Lead Clinical Experts

Dr. Ali M Tabsih

Consultant clinical geneticist, MRes MBBS MD PhD

Email: amt@e-clinicome.com

Dr. Syed Ali Raza

Consultant Medical Oncologist, MBBS FRCP Glasgow FCPS Medical Oncology.

Email: aliraza@e-clinicome.com

Antenatal Genetics Clinic at E-CLINICOME

Dysmorphology clinic at

E-CLINICOME

A comprehensive evaluation of dysmorphic features

Malformations and dysmorphic features (examples)

Ear malformation

High forehead

Scaphocephaly
(long, narrow head)

Hexadactyly

Eyes that slant downwards

Eyes that slant upwards
Epicanthus (fold of skin
over inner angle of the eye)

Thin upper lip
Drooping corners of
the mouth

Pterygium colli (webbed neck)

Café-au-lait spot
Neurofibroma

White spots

Clinodactyly

Syndactyly

Key Features

Cancer & Rare Disease Diagnostics
SNP, InDels, Copy Number Variation (CNV) Identiﬁcation
Tumor Mutation Burden (TMB), Microsatellite Instability (MSI)
CSM Reporting according to ACMG & AMP Guidelines
and Phenotypic information
Analysis using updated databases & automated pipeline
Annotated VCF with MAF, Gene Name, Location etc.
Clinically signiﬁcant variants with associated diseases

Clinically Relevant
Mutations

Abbreviated
Report Time

Strong Customer
Data Security

WHOLE EXOME
SEQUENCING

Whole Exome Sequencing (WES) Panel is a comprehensive solution that covers all target regions of major WES panels available in the market. With a target size of 37.1 Mb, the panel does not compromise performance in terms of coverage and uniformity, enabling highly efficient and cost-effective sequencing of the human whole exome. The panel coverage spans across exon regions from RefSeq, CCDS, and GENCODE.

KEY FEATURES

Complete Whole Exome Coverage
+/- Exome Regions Covered For Canonical Sites
FASTQ to Clinical Interpretation
Rapid Workflow
Easy Reporting Access
Data Storage and Retrieval
Flexible Integration Reports on Demand

Panel Performance

WES panel with exceptional performance, coverage at 100x

CLINICAL EXOME SEQUENCING

(CES) EXPANDED PANEL

The Clinical Exome Sequencing (CES) Expanded Panel has overcome the limitations of analyzing clinical diseases with whole exome sequencing. By selectively targeting the clinically significant genes, the panel enables comprehensive analysis with the most effective sequencing throughput.

Key Features

Comprehensive genomic profiling of a variety of genetic diseases
Includes a wide range of target regions
Cost-effective analysis : Able to provide accurate analysis with reduced sequencing

Speciﬁcation

Gene count- 7,513 genes
Covered region- CDS, hotspots, Mitochondrial genome
Target size- 19.6 Mb
Mutation type- SNV, Indel, CNV
Sample type- Blood (> 50 ng of fragmented DNA)
Platform- All sequencers from Illumina, Thermo Fisher, MGI
Bioinformatics pipeline- Primary, Secondary and Tertiary analysis result
(FASTQ to VCF, VCF to Clinical report)

List of Diseases category assessed by
Clinical Exome Sequencing (CES) Expanded Panel

Cardiology

Metabolism

Dermatology

Nephrology

Endocrinology

Neurology

ENT

Oncology

GI/Hepatology

Ophthalmology

Hematology

Pulmonology

Immunology

Skeletal disorders

LIQUID BIOPSY PANELS

The detection sensitivity for low-frequency variants from a limited amount of sample is of great importance to ctDNA analysis kits. The panels are thoroughly validated and ready to use for clinical diagnosis.

