Comprehensive Epilepsy and Seizure Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy GenesGene CPT Codes Copy CPT Codes
5245 AARS81479,81479 Add to Order
ABCD181405,81479
ACTL6B81479,81479
ACY181479,81479
ADAM2281479,81479
ADGRG181479,81479
ADGRV181479,81479
ADNP81479,81479
ADSL81479,81479
AIFM181479,81479
ALDH7A181406,81479
ALG1381479,81479
AMT81479,81479
ANKRD1181479,81479
ANXA1181479,81479
AP1S281479,81479
AP3B281479,81479
ARFGEF281479,81479
ARHGAP3181479,81479
ARHGEF981479,81479
ARID1B81479,81479
ARV181479,81479
ARX81404,81403
ASAH181479,81479
ASXL281479,81479
ATP1A281406,81479
ATP1A381479,81479
ATP6AP281479,81479
ATRX81479,81479
BCKDK81479,81479
BCOR81479,81479
BRAT181479,81479
C12orf5781479,81479
CACNA1A81185,81479
CACNA1B81479,81479
CACNA1C81479,81479
CACNA1D81479,81479
CACNA1H81479,81479
CACNB481479,81479
CAD81479,81479
CARS281479,81479
CASK81479,81479
CCDC88A81479,81479
CD9681479,81479
CDKL581406,81405
CERS181479,81479
CHD281479,81479
CHRNA281479,81479
CHRNA481405,81479
CHRNB281405,81479
CIC81479,81479
CLCN281479,81479
CLCN481479,81479
CLIC281479,81479
CLN381479,81479
CLN581479,81479
CLN681479,81479
CLN881479,81479
CLTC81479,81479
CNPY381479,81479
CNTN281479,81479
CNTNAP281406,81479
COL18A181479,81479
COL4A181408,81479
COL4A281479,81479
CPA681479,81479
CPLX181479,81479
CRBN81479,81479
CRH81479,81479
CSTB81189,81479
CTNNB181479,81479
CTSD81479,81479
CTSF81479,81479
CUL4B81479,81479
CYFIP281479,81479
DCX81405,81479
DDX3X81479,81479
DEAF181479,81479
DENND5A81479,81479
DEPDC581479,81479
DHCR781405,81479
DHDDS81479,81479
DLG381479,81479
DMXL281479,81479
DNM181479,81479
DNMT3A81479,81479
DOCK681479,81479
DOCK781479,81479
DYRK1A81479,81479
EBP81479,81479
EEF1A281479,81479
EFHC181479,81479
EML181479,81479
EPG581479,81479
EPM2A81404,81479
EXT281479,81479
EXTL381479,81479
FARS281479,81479
FGF1281479,81479
FKTN81405,81479
FLNA81479,81479
FMN281479,81479
FOLR181479,81479
FOXG181404,81479
FRMPD481479,81479
FRRS1L81479,81479
GABBR281479,81479
GABRA181479,81479
GABRB181479,81479
GABRB281479,81479
GABRB381479,81479
GABRG281405,81479
GAMT81479,81479
GATM81479,81479
GDI181479,81479
GFAP81405,81479
GLDC81479,81479
GM2A81479,81479
GNAO181479,81479
GNB181479,81479
GOSR281479,81479
GPAA181479,81479
GRIA381479,81479
GRIN181479,81479
GRIN2A81479,81479
GRIN2B81479,81479
GRIN2D81479,81479
GUF181479,81479
HCN181479,81479
HCN281479,81479
HECW281479,81479
HIVEP281479,81479
HNRNPU81479,81479
IER3IP181479,81479
IL1RAPL181479,81479
IQSEC281479,81479
ITPA81479,81479
KANSL181479,81479
KCNA281479,81479
KCNB181479,81479
KCNC181479,81479
KCNH181479,81479
KCNJ181404,81479
KCNJ1081404,81479
KCNJ681479,81479
KCNMA181479,81479
KCNQ281406,81479
KCNQ381479,81479
KCNT181479,81479
KCTD781479,81479
KDM5C81407,81479
KIF4B81479,81479
KPTN81479,81479
L1CAM81407,81479
LAMC381479,81479
LGI181479,81479
LMNB281479,81479
MAGI281479,81479
MBD581479,81479
MBTPS281479,81479
MDH281479,81479
MECP281302,81304
MED13L81479,81479
MED1781479,81479
MED2581479,81479
