF file and medical records

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Input data: VCF file and medical records

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Input data: VCF file and medical records

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Input data: VCF file and medical records

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Input data: VCF file and medical records

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Input data: VCF file and medical records

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Input data: VCF file and medical records

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Input data: VCF file and medical records

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Input data: VCF file and medical records

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Input data: VCF file and medical records

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Input data: VCF file and medical records

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Input data: VCF file and medical records

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Input data: VCF file and medical records

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Input data: VCF file and medical records

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Input data: VCF file and medical records

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Input data: VCF file and medical records

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Input data: VCF file and medical records

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Input data: VCF file and medical records

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Input data: VCF file and medical records

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Input data: VCF file and medical records

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Input data: VCF file and medical records

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Input data: VCF file and medical records

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Input data: VCF file and medical records

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Input data: VCF file and medical records

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Input data: VCF file and medical records

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Input data: VCF file and medical records

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Input data: VCF file and medical records

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Input data: VCF file and medical records

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Input data: VCF file and medical records

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Input data: VCF file and medical records

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Input data: VCF file and medical records

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Input data: VCF file and medical records

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Input data: VCF file and medical records

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Input data: VCF file and medical records

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Input data: VCF file and medical records

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Input data: VCF file and medical records

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Input data: VCF file and medical records

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Input data: VCF file and medical records

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Input data: VCF file and medical records

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Input data: VCF file and medical records

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Input data: VCF file and medical records

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Input data: VCF file and medical records

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Panel Turnaround time

Input data: VCF file and medical records

Genes:
FLT3, NPM1, CEBPA


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Input data: VCF file and medical records

Genes:
ADAR, IFIH1, TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1


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Input data: VCF file and medical records

Genes:
GPR143, LYST, MC1R, MITF, MYO5A, OCA2, RAB27A, SLC45A2, TYR, TYRP1


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Input data: VCF file and medical records

Genes:
COL4A3, COL4A4, COL4A5


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Input data: VCF file and medical records

Genes:
APOE, APP, PRNP, PSEN1, PSEN2, SORL1, TREM2


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Input data: VCF file and medical records

Genes:
ALS2, ANG, ATXN2, C9orf72, CHMP2B, CHGB, DCTN1, FIG4, FUS, NEFH, OPTN, PFN1, PRPH2, SETX, SIGMAR1, SOD1, SPG20, TARDBP, UBQLN2, VAPB, VCP, VEGFA, VPS54


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Input data: VCF file and medical records

Genes:
MYH11, ACTA2, TGFBR1, TGFBR2, FBN1, COL3A1, SMAD3, CBS, FBN2, SLC2A10, MYLK, TGFB2


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Input data: VCF file and medical records

Genes:
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


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Input data: VCF file and medical records

Genes:
DSP, DSG2, DSC2, JUP, PKP2, RYR2, TMEM43


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Input data: VCF file and medical records

Genes:
TPM2, MYBPC1, MYH3, TNNT3, TNNI2, MYH8, FBN2


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Input data: VCF file and medical records

Genes:
SLC35A3, ERCC1, ERCC2, ERCC5, ERCC6, ORC1, ORC4, ORC6, CDT1, CDC6, PIEZO2, MYCN, KIAA0442


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Input data: VCF file and medical records

Genes:
GBA, CFTR, HEXA, IKBKAP, ASPA, G6PC, ABCC8, MCOLN1, BCKDHB, FANCC, DLD, SMPD1, CLRN1, PCDH15, BLM, NEB, BRCA1, BRCA2


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Input data: VCF file and medical records

Genes:
ADAMTS13, C3, CD46, CFB, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, DGKE, PIGA, THBD


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Input data: VCF file and medical records

Genes:
EN2, MECP2, NLGN3, NLGN4X, PDE8B, RPL10


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Input data: VCF file and medical records

Genes:
ALMS1, ARL6, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, CCDC28B, CEP290, LZTFL1, MKKS, MKS1, SDCCAG8, TRIM32, TTC8, WDPCP


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Input data: VCF file and medical records

Genes:
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, WNK4


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Input data: VCF file and medical records

Genes:
COL6A1, COL6A2, COL6A3, COL12A1


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Input data: VCF file and medical records