KEY FEATURES

Detects ctDNA for colorectal cancer, breast cancer, and lung cancer

Highly optimized panel for clinical testing with exceptional accuracy

Receive high-quality data and analysis software, enabling efficient duplication removal and minimizing sequencing noise

ctDNA Lung Panel

Gene count- 28 genes
Covered region- Whole CDS
Target size- 47 kb
Mutation type- SNV, Indel
Sample type (amount) - Plasma (> 20 ng of cfDNA)

Gene List / ctDNA Lung Panel

AKT1

ALK

ARAF

ARID1A

BRAF

CBL

CDKN2A

EGFR

ERBB2

HRAS

KEAP1

KRAS

MAP2K1

MET

MTOR

NF1

NRAS

NTRK1

NTRK2

PIK3CA

PTEN

RB1

RIT1

ROS1

SETD2

STK11

TP53

U2AF1

ctDNA Colorectal Panel

Gene count- 16 genes
Covered region- Whole CDS
Target size- 18 kb
Mutation type- SNV, Inde
Sample type (amount) - Plasma (> 20 ng of cfDNA)

Gene List / ctDNA Colorectal Panel

APC

BRAF

EGFR

ERBB2

ERBB3

FGFR1

HRAS

IRS1

KRAS

MET

NRAS

PDGFRB

PIK3CA

PTEN

TP53

ctDNA Breast Panel

Gene count- 27 genes
Covered region- Whole CDS
Target size- 99 kb
Mutation type- SNV, Indel
Sample type (amount) - Plasma (> 20 ng of cfDNA)

Gene List / ctDNA Breast Panel

AKT1

APC

BRCA1

BRCA2

CCND1

CDH1

EGFR

ERBB2

ESR1

FGFR1

FGFR2

GATA3

IGF1R

KIT

KRAS

MAP2K4

MAP3K1

MDM2

MYC

NF1

PIK3CA

PIK3R1

PTEN

RB1

TOP2A

TP53

ONCOLOGY PANELS

The Oncology Panel are NGS assays designed to detect all types of variants in genes associated with different cancer types.

BRCA 1/2 Panel Germline & Somatic Cancer

Targets the whole CDS (+/- 40) and promoter regions of BRCA 1/2 with high specificity
Compatible with a variety of sample types
Designed to target whole exon regions of BRCA 1, 2 gene with 100% coverage (RefSeq) and validated to yield 100% coverage

Oncogenes	BRCA 1/2 genes
Target size	23 kb
Mutation type	SNV, Indel, CNV
Sample type(amount)	Blood > 50 ng of fragmented DNA, FFPE

Common Hereditary Cancer NGS Panel

Common Hereditary Cancer NGS Panel is an NGS assay designed to detect all types of variants in 61 genes associated with Common Hereditary Cancers.

Gene List / Myeloid Leukemia NGS Panel

ANKRD26

ASXL1

ATRX

BCOR

BCORL1

BRAF

CALR

CBL

CBLB

CEBPA

CSF3R

DDX41

DNMT3A

ETV6

EZH2

FLT3

GATA1

GATA2

HRAS

IDH1

IDH2

JAK2

JAK3

KDM6A

KIT

KRAS

MPL

NOTCH1

NPM1

NRAS

PDGFRA

PHF6

PPM1D

PTPN11

RAD21

RUNX1

SETBP1

SF3B1

SMC1A

SMC3

SRSF2

STAG1

STAG2

STAT3

TET2

TP53

U2AF1

WT1

ZRSR2

Commercial Name	Cat No.
CancerCheck 50 Panel	G2MCC03001-ill; G2MCC03001-TF; G2MCC03001-MG
CancerCheck 100 Panel	G2MCC04001-ill; G2MCC04001-TF; G2MCC04001-MG

Lymphoid Leukemia NGS Panel

Lymphoid Leukemia NGS Panel is an NGS assay designed to detect all types of variants in 75 genes associated with Lymphoid Leukemia.

GENE LIST / Lymphoid Leukemia NGS Pane

AARS

ABCA13

ABCB11

ABL1

BRAF

BTG1

CDKN2A

COG1

COL4A4

CREBBP

CRLF2

DNM2

DNMT1

DNMT3A

EP300

ETV6

EVC

EZH2

FBXW7

FERMT1

FLT3

FREM2

GATA3

GRM1

HPSE2

IDH1

IDH2

IKZF1

IL12RB2

IL7R

JAK1

JAK2

JAK3

KDM6A

KMT2A

KMT2D

KRAS

L2HGDH

LAMA3

LEF1

LMO1

MAPK1

NDUFV3

NF1

NOTCH1

NPHS2

NRAS

NSD2

NT5C2

NUDT15

PAX5

PDP1

PHF6

PTEN

PTPN11

RB1

RUNX1

SERPIND1

SETD2

SH2B3

SLC12A6

SOX6

SRY

STAG2

STAT3

STAT5B

SUMF1

TBL1XR1

TCF3

TDRD7

TP53

TPMT

Lymphoma NGS Panel

Lymphoma NGS Panel is an NGS assay designed to detect all types of variants in 75 genes associated with Lymphoma.