MEF2C81479,81479
METTL2381479,81479
MFSD881479,81479
MID281479,81479
MLC181479,81479
MOCS181479,81479
MTFMT81479,81479
MTOR81479,81479
MYO5A81479,81479
NAA1081479,81479
NACC181479,81479
NAGA81479,81479
NAXE81479,81479
NDP81404,81403
NDST181479,81479
NECAP181479,81479
NEDD4L81479,81479
NEXMIF81479,81479
NF181408,81479
NHLRC181403,81479
NLGN4X81405,81404
NPRL281479,81479
NPRL381479,81479
NRXN181479,81479
NSD181406,81405
NSDHL81479,81479
NTRK281479,81479
NUS181479,81479
OCLN81479,81479
OCRL81479,81479
OPHN181479,81479
OSBP81479,81479
OSGEP81479,81479
PACS181479,81479
PACS281479,81479
PAFAH1B181406,81405
PAK381479,81479
PCDH1981405,81479
PHGDH81479,81479
PIGA81479,81479
PIGG81479,81479
PIGL81479,81479
PIGM81479,81479
PIGN81479,81479
PIGO81479,81479
PIGP81479,81479
PIGT81479,81479
PIGV81479,81479
PIGW81479,81479
PIK3AP181479,81479
PLAA81479,81479
PLCB181479,81479
PLPBP81479,81479
PNKP81479,81479
PNPO81479,81479
POLG81406,81479
POMT181406,81479
POMT281406,81479
PPP2R1A81479,81479
PPP3CA81479,81479
PPT181479,81479
PQBP181405,81404
PRICKLE181479,81479
PRMT781479,81479
PRPS181479,81479
PRRT281479,81479
PSAT181479,81479
PSPH81479,81479
PTEN81321,81323
PURA81479,81479
QARS81479,81479
RAB11A81479,81479
RAB39B81479,81479
RELN81479,81479
RHOBTB281479,81479
RNF12581479,81479
RNF1381479,81479
ROGDI81479,81479
RORB81479,81479
RPL1081479,81479
RPS6KA381479,81479
RRN381479,81479
RTTN81479,81479
SCARB281479,81479
SCN10A81479,81479
SCN1A81407,81479
SCN1B81404,81479
SCN2A81479,81479
SCN3A81479,81479
SCN8A81479,81479
SCN9A81479,81479
SETBP181479,81479
SETD281479,81479
SIN3A81479,81479
SLC12A181407,81479
SLC12A381407,81479
SLC12A581479,81479
SLC13A581479,81479
SLC17A581479,81479
SLC19A381479,81479
SLC1A281479,81479
SLC25A1281479,81479
SLC25A2281479,81479
SLC2A181405,81479
SLC35A281479,81479
SLC6A181479,81479
SLC6A881479,81479
SLC9A681406,81479
SMARCA281479,81479
SMC1A81479,81479
SNAP2581479,81479
SNX1481479,81479
SON81479,81479
SPATA581479,81479
SPTAN181479,81479
SRPX281479,81479
ST3GAL381479,81479
ST3GAL581479,81479
STRADA81479,81479
STX1B81479,81479
STXBP181406,81479
STXBP5L81479,81479
SUOX81479,81479
SYN181479,81479
SYNGAP181479,81479
SYNJ181479,81479
SZT281479,81479
TBC1D2381479,81479
TBC1D2481479,81479
TBL1XR181479,81479
TCF481406,81405
TGDS81479,81479
TNK281479,81479
TPP181479,81479
TRAPPC6B81479,81479
TRAPPC981479,81479
TREX181479,81479
TRIO81479,81479
TSC181406,81405
TSC281407,81406
TUBA1A81479,81479
TUBA881479,81479
TUBB2A81479,81479
TUBB2B81479,81479
TUBB381479,81479
TUBG181479,81479
UBA581479,81479
UBE2A81479,81479
UBE3A81406,81479
UBTF81479,81479
VLDLR81479,81479
WAC81479,81479
WASF181479,81479
WDR4581479,81479
WWOX81479,81479
YWHAG81479,81479
ZC4H281479,81479
ZEB281405,81404
ZNHIT381479,81479
Test Code Test Copy Genes Total Price Panel CPT Code Gene CPT Codes Copy CPT Code STAT
5245 Genes x (324) $1490 81479 81185, 81189, 81302, 81304, 81321, 81323, 81403, 81404, 81405, 81406, 81407, 81408, 81479 Add to Order