Genes:
ATM, BARD1, BRIP1, CDH1, CHEK2, MEN1, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, PALB2, PTEN, PMS1, PMS2, RAD50, RAD51, RAD51C, RAD51D, XRCC2, STK11, TP53 BRCA1 BRCA2


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Input data: VCF file and medical records

Genes:
CACNA1C, CACNB2, GPD1L, HCN4, KCNE3, SCN1B, SCN3B, SCN5A, SLMAP


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Input data: VCF file and medical records

Genes:
ALK, APC, ATM, BAP1, BLM, BMPR1A, BRIP1, CDC73, CDH1, CDK4, CDKN2A, CEBPA, CHEK2, CYLD, DDB2, DICER1, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, EXT1, EXT2, EZH2, FANCA, FANCC, FANCD2, FANCF, FANCG, FH, FLCN, GATA2, GDNF, HNF1A, HRAS, KIT, MEN1, MET, MITF, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, NF2, NSD1, PALB2, PAX5, PDGFRA, PHOX2B, PMS1, PMS2, POT1, PRKAR1A, PTCH1, PTEN, RB1, RECQL4, RET, RUNX1, SBDS, SDHA, SDHB, SDHC, SDHD, SMAD4, SMARCB1, STK11, SUFU, TP53, TSC1, TSC2, VHL, WRN, WT1, XPA, XPC


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Input data: VCF file and medical records

Genes:
AGK, CRYAA, CRYAB, CRYBB1, CRYBB3, CTDP1, FYCO1, GCNT2, GJA8, HSF4, LIM2, SIL1, TDRD7


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Input data: VCF file and medical records

Genes:
ADCK3, APTX, COQ2, COQ9, DNMT1, FXN, PDSS1, PDSS2, POLG, SACS, SETX, SYNE1, TTPA, VLDLR


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Input data: VCF file and medical records

Genes:
AARS, ARHGEF10, DNM2, GAN, GARS, GDAP1, DYNC1H1, HSPB8, HSPB1, KIF1B, LMNA, MED25, MFN2, MPZ, NEFL, RAB7A, SLC12A6, TRPV4, YARS


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Input data: VCF file and medical records

Genes:
CTDP1, EGR2, FGD4, FIG4, GDAP1, GJB1, LITAF, MTMR2, MPZ, NDRG1, NEFL, PMP22, PRPS1, PRX, SBF2, SH3TC2


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Input data: VCF file and medical records

Genes:
CACNA1H, GABRA1, GABRB3, GABRG2, JRK, SLC2A1


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Input data: VCF file and medical records

Genes:
ARID1A, ARID1B, SMARCA4, SMARCB1, SMARCE1


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Input data: VCF file and medical records

Genes:
MSH2, MLH1, MSH6, PMS2, EPCAM


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Input data: VCF file and medical records

Genes:
APC, BMPR1A, MUTYH, PTEN, SMAD4, STK11


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Input data: VCF file and medical records

Genes:
ABCA4, ADAM9, AIPL1, BEST1, C8ORF37, CABP4, CACNA1F, CACNA2D4, CDHR1, CERKL, CNGB3, CNNM4, CRX, GUCA1A, GUCY2D, KCNV2, PDE6C, PDE6H, PITPNM3, PROM1, PRPH2, RAX2, RDH5, RGS9, RGS9BP, RIMS1, RPGR, RPGRIP1, SEMA4A, UNC119


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Input data: VCF file and medical records

Genes:
RET, GDNF, EDN3, BDNF, ASCL1, PHOX2A, PHOX2B, ZEB2, GFRA1, ECE1, MECP2


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Input data: VCF file and medical records

Genes:
ALOX12B, ABCA12, ALOXE3, CERS3, CYP4F22, LIPN, NIPAL4, PNPLA1, TGM1


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Input data: VCF file and medical records

Genes:
AGRN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COLQ, DOK7, GFPT1, LAMB2, MUSK, PLEC, RAPSN, SCN4A


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Input data: VCF file and medical records

Genes:
ACTA1, BIN1, CCDC78, CFL2, CNTN1, DNM2, FHL1, KBTBD13, MAMLD1, MTM1, MTMR14, MYF6, MYH7, NEB, RYR1, SEPN1, TNNT1, TPM2, TPM3


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Input data: VCF file and medical records

Genes:
HDAC8, NIPBL, RAD21, SMC1A, SMC3


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Input data: VCF file and medical records