GENE LIST / Lymphoid Leukemia NGS Pane

AARS

ABCA13

ABCB11

ALK

ATM

B2M

BCL6

BIRC3

BRAF

BTK

CARD11

CD79A

CD79B

COG1

COL4A4

CREBBP

CXCR4

DNMT1

EGR2

EP300

EVC

EZH2

FAS

FAT4

FBXO11

FERMT1

FREM2

GRM1

HPSE2

ID3

IDH2

IKBKB

IKZF1

IL12RB2

JAK3

KLF2

L2HGDH

LAMA3

MYC

MYD88

NDUFV3

NFKBIE

NOTCH1

NOTCH2

NPHS2

PDP1

PLCG1

PLCG2

POT1

PRDM1

RHOA

RPS15

RRAGC

SERPIND1

SF3B1

SLC12A6

SOCS1

SOX6

SRY

STAT3

STAT5B

SUMF1

TBL1XR1

TCF3

TDRD7

TET2

TNFAIP3

TNFRSF14

TP53

TP63

TRAF3

UBR5

VCAN

WNK1

XPO1

Myeloid Leukemia NGS Pane

Myeloid Leukemia NGS Panel is an NGS assay designed to detect all types of variants in over 49 genes associated with Myeloid Leukemia.

Gene List / Myeloid Leukemia NGS Panel

ANKRD26

ASXL1

ATRX

BCOR

BCORL1

BRAF

CALR

CBL

CBLB

CEBPA

CSF3R

DDX41

DNMT3A

ETV6

EZH2

FLT3

GATA1

GATA2

HRAS

IDH1

IDH2

JAK2

JAK3

KDM6A

KIT

KRAS

MPL

NOTCH1

NPM1

NRAS

PDGFRA

PHF6

PPM1D

PTPN11

RAD21

RUNX1

SETBP1

SF3B1

SMC1A

SMC3

SRSF2

STAG1

STAG2

STAT3

TET2

TP53

U2AF1

WT1

ZRSR2

ONCOLOGY PANELS

OncoCheck Panel

Hereditary Cancer (Germline Cancer Risk)

Analyze 31 oncogenes associated with inherited cancer and precisely selected from contract research organizations and numerous research studies
Robust bioinformatics system for large deletion analysis
Provides information for HDR grade computation to aid precision medicine for tumor treatment

Gene count 31 genes

Target size 96 kb

Mutation type SNV, Indel, CNV, Rearrangments

Sample type(amount) Blood (> 50 ng of fragmented DNA)

GENE LIST

OncoCheck Panel

APC

ATM

BARD1

BLM

BMPR1A

BRCA1

BRCA2

BRIP1

CDH1

CDK4

CDKN2A

CHEK2

EPCAM

MLH1

MRE11A

MSH2

MSH6

MUTYH

NBN

PALB2

PMS2

PRSS1

PTEN

RAD50

RAD51C

RAD51D

SLX4

SMAD4

STK11

TP53

VHL

CANCERCHECK PANELSomatic Cancer

Cancer Check Panels are NGS assays designed to detect all types of variants associated with somatic cancer. Targeting the selected genes with high sensitivity and speciﬁcity enables saving cost and effort. The report consists of the primary, secondary, and tertiary results for the In-depth understanding and interpretation of sequencing data.

CancerCheck 50 Panel

The CancerCheck 50 Panel is an expanded NGS assay designed to detect all types of variants in over 50 genes associated with somatic cancer.