Pricing Comments

We are happy to accommodate requests for testing single genes in this panel or a subset of these genes. The price will remain the list price. If desired, free reflex testing to remaining genes on panel is available. Alternatively, a single gene or subset of genes can also be ordered via our PGxome Custom Panel tool.

A 25% additional charge will be applied to STAT orders. View STAT turnaround times here.

For Reflex to PGxome pricing click here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

Turnaround Time

18 days on average

EMAIL CONTACTS

Genetic Counselors

Geneticist

Clinical Features and Genetics

Clinical Features

Epilepsy is one of the most common neurological disorders, affecting up to 4% of people. Epilepsy is also a highly heterogeneous disorder, with great variation in the age of onset, the etiology of disease, the type of seizures and epilepsy, developmental outcome, EEG and image findings (MRI, etc), the response to medication, and a wide range of comorbidities. The group of genetic epilepsy has a wide phenotypic spectrum, ranging from mild seizure disorders in patients with normal cognition to severe early-onset epileptic encephalopathies associated with severe developmental delay and intellectual disability. Etiology of epilepsy includes structural, genetic, infectious, metabolic, immune and unknown causes. Seizures are classified into focal onset, generalized onset, and unknown onset while epilepsy is divided into focal, generalized, combined generalized and unknown type. An epilepsy syndrome refers to a cluster of features incorporating seizure types, together with EEG, and imaging findings (Sharma and Prasad. 2013. PubMed ID: 23250121; Wilmshurst et al. 2015. PubMed ID: 26122601; Scheffer et al. 2017. PubMed ID: 28276062; Fisher et al. 2017. PubMed ID: 28276064).

Genetics

This panel contains more than 300 genes including numerious well-characterized gene causative for epilepsy syndromes and non-syndromic epilepsy genes, developmental epileptic encephalopathies-related genes, epilepsy with intellectual disability genes, as well as newly discovered epilepsy or seizure genes. This panel also covers other relevant disorders in which patients present epilepsy or seizure as one of their symptoms, for example, metabolic disorders, brain malformation disorders, mitochondrial disorders, brain tumors, developmental delay etc. (Wilmshurst et al. 2015. PubMed ID: 26122601; Baldassari et al. 2016. PubMed ID: 27208208; Ricos et al. 2016. PubMed ID: 26505888; Møller et al. 2016. PubMed ID: 27781031; de Kovel et al. 2016. PubMed ID: 27652284; Hildebrand et al. 2016. PubMed ID: 27029629; von Spiczak et al. 2017. PubMed ID: 28667181; Hamdan et al. 2017. PubMed ID: 29100083). The following list shows a few examples of certain well-known epilepsy disorders:

Tuberous Sclerosis: TSC1 and TSC2

Infantile Spasm: ADSL, ARX, CDKL5, PNPO, MEF2C, SCN1A, SCN2A, STXBP1, TSC1, TSC2

Focal epilepsy: CHRNA4, CHRNB2, CHRNA2, CNTNAP2, DEPDC5, KCNT1, GRIN2A, GRIN2B, LGI1, NPRL2, NPRL3, PCDH19, RELN, SCN1A, TBC1D24

Dravet Syndrome: SCN1A, SCN1B, GABRG2, SCN2A, SCN9A, PCDH19, GABRA1, STXBP1 and CHD2.

Generalized Epilepsy with Febrile Seizures Plus (GEFS+): SCN1A, SCN1B, SCN2A, SCN9A), GABRG2, STX1B

Autosomal Dominant Nocturnal Frontal Lobe Epilepsy: CHRNA4, CHRNB2, CHRNA2, DEPDC5, KCNT1

Benign Familial Neonatal or Infantile Seizures: KCNQ2, KCNQ3, PRRT2

Early-onset Absence Epilepsy: SLC2A1

X-linked Infantile Spasms: ARX

Epilepsy and Mental Retardation Limited to Females: PCDH19

Ohtahara Syndrome: ARX, STXBP1, SCN2A, KCNQ2, KCNT1, SLC25A22, CDKL5, PNKP, and SPTAN1.