Genes:
MPZ, PMP22, PRX, EGR2, GJB1


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Input data: VCF file and medical records

Genes:
APOE, APP, C9orf72, CHMP2B, CSF1R, FUS, GRN, MAPT, PRNP, PSEN1, PSEN2, SORL1, TARDBP, TREM2, UBE3A, VCP


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Input data: VCF file and medical records

Genes:
RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS7


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Input data: VCF file and medical records

Genes:
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, MT-TQ, MT-TS1, MT-TS2, PSEN2, RBM20, SCN5A, SDHA, SGCD, TAZ, TCAP, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL


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Input data: VCF file and medical records

Genes:
ATP2A2, DPP6, SCN10A, TRPM4, ANK2, CASQ2, GJA1, GJA5, KCNJ8, NPPA, HCN4, GJC1, TRDN, KCNE1L, RANGRF, KCND3, ACTC1, ACTN2, BMPR2, CACNA1D, CACNA2D1, CTF1, DSC2, DSG2, DSP, DTNA, FHL2, GLA, JUP, LAMA4, LAMP2, MYBPC3, MYL2, MYL3, PKP2, PLN, PSEN1, PSEN2, RYR2, SRL, SLC8A1, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTR, VCL, CSRP3, NOS1AP, ABCC9, LDB3, MYH6, ANKRD1, PRKAG2, MYOZ2, JPH2, TMEM43, MYPN, MYLK2, NEXN, CALR3, RBM20, TGFB3, FXN, MYH7, EYA4, EMD, SGCD, TTN, TCAP, DES, LMNA, TAZ, KCNA5, ACTA1, ACVR1, BIN1, CFL2, CNTN1, CRYAB, FHL1, FLNC, MSTN, MTM1, MYF6, NEB, TNNT1, TPM3, BAG3, MATR3, MAMLD1, ISCU, KLHL9, SEPN1, MEGF10, CCDC78, KBTBD13, MYH2, DNM2, MYBPC1, TPM2, PABPN1, DYSF, MYOT, GNE, ANO5, PLEC, VCP, DMD, TBX20, FKTN, GATAD1, MT-ND1, MT-ND5, MT-ND6, SCN5A, SDHA, CAV3, SLC25A4,


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Input data: VCF file and medical records

Genes:
GCH1, TH, SPR


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Input data: VCF file and medical records

Genes:
SCN1A, GABRG2, SCN2A, SCN9A


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Input data: VCF file and medical records

Genes:
TOR1A, THAP1, GCH1, TH, SPR, SLC2A1, CIZ1, PRRT2, PNKD


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Input data: VCF file and medical records

Genes:
ARX, CDKL5, SLC25A22, STXBP1, SPTAN1, SCN1A, KCNQ2, KCNT1, ARHGEF9, PCDH19, PNKP, SCN2A, SCN8A, PLCB1


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Input data: VCF file and medical records

Genes:
COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, FKBP14, PLOD1, TNXB


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Input data: VCF file and medical records

Genes:
COL17A1, LAMA3, LAMB3, LAMC2


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Input data: VCF file and medical records

Genes:
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, SRGAP2, STXBP1, TBCE, TCF4, TREX1, UBE3A, ZEB2


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Input data: VCF file and medical records

Genes:
CACNA1A, CACNB4, KCNA1, SLC1A3


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Input data: VCF file and medical records

Genes:
ATP1A2, CACNA1A, SCN1A


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Input data: VCF file and medical records

Genes:
APOB, GHR, LDLR, PCSK9


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Input data: VCF file and medical records

Genes:
BRCA2, BRIP1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, PALB2, SLX4, XRCC2


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Input data: VCF file and medical records

Genes:
NPHP1, INVS, NPHP3, NPHP4, ANKS6, IQCB1, CEP164, CEP290, GLIS2, RPGRIP1L, NEK8, SDCCAG8, ZNF423


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Input data: VCF file and medical records

Genes:
CHM, EFEMP1, PLA2G5, RDH5, RLBP1, RS1, VPS13B


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Input data: VCF file and medical records

Genes:
ACTN4, TRPC6, WT1, NPHS1, NPHS2, CD2AP


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Input data: VCF file and medical records

Genes:
CHMP2B, GRN, VCP, FUS, TARDBP, C9orf72, MAPT, SIGMAR1, UBQLN2


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Input data: VCF file and medical records