GENE LIST

OncoCheck Panel 50

ABL1

AKT1

ALK

APC

ATM

BRAF

BRCA1

BRCA2

CDH1

CDK4

CTNNB1

DDR2

EGFR

ERBB2

ERBB4

ESR1

FGFR1

FGFR2

FGFR3

GNA11

IDH1

IDH2

JAK2

KDR

KIT

KRAS

MAP2K1

MET

MLH1

MTOR

NRAS

NTRK1

PDGFRA

PIK3CA

PTCH1

PTEN

PTPN11

RB1

RET

ROS1

CDK6

CDKN2A

CSF1R

GNAQ

GNAS

HRAS

MYC

MYCN

NOTCH1

SMAD4

SMO

SRC

STK11

TP53

CancerCheck 100 Panel

The CancerCheck 50 Panel is an expanded NGS assay designed to detect all types of variants in over 50 genes associated with somatic cancer.

GENE LIST

CancerCheck 100

ABL1

AKT1

AKT2

AKT3

ALK

APC

ARID1A

ARID1B

ARID2

ATM

BARD1

BCL2

BLM

BMPR1A

BRAF

BRCA1

BRCA2

BRIP1

CDH1

CDK4

CSF1R

CTNNB1

DDR2

EGFR

EPCAM

EPHB4

ERBB2

ERBB3

ERBB4

EZH2

FGFR3

FLT3

GNA11

GNAQ

GNAS

HNF1A

HRAS

IDH1

IDH2

IGF1R

JAK3

KDR

KIT

KRAS

MDM2

MET

MLH1

MPL

MRE11

MSH2

NBN

NF1

NOTCH1

NPM1

NRAS

NTRK1

PALB2

PDGFRA

PDGFRB

PIK3CA

PTCH1

PTCH2

PTEN

PTPN11

RAD50

RAD51C

RAD51D

RB1

RET

ROS1

ATRX

AURKA

AURKB

CDK6

CDKN2A

CHEK2

FBXW7

FGFR1

FGFR2

ITK

JAK1

JAK2

MSH6

MTOR

MUTYH

PIK3R1

PMS2

PRSS1

SLX4

SMAD4

SMARCB1

SMO

SRC

STK11

SYK

TERT

TOP1

TP53

VHL

Extraction of nucleic acids (1.5h)

Library construction (5h)

Quality testing (0.5h)

Report interpretation (0.5h)

Raw letter analysis (0.5h)

High-throughput sequencing (8h)

OTHER PANELS

NEUROLOGICAL DISORDERS

Many neurological conditions are caused by immensely heterogeneous gene mutations. The diagnostic process is often long and complex with most patients undergoing multiple invasive and costly investigations without ever reaching a conclusive molecular diagnosis. NGS has shortened the 'Diagnostic Odyssey' for many of these patients.

Neuromuscular NGS Panel

Coverage of 293 genes with Whole CDS and hotspots as Target Regions

List Of Diseases Assessed

• Movement disorders • Neuromuscular disorders
• Charcot-Marie-Tooth disease • Muscular dystrophy