Rett Syndrome: MECP2, CDKL5, FOXG1

Angelman syndrome: UBE3A

Mowat-Wilson syndrome: ZEB2

Neuronal Ceroid Lipofuscinosis:TPP1, PPT1, CLN3, CLN5, CLN6, MFSD8, CLN8, CTSF, KCTD7

Lafora Disease : EPM2A, NHLRC1

Selected Metabolic Disorders: FOLR1, GAMT, ALDH7A1, PNPO, SLC19A3

Mitochondrial Disease: POLG, FARS2, SLC25A22

Cortical dysplasia, complex, with other brain malformations: TUBA8, TUBB2A, TUBB2B, TUBB3, TUBG1

Importantly, this panel also covers following genes for which there is known epilepsy treatment:

Gene Name Inheritance Mode Epilepsy Treatment Related References
ALDH7A1 AR Bennett et al. 2009. PubMed ID: 19128417
BCKDK AR Oyarzabal et al. 2016. PubMed ID: 26809120
CAD AR Koch et al. 2017. PubMed ID:28007989
CHRNA4 AD Kurahashi and Hirose 2015. PubMed ID: 20301348
DEPDC5 AD Myers and Scheffer 2017. PubMed ID: 28406046
FOLR1 AR Steinfeld et al. 2009. PubMed ID: 19732866
GAMT AR Bodamer et al. 2009. PubMed ID: 19255414
GRIN2A AD Pierson et al 2014. PubMed ID: 24839611
GRIN2B AD Platzer et al 2017. PubMed ID: 28377535
GRIN2D AD Li et al. 2016. PubMed ID: 27616483
KCNQ2 AD Sands et al. 2016. PubMed ID: 27888506
KCNQ3 AD Sands et al. 2016. PubMed ID: 27888506
KCNT1 AD Mikati et al 2015. PubMed ID: 26369628
PCDH19 AD Trivisano et al 2015. PubMed ID: 25510386
PNPO AR Bagci et al. 2007. PubMed ID: 18296573
POLG AR Hynynen et al 2014. PubMed ID: 25065347
PLPBP AR Darin et al 2016. PubMed ID: 27912044
PRRT2 AD Chou et al 2014. PubMed ID: 25520928
SCN1A AD Miller and Sotero de Menezes 2007. PubMed ID: 20301494.
SCN2A AD Wolff et al 2017. PubMed ID: 28379373
SCN8A AD Boerma et al 2016. PubMed ID: 26252990
SLC19A3 AR Tabarki et al. 2013. PubMed ID: 23269594
SLC2A1 AD Leen et al. 2010. PubMed ID: 20129935
STXBP1 AD Dilena et al 2016. PubMed ID: 26212315
TSC1 AD Palavra et al 2017. PubMed ID: 28386314
TSC2 AD Palavra et al 2017. PubMed ID: 28386314

The genetic etiology of the different epilepsies is extremely heterogeneous, ranging from monogenic causes with little or no influence from modifiers or environmental factors to genetically complex forms involving multiple genes, modifier genes and environmental factors (Lemke et al. 2012. PubMed ID: 22612257; Wilmshurst et al. 2015. PubMed ID: 26122601). Epilepsy/seizure disorders can be inherited in autosomal dominant, autosomal recessive and X-linked manner or complex inheritance. Many epilepsy/seizure cases are sporadic, occurring in families with no prior history of seizures. Sporadic cases of epilepsy/seizure are commonly caused by dominant, de novo pathogenic variants in epilepsy-related genes (Allen et al. 2013. PubMed ID: 23934111; Møller et al. 2016. PubMed ID: 27781031; Wilfert et al. 2017. PubMed ID: 29179772; Scheffer et al. 2017. PubMed ID: 28276062; Fisher et al. 2017. PubMed ID: 28276064). Mosaicism may affect the severity of the epilepsy, and a genetic etiology does not exclude an environmental contribution (Scheffer et al. 2017. PubMed ID: 28276062).

See individual gene test descriptions for information on molecular biology of gene products and mutation spectra.

Testing Strategy

This panel typically provides 97.8% coverage of all coding exons of the genes plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define coverage as ≥20X NGS reads or Sanger sequencing.