Genes:
GDNF, KIF1B, MAX, MEN1, NF1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, TP53, VHL


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Input data: VCF file and medical records

Genes:
GABRD, GABRG2, SCN1A, SCN1B, SCN2A, SCN9A


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Input data: VCF file and medical records

Genes:
GYS1, GYS2, G6PC, SLC37A4, GAA, AGL, GBE1, PYGM, PYGL, PFKM, PHKA2, PGAM2, LDHA, ALDOA, ENO3, PHKB, PHKA1, PGM1, GYG1, PRKAG2, PHKG2


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Input data: VCF file and medical records

Genes:
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, SLC35C1


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Input data: VCF file and medical records

Genes:
PRF1, UNC13D, STX11, STXBP2


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Input data: VCF file and medical records

Genes:
PRSS1, SPINK1, CFTR, CTRC


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Input data: VCF file and medical records

Genes:
HPS1, AP3B1, HPS3, HPS4, HPS5, HPS6, DTNBP1, BLOC1S3


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Input data: VCF file and medical records

Genes:
ACVR2B, CFC1, CRELD1, GJA1, GDF1, FOXH1, LEFTY2, NKX2-5, NODAL, ZIC3


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Input data: VCF file and medical records

Genes:
ECE1, EDN3, EDNRB, GDNF, KIAA1279, NRG1, NRTN, RET, SOX10, ZEB2


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Input data: VCF file and medical records

Genes:
CDON, FGF8, GLI2, GLI3, PTCH1, SHH, SIX3, TGIF1, ZIC2


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Input data: VCF file and medical records

Genes:
ARHGEF9, GLRA1, GLRB, GPHN, SLC6A5


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Input data: VCF file and medical records

Genes:
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


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Input data: VCF file and medical records

Genes:
LHB, FSHB, LHCGR, FSHR


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Input data: VCF file and medical records

Genes:
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


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Input data: VCF file and medical records

Genes:
CHD7, FGFR1, FGF8, GNRHR, GNRH1, KAL1, KISS1R, PROK2, PROKR2, SEMA3A, TAC3, TACR3


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Input data: VCF file and medical records

Genes:
EPCAM, FH, FLCN, HNF1A, HNF1B, MET, MITF, MLH1, MSH2, MSH6, PMS1, PMS2, PTEN, SDHB, SDHD, TSC1, TSC2, VHL, WT1


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Input data: VCF file and medical records

Genes:
AIPL1, CABP4, CEP290, CRB1, CRX, GUCY2D, IMPDH1, IQCB1, KCNJ13, LCA5, LRAT, NMNAT1, OTX2, RD3, RDH12, RPE65, RPGRIP1, SPATA7, TULP1


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Input data: VCF file and medical records

Genes:
MT-ATP6, MT-CO1, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND4, MT-ND4L, MT-ND5, MT-ND6


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Input data: VCF file and medical records

Genes:
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


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Input data: VCF file and medical records

Genes:
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


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Input data: VCF file and medical records

Genes:
ANO5, CAPN3, CAV3, DAG1, DNAJB6, DYSF, FKRP, FKTN, LMNA, MYOT, PLEC, POMGNT1, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, TCAP, TRIM32, TTN


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Input data: VCF file and medical records

Genes:
ARX, DCX, NDE1, PAFAH1B1, POMT1, POMT2, RELN, TUBA1A, YWHAE


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Input data: VCF file and medical records

Genes:
AKAP9, ANK2, CACNA1C, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, SCN4B, SCN5A, SNTA1


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Input data: VCF file and medical records

Genes:
ARSA, FUCA1, GALC, GBA, GLB1, GNPTAB, GUSB, HEXA, HEXB, MAN2B1, MANBA, NAGA, SMPD1


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Input data: VCF file and medical records

Genes:
CACNA1S, RYR1


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Input data: VCF file and medical records

Genes:
BCKDHA, BCKDHB, DBT, DLD


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Input data: VCF file and medical records

Genes:
ACTA2, COL3A1, COL5A1, COL5A2, FBN1, FBN2, MYH11, SLC2A10, SMAD3, TGFBR1, TGFBR2


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Input data: VCF file and medical records

Genes:
ABCC8, BLK, CEL, GCK, HNF1A, HNF1B, HNF4A, INS, KLF11, NEUROD1, NKX2-2, PAX4, PDX1, RFX6, ZFP57


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Input data: VCF file and medical records