Epilepsy NGS Panel

Coverage of 142 genes with Whole CDS and hotspots as Target Regions

Gene List / Epilepsy NGS Panel

AARS

ABCA13

ABCB11

ADGRV1

ADSL

ALDH7A1

ALG13

ARHGEF15

ARHGEF9

ARX

ASAH1

ATP1A2

ATP6AP2

CACNA1A

CASK

CDKL5

CHD2

CHRNA2

CHRNA4

CHRNA7

CHRNB2

CLCN4

CLN3

CLN5

CLN6

CLN8

CNTNAP2

COG1

COL4A4

CSTB

CTSD

DCX

DEPDC5

DLG3

DNAJC5

DNM1

DNMT1

DOCK7

DYRK1A

EEF1A2

EPM2A

EVC

FERMT1

FOLR1

FOXG1

FREM2

GABRA1

GABRA2

GABRB3

GABRG2

GAMT

GATM

GNAO1

GOSR2

GRIN1

GRIN2A

GRIN2B

GRM1

HCN1

HDAC4

HNRNPU

HPSE2

IL12RB2

IQSEC2

KANSL1

KCNA2

KCNB1

KCNH5

KCNJ10

KCNMA1

KCNQ2

KCNQ3

KCNT1

KCTD7

L2HGDH

LAMA3

LGI1

MAGI2

MBD5

MECP2

MEF2C

MFSD8

NDUFV3

NECAP1

NHLRC1

NPHS2

NR2F1

NRXN1

PCDH19

PDP1

PIGA

PIGO

PIGQ

PIGV

PLCB1

PNKP

PNPO

POLG

PPT1

PRICKLE1

PRICKLE2

PRRT2

QARS

RELN

SCARB2

SCN1A

SCN1B

SCN2A

SCN8A

SCN9A

SERPIND1

SLC12A6

SLC13A5

SLC25A22

SLC2A1

SLC35A2

SLC6A8

SLC9A6

SMS

SOX6

SPTAN1

SRPX2

SRY

ST3GAL3

STXBP1

SUMF1

SYN1

SYNGAP1

SYNJ1

SZT2

TBC1D24

TCF4

TDRD7

TPP1

TSC1

TSC2

UBE3A

VCAN

WDR45

WNK1

WWOX

ZEB2

Gene List / Neuromuscular NGS Panel

AARS

ABCB7

ABCD1

ABHD12

ACAD9

ACADL

ACADM

ACO2

ACTA1

ADCK3

AFG3L2

AGL

AIFM1

ALDH3A2

AMPD1

ANO10

ANO5

AP4B1

AP4E1

AP4M1

AP4S1

AP5Z1

APTX

ARSA

ATCAY

ATL1

ATM

ATP2A1

ATP7A

ATP7B

ATP8A2

BAG3

BEAN1

BIN1

BSCL2

C10orf2

C12orf65

C19orf12

CACNA1A

CACNA1S

CACNB4

CAPN3

CASK

CAV3

CCDC78

CCDC88C

CFL2

CHAT

CHRNA1

CHRNB1

CHRND

CHRNE

CHRNG

CLCN1

CLCN2

CLN5

CNTN1

COL6A1

COL6A2

COL6A3

COLQ

CPT1B

CPT2

CRYAB

CTDP1

CWF19L1

CYP27A1

CYP2U1

CYP7B1

DAG1

DCTN1

DDHD1

DDHD2

DES

DMD

DNAJB2

DNAJB6

DNM2

DNMT1

DOK7

DYNC1H1

DYSF

EEF2

EGR2

ELOVL4

ELOVL5

EMD

ERLIN2

ETFA

ETFB

FA2H

FAM134B

FGD4

FGF14

FHL1

FIG4

FKRP

FKTN

FLNC

FLVCR1

FRMD7

FUS

FXN

GAA

GAD1

GALC

GAN

GARS

GBA2

GDAP1

GJB1

GJC2

GLA

GLE1

GNB4

GNE

GOSR2

GPR143

GRID2

GRM1

GYS1

HADHA

HADHB

HINT1

HOXD10

HSPB1

HSPB8

HSPD1

HSPG2

IGHMBP2

IKBKAP

ISPD

ITGA7

ITPR1

JPH3

KBTBD13

KCNA1

KCNC3

KCND3

KCNE3

KCNJ10

KCNJ18

KIAA0196

KIF1A

KIF1B

KIF1C

KIF5A