Since this test is performed using exome capture probes, a reflex to any of our exome based tests is available (PGxome, PGxome Custom Panels).

Clinical Sensitivity - Sequencing with CNV

This panel includes genes causative for autosomal dominant, autosomal recessive and X-linked epilepsy and seizures. Extrapolating from previously published studies of next generation sequencing in large cohorts of patients with early infantile epileptic encephalopathy, we predict that our comprehensive epilepsy and seizure panel will identify pathogenic variants more than 37% of early infantile epileptic encephalopathy cases with unknown cause (Della Mina et al. 2015. PubMed ID:24848745; Wang et al. 2014. PubMed ID:24818677; Ream et al. 2014.PubMed ID:25108116). In particular, clinical sensitivity for autosomal dominant nocturnal frontal lobe epilepsy is more than 25-35%, while for autosomal dominant focal epilepsy, the sensitivity is more than 12-37% (Dibbens et al. 2013. PubMed ID:23542697; Picard et al. 2014. PubMed ID:24814846). This panel could identify pathogenic variants in more than 90% of Dravet syndrome patients (Carvill et al. 2014. PubMed ID:24623842).

Indications for Test

Patients with symptoms suggestive of epilepsy and seizure are recommended.

Genes

Official Gene Symbol OMIM ID
AARS 601065
ABCD1 300371
ACTL6B 612458
ACY1 104620
ADAM22 603709
ADGRG1 604110
ADGRV1 602851
ADNP 611386
ADSL 608222
AIFM1 300169
ALDH7A1 107323
ALG13 300776
AMT 238310
ANKRD11 611192
ANXA11 602572
AP1S2 300629
AP3B2 602166
ARFGEF2 605371
ARHGAP31 610911
ARHGEF9 300429
ARID1B 614556
ARV1 611647
ARX 300382
ASAH1 613468
ASXL2 612991
ATP1A2 182340
ATP1A3 182350
ATP6AP2 300556
ATRX 300032
BCKDK 614901
BCOR 300485
BRAT1 614506
C12orf57 615140
CACNA1A 601011
CACNA1B 601012
CACNA1C 114205
CACNA1D 114206
CACNA1H 607904
CACNB4 601949
CAD 114010
CARS2 612800
CASK 300172
CCDC88A 609736
CD96 606037
CDKL5 300203
CERS1 606919
CHD2 602119
CHRNA2 118502
CHRNA4 118504
CHRNB2 118507
CIC 612082
CLCN2 600570
CLCN4 302910
CLIC2 300138
CLN3 607042
CLN5 608102
CLN6 606725
CLN8 607837
CLTC 118955
CNPY3 610774
CNTN2 190197
CNTNAP2 604569
COL18A1 120328
COL4A1 120130
COL4A2 120090
CPA6 609562
CPLX1 605032
CRBN 609262
CRH 122560
CSTB 601145
CTNNB1 116806
CTSD 116840
CTSF 603539
CUL4B 300304
CYFIP2 606323
DCX 300121
DDX3X 300160
DEAF1 602635
DENND5A 617278
DEPDC5 614191
DHCR7 602858
DHDDS 608172
DLG3 300189
DMXL2 612186
DNM1 602377
DNMT3A 602769
DOCK6 614194
DOCK7 615730
DYRK1A 600855
EBP 300205
EEF1A2 602959
EFHC1 608815
EML1 602033
EPG5 615068
EPM2A 607566
EXT2 608210
EXTL3 605744
FARS2 611592
FGF12 601513
FKTN 607440
FLNA 300017
FMN2 606373
FOLR1 136430
FOXG1 164874
FRMPD4 300838
FRRS1L 604574
GABBR2 607340
GABRA1 137160
GABRB1 137190
GABRB2 600232
GABRB3 137192
GABRG2 137164
GAMT 601240
GATM 602360
GDI1 300104