Genes:
MKS1, TMEM216, TMEM67, CEP290, RPGRIP1L, CC2D2A, NPHP3, TCTN2, B9D1, B9D2, TMEM231


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Input data: VCF file and medical records

Genes:
AMN, CUBN, GIF


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Input data: VCF file and medical records

Genes:
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


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Input data: VCF file and medical records

Genes:
ANKH, CDKN1C, FLNA, MMP9, MMP13, NKX3-2, RMRP, RUNX2


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Input data: VCF file and medical records

Genes:
ABCD4, ACSF3, CD320, LMBRD1, MCEE, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MTR, MTRR, MUT, SUCLA2, SUCLG1


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Input data: VCF file and medical records

Genes:
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


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Input data: VCF file and medical records

Genes:
ALDH1A3, BCOR, BMP4, HCCS, MITF, OTX2, RAX, SIX6, SOX2, STRA6, TENM1, TENM3, VSX2


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Input data: VCF file and medical records

Genes:
C10ORF2, DGUOK, MPV17, MT-ND1, MT-ND5, MT-ND6, MT-TH, MT-TF, MT-TL1, MT-TK, MT-TP, MT-TQ, MT-TS1, MT-TS2, PC, POLG, PUS1, RRM2B, SUCLA2, SUCLG1, TK2, TYMP


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Input data: VCF file and medical records

Genes:
IDUA, IDS, SGSH, NAGLU, HGSNAT, GNS, GALNS, ARSB, GUSB, HYAL1, LDB3, MYOT


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Input data: VCF file and medical records

Genes:
COL2A1, COL9A1, COL9A2, COL9A3, COMP, MATN3, SLC26A2


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Input data: VCF file and medical records

Genes:
BAG3, CRYAB, DES, DNAJB6, FHL1, FLNC, LDB3, MYOT


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Input data: VCF file and medical records

Genes:
NEB, ACTA1, CFL2, MTM1, TNNT1, TPM2, TPM3


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Input data: VCF file and medical records

Genes:
ABCC8, FOXP3, G6PC2, GCK GLIS3, INS, INSR, KCNJ11, NEUROG3, PDX1


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Input data: VCF file and medical records

Genes:
ARHGDIA, DGKE, LAMB2, NPHS1, NPHS2, PLCE1, WT1


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Input data: VCF file and medical records

Genes:
NF1, NF2, SPRED1


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Input data: VCF file and medical records

Genes:
CLN3, CLN5, CLN6, CLN8, CTSD, DNAJC5, MFSD8, PPT1, TPP1


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Input data: VCF file and medical records

Genes:
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


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Input data: VCF file and medical records

Genes:
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


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Input data: VCF file and medical records

Genes:
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


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Input data: VCF file and medical records

Genes:
BRAF, CBL, HRAS, MAP2K1, KRAS, MAP2K2, NF1, NRAS, RAF1, PTPN11, SHOC2, SOS1, SPRED1


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Input data: VCF file and medical records

Genes:
APTX, PIK3R5, SETX


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Input data: VCF file and medical records

Genes:
AUH, C12ORF65, CISD2, NDUFS1, OPA1, OPA3, POLG, SPG7, TIMM8A, TMEM126A, WFS1


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Input data: VCF file and medical records

Genes:
COL1A1, COL1A2, IFITM5


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Input data: VCF file and medical records

Genes:
BMP1, CRTAP, FKBP10, LEPRE1, PLOD2, PPIB, SERPINH1, SP7


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Input data: VCF file and medical records

Genes:
CA2, CLCN7, LRP5, OSTM1, PLEKHM1, SNX10, TCIRG1, TNFSF11, TNFRSF11A


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Input data: VCF file and medical records

Genes:
BARD1, BRCA1, BRCA2, BRIP1, EPCAM, MLH1, MRE11A, MSH2, MSH6, NBN, PMS1, PMS2, RAD50, RAD51C, RAD51D, STK11, TP53


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Input data: VCF file and medical records

Genes:
KRAS CDKN2A MADH4(SMAD4) TP53(p53) ARMET STK11 ACVR1B RBBP8 PALLD BRCA2 PALB2 PNCA4 BRCA1 HNPCC VHL CCND1 BMPR1A PRSS1