KLHL40

KLHL41

L1CAM

LAMA1

LAMA2

LARGE

LDB3

LITAF

LMNA

LPIN1

LRSAM1

MARS

MARS2

MATR3

MED25

MFN2

MPZ

MRE11A

MTM1

MTMR14

MTMR2

MTPAP

MTTP

MUSK

MYF6

MYH2

MYH7

MYOT

NDRG1

NEB

NEFL

NGF

NIPA1

NOP56

NTRK1

OPA1

OPA3

OPHN1

PABPN1

PANK2

PDK3

PDYN

PEX7

PFKM

PGAM2

PHKA1

PHYH

PLEC

PLEKHG5

PLP1

PMM2

PMP22

PNKP

PNPLA6

POLG

POLG2

POMGNT1

POMT1

POMT2

PRKCG

PRPS1

PRX

PTF1A

PTRF

PYGM

RAB7A

RAPSN

REEP1

RNF216

RRM2B

RTN2

RUBCN

RYR1

RYR2

SACS

SBF2

SCN4A

SCN9A

SEPN1

SETX

SGCA

SGCB

SGCD

SGCE

SGCG

SH3TC2

SIL1

SLC12A6

SLC16A2

SLC1A3

SLC33A1

SLC39A4

SLC52A2

SLC9A1

SLC9A6

SMN1

SNX14

SOD1

SPAST

SPG11

SPG20

SPG21

SPG7

SPTBN2

SPTLC1

SPTLC2

STAC3

STUB1

SUCLA2

SYNE1

SYNE2

SYT14

TBP

TCAP

TDP1

TECPR2

TGM6

TK2

TMEM240

TNNI2

TNNT1

TPM2

TPM3

TPP1

TRIM32

TRPV4

TTBK2

TTN

TTPA

TTR

TUBB4A

TYMP

VAMP1

VCP

VLDLR

VPS13A

VPS37A

VRK1

WFS1

WNK1

WWOX

YARS

ZFYVE26

ZFYVE27

ZNF592

Alzheimer-Parkinson-Dementia NGS Panel

Coverage of 101 genes with Whole CDS and hotspots as Target Regions

List Of Diseases Assessed

• Alzheimer's disease • Parkinson's disease • Dementia • Dystonia

Gene List/ Alzheimer-Parkinson- Dementia NGS Panel

AARS

ABCA13

ABCA7

ABCB11

ADCY5

ALS2

ANG

ANO3

APP

ATP13A2

ATP1A3

ATP7B

C19orf12

CACNA1B

CHCHD10

CHMP2B

CHRNA4

CIZ1

COG1

COL4A4

COL6A3

DAO

DCTN1

DNMT1

EVC

FERMT1

FIG4

FREM2

FUS

GBA

GCH1

GNAL

GNAO1

GRM1

GRN

HNRNPA1

HNRNPA2B1

HPCA

HPSE2

IL12RB2

KCTD17

KMT2B

L2HGDH

LAMA3

LRRK2

MAPT

MATR3

MECR

NDUFV3

NEK1

NPHS2

OPTN

PANK2

PARK7

PDP1

PINK1

PLA2G6

PNKD

PRKN

PRKRA

PRNP

PRRT2

PSEN1

PSEN2

RELN

SERPIND1

SETX

SGCE

SIGMAR1

SLC12A6

SLC19A3

SLC2A1

SLC30A10

SLC6A3

SNCA

SOD1

SORL1

SOX6

SPG11

SQSTM1

SRY

SUMF1

TAF1

TAF15

TARDBP

TBK1

TDRD7

THAP1

TIMM8A

TOR1A

TREM2

TUBA4A

TUBB4A

UBQLN2

VAC14

VAPB

VCAN

VCP

VPS13A

WNK1

OTHER PANELS

The Genetic Clinic have developed different panels for assessing genes of related diseases
(Disease speciﬁc Panels)

It includes comprehensive analysis of a broad range of
Bleeding disorder/ Coagulation and Inborn errors of metabolism.