GFAP 137780
GLDC 238300
GM2A 613109
GNAO1 139311
GNB1 139380
GOSR2 604027
GPAA1 603048
GRIA3 305915
GRIN1 138249
GRIN2A 138253
GRIN2B 138252
GRIN2D 602717
GUF1 617064
HCN1 602780
HCN2 602781
HECW2 617245
HIVEP2 143054
HNRNPU 602869
IER3IP1 609382
IL1RAPL1 300206
IQSEC2 300522
ITPA 147520
KANSL1 612452
KCNA2 176262
KCNB1 600397
KCNC1 176258
KCNH1 603305
KCNJ1 600359
KCNJ10 602208
KCNJ6 600877
KCNMA1 600150
KCNQ2 602235
KCNQ3 602232
KCNT1 608167
KCTD7 611725
KDM5C 314690
KIF4B 609184
KPTN 615620
L1CAM 308840
LAMC3 604349
LGI1 604619
LMNB2 150341
MAGI2 606382
MBD5 611472
MBTPS2 300294
MDH2 154100
MECP2 300005
MED13L 608771
MED17 603810
MED25 610197
MEF2C 600662
METTL23 615262
MFSD8 611124
MID2 300204
MLC1 605908
MOCS1 603707
MTFMT 611766
MTOR 601231
MYO5A 160777
NAA10 300013
NACC1 610672
NAGA 104170
NAXE 608862
NDP 300658
NDST1 600853
NECAP1 611623
NEDD4L 606384
NEXMIF 300524
NF1 613113
NHLRC1 608072
NLGN4X 300427
NPRL2 607072
NPRL3 600928
NRXN1 600565
NSD1 606681
NSDHL 300275
NTRK2 600456
NUS1 610463
OCLN 602876
OCRL 300535
OPHN1 300127
OSBP 167040
OSGEP 610107
PACS1 607492
PACS2 610423
PAFAH1B1 601545
PAK3 300142
PCDH19 300460
PHGDH 606879
PIGA 311770
PIGG 616918
PIGL 605947
PIGM 610273
PIGN 606097
PIGO 614730
PIGP 605938
PIGT 610272
PIGV 610274
PIGW 610275
PIK3AP1 607942
PLAA 603873
PLCB1 607120
PLPBP 604436
PNKP 605610
PNPO 603287
POLG 174763
POMT1 607423
POMT2 607439
PPP2R1A 605983
PPP3CA 114105
PPT1 600722
PQBP1 300463
PRICKLE1 608500
PRMT7 610087
PRPS1 311850
PRRT2 614386
PSAT1 610936
PSPH 172480
PTEN 601728
PURA 600473
QARS 603727
RAB11A 605570
RAB39B 300774
RELN 600514
RHOBTB2 607352
RNF125 610432
RNF13 609247
ROGDI 614574
RORB 601972
RPL10 312173
RPS6KA3 300075
RRN3 605121
RTTN 610436
SCARB2 602257
SCN10A 604427
SCN1A 182389
SCN1B 600235
SCN2A 182390
SCN3A 182391
SCN8A 600702
SCN9A 603415
SETBP1 611060
SETD2 612778
SIN3A 607776
SLC12A1 600839
SLC12A3 600968
SLC12A5 606726
SLC13A5 608305
SLC17A5 604322
SLC19A3 606152
SLC1A2 600300
SLC25A12 603667
SLC25A22 609302
SLC2A1 138140
SLC35A2 314375
SLC6A1 137165
SLC6A8 300036
SLC9A6 300231
SMARCA2 600014
SMC1A 300040
SNAP25 600322
SNX14 616105
SON 182465
SPATA5 613940
SPTAN1 182810
SRPX2 300642
ST3GAL3 606494
ST3GAL5 604402
STRADA 608626
STX1B 601485
STXBP1 602926
STXBP5L 609381
SUOX 606887
SYN1 313440
SYNGAP1 603384
SYNJ1 604297
SZT2 615463
TBC1D23 617687
TBC1D24 613577
TBL1XR1 608628
TCF4 602272
TGDS 616146
TNK2 606994
TPP1 607998
TRAPPC6B 610397
TRAPPC9 611966
TREX1 606609
TRIO 601893
TSC1 605284
TSC2 191092
TUBA1A 602529
TUBA8 605742
TUBB2A 615101
TUBB2B 612850
TUBB3 602661
TUBG1 191135
UBA5 610552
UBE2A 312180
UBE3A 601623
UBTF 600673
VLDLR 192977
WAC 615049
WASF1 605035
WDR45 300526
WWOX 605131
YWHAG 605356
ZC4H2 300897
ZEB2 605802
ZNHIT3 604500
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Diseases