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Input data: VCF file and medical records

Genes:
APC, ATM, BMPR1A, CDKN2A, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS1, PMS2, PRSS1, SMAD4, STK11


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Input data: VCF file and medical records

Genes:
ATP13A2, C19orf12, CP, DCAF17, FA2H, FTL, PANK2, PLA2G6, WDR45


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Input data: VCF file and medical records

Genes:
SNCA, LRRK2, VPS35, PARK2, PINK1, PARK7, ATP13A2, PLA2G6, FBXO7, DNAJC6


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Input data: VCF file and medical records

Genes:
CACNA1H, CACNB4, CHRNA2, CHRNA4, CHRNB2, CLCN2, CPA6, DEPDC5, EFHC1, GABRA1, GABRB3, GABRD, GABRG2, JRK, KCNMA1, KCNQ2, KCNQ3, LGI1, MTATP6, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SLC2A1, SRPX2


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Input data: VCF file and medical records

Genes:
ELANE, LPIN2, MEFV, MVK, NLRP3, PSTPIP1, TNFRSF1A


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Input data: VCF file and medical records

Genes:
MAX, PRKAR1A, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL


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Input data: VCF file and medical records

Genes:
BICC1, PKD1, PKD2, NOTCH2, PKHD1


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Input data: VCF file and medical records

Genes:
CASK, TSEN2, TSEN34, TSEN54, OPHN1, RARS2, VRK1, EXOSC3, CHMP1A


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Input data: VCF file and medical records

Genes:
DNAI1, DNAAF2, DNAAF3, DNAH5, HYDIN, NME8, DNAH11, DNAI2, RSPH4A, RSPH9, DNAAF1, CCDC39, CCDC40, DNAL1, CCDC103, HEATR2, LRRC6, CCDC114


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Input data: VCF file and medical records

Genes:
C10ORF2, DNA2, OPA1, POLG, POLG2, RRM2B, SLC25A4, TYMP


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Input data: VCF file and medical records

Genes:
PEX1, PEX2, PEX26, PEX7, PHYH


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Input data: VCF file and medical records

Genes:
ABCA4, BEST1, CA4, CRX, CLRN1, FSCN2, GUCA1B, IMPDH1, KLHL7, NR2E3, NRL, PRPF3, PRPF31, PRPF6, PRPF8, PRPH2, RDH12, RGR, RHO, ROM1, RP1, RP2, RP9, RPE65, RPGR, SEMA4A, SNRNP200, TOPORS


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Input data: VCF file and medical records

Genes:
ABCA4, ARL6, BBS1, BEST1, C2ORF71, C8ORF37, CERKL, CNGA1, CNGB1, CRB1, DHDDS, EYS, FAM161A, FLVCR1, GNPTG, IDH3B, IMPG2, LRAT, MAK, MERTK, NR2E3, NRL, PDE6A, PDE6B, PDE6G, PRCD, PROM1, RBP3, RDH12, RGR, RHO, RLBP1, RP1, RP2, RPE65, RPGR, SAG, SEMA4A, SPATA7, TTC8, TULP1, USH2A, ZNF513


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Input data: VCF file and medical records

Genes:
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


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Input data: VCF file and medical records

Genes:
ATR, RBBP8, CENPJ, CEP152, CEP63, ATRIP


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Input data: VCF file and medical records

Genes:
CDKN2A, EPCAM, MC1R, MITF, MLH1, MSH2, MSH6, PMS1, PMS2, POT1, PTCH1, XRCC3


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Input data: VCF file and medical records

Genes:
ATL1, BSCL2, HSPD1, KIAA0196, KIF5A, NIPA1, REEP1, RTN2, SLC33A1, SPAST, ZFYVE27


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Input data: VCF file and medical records

Genes:
AP4M1, CYP2U1, CYP7B1, DDHD1, FA2H, GJC2, KIF1A, PNPLA6, SPG11, SPG20, SPG21, SPG7, ZFYVE26


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Input data: VCF file and medical records

Genes:
ANK1, EPB42, SLC4A1, SPTA1, SPTB


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Input data: VCF file and medical records

Genes:
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


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Input data: VCF file and medical records

Genes:
ABCA4, BEST1, C1QTNF5, CDH3, CNGB3, ELOVL4, FSCN2, PROM1, PRPH2, RDH12, RP1L1, RPGR, TIMP3


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Input data: VCF file and medical records