Metabolic Disorders NGS Panel

Coverage of 71 genes with Whole CDS and hotspots as Target Regions

Gene List / Metabolic Disorders NGS Panel

ABCD1

ACAD8

ACADM

ACADS

ACADSB

ACADVL

ACAT1

AHCY

ARG1

ASL

ASS1

AUH

BCKDHA

BCKDHB

BTD

CBS

CPS1

CPT1A

CPT2

DBT

DECR1

DHCR7

DLD

ETFA

ETFB

ETFDH

FAH

GALE

GALK1

GALT

GAMT

GATM

GCDH

GCH1

GNMT

HADH

HADHA

HADHB

HLCS

HMGCL

HPD

HSD17B10

IVD

LMBRD1

MAT1A

MCCC1

MCCC2

MLYCD

MMAA

MMAB

MMACHC

MMADHC

MMUT

MTHFR

MTR

MTRR

OPA3

OTC

PAH

PCBD1

PCCA

PCCB

PTS

QDPR

SLC22A5

SLC25A13

SLC25A20

SLC6A8

TAT

TAZ

TCN2

Skin Disorders NGS Panel

Coverage of 152 genes with Whole CDS and hotspots as Target Regions

Gene List/ Skin Disorders NGS Panel

ABCA12

ABCB6

ABCC6

ABHD5

ADAMTS2

ADAR

ALAD

ALAS2

ALDH3A2

ALOX12B

ALOXE3

AP1S1

ATM

ATP2A2

ATP2C1

ATP6V0A2

BLM

CARD14

CDH3

CDSN

CLDN1

COL17A1

COL1A1

COL1A2

COL3A1

COL5A1

COL5A2

COL7A1

CPOX

CTC1

CTSC

CYP4F22

DDB2

DKC1

DOCK8

DSG1

DSG4

DSP

DST

EBP

ECM1

EDA

EDAR

EDARADD

EFEMP2

ELN

ERCC2

ERCC3

ERCC4

ERCC5

EXPH5

FANCA

FANCC

FANCG

FECH

FERMT1

FLCN

FLG

GJB2

GJB3

GJB4

GJB6

GNAS

GORAB

GPR143

GSN

GTF2H5

HFE

HMBS

IL36RN

ITGA3

ITGA6

ITGB4

JUP

KIT

KRT1

KRT10

KRT14

KRT16

KRT17

KRT2

KRT5

KRT6A

KRT6B

KRT6C

KRT81

KRT83

KRT86

KRT9

LAMA3

LAMB3

LAMC2

LIPH

LIPN

LOR

LPAR6

LYST

MBTPS2

NF1

NF2

NHP2

NIPAL4

NOP10

NSDHL

OCA2

PKP1

PLEC

PLOD1

PNPLA1

POFUT1

POGLUT1

POLH

POMP

PPOX

PRKAR1A

PTCH1

PTCH2

PYCR1

RECQL4

RTEL1

SLC27A4

SLC39A4

SLC45A2

SLURP1

SNAP29

SPINK5

SPRED1

ST14

STAT3

STS

SUFU

TERC

TERT

TGM1

TGM5

TINF2

TNXB

TRPV3

TSC1

TSC2

TTR

TYK2

TYR

TYRP1

UROD

UROS

WAS

WRAP53

XPA

XPC

ZMPSTE24

Bleeding Disorder/ Coagulopathy NGS Panel

Coverage of 139 genes with Whole CDS and hotspots as Target Regions

Gene List / Bleeding Disorder-Coagulopathy NGS Panel

AARS

ABCA1

ABCA13

ABCB11

ACTN1

ANKRD26

ANO6

AP3B1

BLOC1S3

BLOC1S6

BRCA1

BRCA2

BRIP1

CD36

CDAN1

COG1

COL4A4

CYCS

DDX41

DKC1

DNMT1

DTNBP1

ELANE

ERCC4

ETV6

EVC

F10

F11

F13A1

F13B

FANCA

FANCB

FANCC

FANCD2

FANCE

FANCF

FANCG

FANCI

FANCL

FANCM

FERMT1

FERMT2

FGA

FGB

FGG

FLI1

FREM2

FYB1

GATA1

GATA2

GFI1

GFI1B

GP1BA

GP1BB

GP6

GP9

GRM1

HAX1

HOXA11

HPS1

HPS3

HPS4

HPS5

HPS6

HPSE2

IFNG

IL12RB2

ITGA2B

ITGB3

L2HGDH

LAMA3

LMAN1

LYST

MASTL

MCFD2

MLPH

MPL

MYH9

MYO5A

NBEAL2

NBN

NDUFV3

NHP2

NOP10

NPHS2

P2RY12

PALB2

PDP1

PLA2G4A

PLAU

PRF1

PRKACG

RAB27A

RAD51C

RASGRP2

RBM8A

RPL11

RPL35A

RPL5

RPS10

RPS19

RPS24

RPS26

RPS7

RUNX1

SBDS

SEC23B

SERPIND1

SERPINE1

SERPINF2

SLC12A6

SLFN14

SLX4

SOX6

SRC

SRP72

SRY

STIM1

SUMF1

TBXA2R

TBXAS1

TDRD7

TERC

TERT

TINF2

UBE2T

VCAN

VIPAS39

VPS33B

VWF

WAS

WIPF1

WNK1

XRCC2