Inherited Disease Panel

When it comes to diagnosis of inherited diseases in newborns, speed and accuracy make all the difference. Thanks to our Inherited Disease Panel, the diagnose may be faster and more effective than it was ever before.

Inherited disease presentations are often undifferentiated at birth what causes difficulties in diagnosis and sometimes neonatal mortality. Clinical testing is available  only for some of inherited diseases  Therefore, there is a great need to provide improved molecular diagnosis in infants.. The progress of the disease is very rapid and specific for each of the cases, because of which diagnosis must be adequate and given as early as posible,  

That is why the DNA Research Center has introduced a multi-gene test that will help to diagnose inherited diseases using next generation DNA sequencing. The DNA Research Centeris a world-class research facility that will revolutionize diagnostic of inherited diseases in one assay. Our Inherited Disease Panel targets  over 8 800 exons, spanning 552 genes of interest linked specifically to a wide spectrum of inherited diseases. It includes coding exons, intron-exon boundaries and regions known to harbor pathogenic mutations.

Inherited Disease Panel consists of a 448 disease panels designed for preconception carrier testing for severe, recessive -pediatric diseases published by Dr. Kingsmore and team in Science Translational Medicine1, ultra-rate diseases revised by Dr. Saunders, FACMG, at CMH (following ACMG guidelines for testing ultra-rare genetic diseases) and intellectual disability genes.

Statistics

Taken individually, Mendelian recessive disorders appear to be uncommon, but when reviewed as a group, these diseases appear within a significant portion of the population. In fact, Mendelian diseases collectively account for ~20% of infant mortalities and ~18% of pediatric hospitalizations2. Molecular tests are currently available for a little over 25% of these disorders, contributing to a decline of their appearance. To continue this trend, it is imperative to research screening methods for other recessive inherited disorders. Many of the severe, recessive, pediatric-onset Mendelian disorders are due to pathogenic mutations found in coding exons and intron-exon boundaries.

Application

A newly developed test could also screen would-be parents for hundreds of different disease genes, to make sure they are not passed on to any future children. This test is relevant to everyone  considering having a child.

Already, a couple of companies offer a routine preconception screening test for couples. But these currently available tests screen for far fewer diseases and can detect only known mutations — and for many rare disorders, the mutations are yet not described . That is why, sequencing of parents or affected siblings will expedite the identification of disease genes in prospective cases. Thus, rapid Inherited Disease Panel offered by the DNA Research Center can potentially broaden and foreshorten differential diagnosis, resulting in fewer empirical treatments and faster progression to genetic and prognostic counseling.

Genes captured:

AAAS

CD3G

ERBB3

HLCS

NAGLU

PPT1

SURF1

ABCA12

CD40LG

ERCC2

HMGCL

NAGS

PQBP1

SYP

ABCA3

CDH23

ERCC3

HPD

NBN

PRF1

TAT

ABCB11

CDKL5

ERCC4

HPRT1

NDP

PROP1

TAZ

ABCB4

CEP290

ERCC5

HSD11B2

NDUFA1

PRPS1

TBCE

ABCC8

CFP

ERCC6

HSD17B10

NDUFA7

PRSS12

TCF4

ABCD1

CFTR

ERCC8

HSD17B3

NDUFAF2

PRX

TCIRG1

ACAD9

CHRNA1

ESCO2

HSD17B4

NDUFAF4

PSAP

TGM1

ACADL

CHRND

ETFA

HSD3B2

NDUFS3

PTEN

TH

ACADM

CHRNG

ETFB

HSPG2

NDUFS4

PTH1R

TIMM8A

ACADVL

CLCN5

ETFDH

HUWE1

NDUFS5

PYGM

TK2

ACAT1

CLCN7

ETHE1

ICOS

NDUFS6

RAB23

TLR3

ACOX1

CLDN1

EVC

IDS

NDUFS7

RAB27A

TMEM67

ACSL4

CLDN19

EVC2

IDUA

NDUFS8

RAB39B

TNFRSF11B

ADA

CLN3

F8

IFNGR1

NDUFV1

RAB3GAP1

TPP1

ADAMTS13

CLN5

F9

IFNGR2

NEB

RAB3GAP2

TRAPPC9

ADAMTSL2

CLN6

FAH

IFT80

NEU1

RAG1

TREX1

ADCK3

CLN8

FAM126A

IGHMBP2

NEUROG3

RAG2

TRIM37

AFF2

CLRN1

FAM20C

IKBKAP

NHEJ1

RAPSN

TSEN54

AGL

COG1

FANCC

IKBKG

NHLRC1

RELN

TSFM

AGPS

COG7

FAS

IL12B

NHS

RFT1

TSHB

AGTR2

COG8

FASLG

IL12RB1

NLGN4X

RMRP

TSPYL1

AHI1

COL17A1

FASTKD2

IL1RAPL1

NPC1

RNASEH2A

TTPA

AIRE

COL4A3

FBLN5

IL1RN

NPC2

RNASEH2B

TUBA1A

ALDH3A2

COL4A4

FERMT3

IL2RG

NPHP1

RNASEH2C

TUFM

ALDH5A1

COL4A5

FGA

INSR

NPHP3

RPGRIP1L

TUSC3

ALDH7A1

COL7A1

FGD1

INVS

NPHP4

RPL10

TYK2

ALDOB

COQ2

FGD4

IQCB1

NPHS1

RPS6KA3

TYMP

ALG1

COQ9

FH

ITGA6

NPHS2

RRM2B

UBA1

ALG12

COX10

FKRP

ITGB4

NR5A1

SACS

UBE2A

ALG2

COX15

FKTN

IVD

NSD1

SAMHD1

UBE3A

ALG3

COX6B1

FOLR1

JAK3

NSUN2

SBDS

UBR1

ALG6

CPS1

FOXG1

KCNJ1

NTRK1

SC5DL

UNC13D

ALG8

CPT1A

FOXN1

KDM5C

NUP62

SCNN1A

UNC93B1

ALG9

CPT2

FOXP3

L1CAM

NXF5

SCNN1B

UPF3B

ALMS1

CRLF1

FRAS1

LAMA2

OCRL

SCNN1G

UQCRB

ALPL

CRTAP

FREM2

LAMA3

OFD1

SCO1

UQCRQ

ALS2

CSTB

FTSJ1

LAMB2

OPA3

SCO2

UROS

AMACR

CTNS

FUCA1

LAMB3

OPHN1

SEPN1

USH1C

AMT

CTSD

G6PC3

LAMC2

ORAI1

SFTPB

USH1G

ANTXR2

CTSK

G6PD

LARGE

OSTM1

SFTPC

USH2A

AP1S2

CUL4B

GAA

LBR

OTC

SGSH

VDR

AP3B1

CYP11A1

GALC

LEPRE1

PAH

SH2D1A

VIPAR

APTX

CYP11B1

GALK1

LHCGR

PAK3

SHROOM4

VLDLR

AR

CYP17A1

GALT

LHX3

PANK2

SIL1

VPS13B

ARHGEF6

CYP21A2

GAMT

LIFR

PC

SLC12A1

VPS33B

ARHGEF9

CYP27A1

GBA

LIG4

PCCA

SLC12A6

WAS

ARSA

CYP27B1

GBE1

LRP2

PCCB

SLC16A2

WNT10A

ARSB

DBT

GCDH

LRPPRC

PCDH19

SLC17A5

WNT3

ARSE

DCLRE1C

GCSH

LYST

PDHA1

SLC22A5

WNT7A

ARX

DCX

GDAP1

MAN2B1

PDHX

SLC25A15

XIAP

ASL

DDB2

GDI1

MBTPS2

PDP1

SLC25A20

XPA

ASPA

DDC

GFM1

MCOLN1

PDSS1

SLC25A22

XPC

ASS1

DGUOK

GJB2

MECP2

PDSS2

SLC26A2

ZDHHC9

ATM

DHCR24

GJC2

MED12

PEX1

SLC35A1

ZEB2

ATP6V0A2

DHCR7

GLA

MEFV

PEX10

SLC35C1

ZIC3

ATP7A

DKC1

GLB1

MFSD8

PEX12

SLC35D1

ZMPSTE24

ATP7B

DLD

GLDC

MGAT2

PEX13

SLC37A4

ZNF41

ATP8B1

DLG3

GLE1

MID1

PEX26

SLC4A11

ZNF469

ATR

DLL3

GNPTAB

MKS1

PEX5

SLC6A8

ZNF674

ATRX

DMD

GNRHR

MLC1

PEX7

SLC9A6

ZNF711

AUH

DMP1

GPC3

MMAA

PKHD1

SMN1

COL1A1

B4GALT1

DNAJC19

GPR98

MMAB

PKLR

SMPD1

COL1A2

BCKDHA

DNMT3B

GRIK2

MMACHC

PLA2G6

SMS

COL6A1

BCKDHB

DOCK8

GSS

MOCS1

PLCE1

SNAP29

COL6A2

BCOR

DOLK

GTF2H5

MOCS2

PLDN

SOX3

COL6A3

BCS1L

DPAGT1

GUSB

MOGS

PLEC

SP110

DOK7

BLM

DPM1

HADH

MPDU1

PLEKHG5

SRD5A2

G6PC

BRWD3

DPYD

HADHA

MPI

PLG

SRD5A3

HIBCH

BTD

DSP

HADHB

MPL

PLOD1

ST3GAL3

LMNA

BTK

DYNC2H1

HAMP

MPV17

PLP1

ST3GAL5

OXCT1

C10orf2

EDA

HAX1

MPZ

PMM2

STAR

UBE3A

CA2

EDN3

HBA1

MRPS16

PMP22

STAT1

 

CASK

EDNRB

HBB

MRPS22

PNPO

STIM1

 

CASP10

EFEMP2

HESX1

MTM1

POLG

STRA6

 

CBS

EFNB1

HEXA

MUT

POMGNT1

STX11

 

CD19

EGR2

HEXB

MVK

POMT1

STXBP2

 

CD247

EIF2AK3

HFE2

MYD88

POMT2

SUCLA2

 

CD3D

ENPP1

HGSNAT

MYO5A

POR

SUCLG1

 

CD3E

EPM2A

HIBCH

MYO7A

POU1F1

SUOX

 

References:

1. Saunders CJ, Miller NA, Soden SE, Dinwiddie DL, Noll A, et al. (2012) Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units. Sci Transl Med. 4: 154ra135.  

2. Kingsmore S. (2012): Comprehensive Carrier Screening and Molecular Diagnostic Testing for Recessive Childhood Diseases. PLOS Curr. 10.1371/4f9877ab8ffa9