Genes:
COL2A1, COL9A1, COL9A2, COL11A1, COL11A2


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Input data: VCF file and medical records

Genes:
BMPR1A, CDH1, EPCAM, MLH1, MSH2, MSH6, PMS1, PMS2, SMAD4


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Input data: VCF file and medical records

Genes:
ABCA3, CSF2RA, CSF2RB, SFTPA1, SFTPB, SFTPC, SFTPD


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Input data: VCF file and medical records

Genes:
ADAMTS13, GATA1, GP1BA, GP1BB, GP9, ITGA2B, ITGB3, MASTL, MYH9, MPL, RUNX1, WAS


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Input data: VCF file and medical records

Genes:
APC, PTEN, RET


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Input data: VCF file and medical records

Genes:
TSC1, TSC2


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Input data: VCF file and medical records

Genes:
COL6A1, COL6A2, COL6A3


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Input data: VCF file and medical records

Genes:
ARG1, ASL, ASS1, CPS1, NAGS, OTC


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Input data: VCF file and medical records

Genes:
CDH23, CIB2, CLRN1, DFNB31, GPR98, MYO7A, PCDH15, PDZD7, USH1C, USH1G, USH2A


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Input data: VCF file and medical records

Genes:
EPCAM, MLH1, MSH2, MSH6, PMS1, PMS2, PTEN


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Input data: VCF file and medical records

Genes:
COL2A1, FZD4, LRP5, NDP, TSPAN12, VCAN


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Input data: VCF file and medical records

Genes:
EDN3, EDNRB, MITF, PAX3, SNAI2, SOX10, TYR


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Input data: VCF file and medical records

Genes:
FKRP, FKTN, ISPD, LARGE, POMT1, POMT2


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Input data: VCF file and medical records

Genes:
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


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Input data: VCF file and medical records

Genes:
PEX1, PEX2, PEX3, PEX5, PEX6, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX26


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Screening for deletions, insertions, duplication and loss of heterozygosity (LOH) sites by next generation sequencing technology. The resolution of the method starts from 1 bp. For instance, the Chromosomal microarray (CMA) testing does not allow to detect deletions or insertions less than 50 000 bp.

Input data: VCF file and medical records
Service

Exome analysis is a screening method reveals all kinds of mutations in all clinically relevant sections of the human genome and the mitochondrial DNA, which are responsible for the development of more than 4,400 genetic diseases. Exome analysis substitutes any other genetic analyzes, since it provides all relevant information about the mutations in human genes.
Exome analysis includes high-throughput chromosomal analysis (CMA) and replaces less accurate classical CMA.


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If you have already passed one of the genetic tests (Individual gene or Disease panel analyzes), but it has not allowed to find out the genetic cause of the disease, we offer extra exome analysis for just $99.

Exome analysis is a screening method reveals all kinds of mutations in all clinically relevant sections of the human genome and the mitochondrial DNA, which are responsible for the development of more than 4,400 genetic diseases. Exome analysis substitutes any other genetic analyzes, since it provides all relevant information about the mutations in human genes.

Exome analysis includes high-throughput chromosomal analysis (CMA) and replaces less accurate classical CMA.

Input data: VCF file and medical records


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How it Works?

1

Order your test online

2

We will ship you DNA
collecting kit

3

Collect saliva sample
and send your kit
back to us

4

Track your order
status online

5

Get reports
in your online
account

Interpretation

Our certified medical geneticists review your results and help to make the right diagnosis and to select effective therapy

Elena
Okuneva

Medical geneticist

Anastasia
Kozina

Medical geneticist
Our technology and standards
#

We use Illumina HiSeq 2500 next generation sequencing platform to explore individuals’ DNA.

We offer DNA analysis service at affordable price with short turnaround time.

We always use only original kits and protocols and our sequencing platforms are maintained and updated promptly, that guarantees the highest quality of the data.

#

Our bioinformatics team in close collaboration with medical geneticists has established the unique medical interpretation system, which is consistent with the recommendations of ACMG, AMP and CAP.

Amby Lab carries out a full cycle of rare genetic diseases diagnostics in accordance with highest international medical standards. Laboratory is certified by Russian Ministry Of Health. Registration Number: LO-77-01-008810, issued 19th Aug 2014.

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