Name Inheritance OMIM ID
Adams-Oliver Syndrome 1 AD 100300
Adams-Oliver Syndrome 2 AR 614219
Adenylosuccinate Lyase Deficiency AR 103050
Adrenoleukodystrophy XL 300100
AGAT Deficiency AR 612718
Aicardi-Goutieres Syndrome 1 AD 225750
Alexander Disease AD 203450
Alternating Hemiplegia Of Childhood AD 104290
Alternating Hemiplegia of Childhood 2 AD 614820
Aminoacylase 1 Deficiency AR 609924
Amish Infantile Epilepsy Syndrome AR 609056
Amytrophic Lateral Sclerosis 23 AD 617839
Angelman Syndrome AD 105830
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps AD 611773
Arts Syndrome XL 301835
ATR-X Syndrome XL 301040
Autism, Susceptibility To, X-Linked 2 XL 300495
Band Heterotopia AR 600348
Bartter Syndrome Antenatal Type 1 AR 601678
Bartter Syndrome Antenatal Type 2 AR 241200
Basal Ganglia Disease, Biotin-Responsive AR 607483
Basel-Vanagait-Smirin-Yosef Syndrome AR 616449
Benign Familial Neonatal-Infantile Seizures AD 607745
Brain Small Vessel Disease With Hemorrhage AD 607595
Branched-chain ketoacid dehydrogenase kinase deficiency AR 614923
C Syndrome AD 211750
CAPOS syndrome AD 601338
Catel-Manzke Syndrome AR 616145
Cerebellar atrophy, developmental delay, and seizures AR 617643
Cerebral Creatine Deficiency Syndrome 1 XL 300352
Cerebral Folate Deficiency AR 613068
Ceroid Lipofuscinosis Neuronal 1 AR 256730
Ceroid Lipofuscinosis Neuronal 10 AR 610127
Ceroid Lipofuscinosis Neuronal 13 AR 615362
Ceroid Lipofuscinosis Neuronal 14 AR 611726
Ceroid Lipofuscinosis Neuronal 2 AR 204500
Ceroid Lipofuscinosis Neuronal 3 AR 204200
Ceroid Lipofuscinosis Neuronal 5 AR 256731
Ceroid Lipofuscinosis Neuronal 6 AR 601780
Ceroid Lipofuscinosis Neuronal 7 AR 610951
Ceroid Lipofuscinosis Neuronal 8 AR 600143
Ceroid Lipofuscinosis Neuronal 8, Northern Epilepsy Variant AR 610003
Child Syndrome XL 308050
CHIME syndrome AR 280000
CK syndrome XL 300831
Coffin-Lowry Syndrome XL 303600
Coffin-Siris Syndrome 1 AD 135900
Combined oxidative phosphorylation deficiency 14 AR 614946
Combined Oxidative Phosphorylation Deficiency 15 AR 614947
Combined Oxidative Phosphorylation Deficiency 27 AR 616672
Combined Oxidative Phosphorylation Deficiency 6 XL 300816
Congenital Disorder of Glycosylation Type IIm XL 300896
Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis AD 602066
Cornelia de Lange syndrome 2 XL 300590
Corpus Callosum, Partial Agenesis Of, X-Linked XL 304100
Cortical Dysplasia, Complex, With Other Brain Malformations AD 614039
Cortical Dysplasia, Complex, with other Brain Malformations 4 AD 615412
Cortical Dysplasia, Complex, with other Brain Malformations 5 AD 615763
Cortical Dysplasia-Focal Epilepsy Syndrome AR 610042
Cortical Malformations, Occipital AR 614115
Cowchock Syndrome XL 310490
Cowden Disease AD 158350
Deficiency Of Guanidinoacetate Methyltransferase AR 612736
Desanto-Shinawi syndrome AD 616708
Developmental Delay and Seizures with or without Movement Abnormalities AD 617836
DOOR syndrome AR 220500
Dyskinesia, Seizures, and Intellectual Developmental Disorder AR 617171
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations XL 300673
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy AR 617186
Epilepsy Juvenile Absence AD 607631
Epilepsy, Childhood Absence 2 AD 607681
Epilepsy, Childhood Absence 5 AD 612269
Epilepsy, Childhood Absence 6 611942
Epilepsy, Early-Onset, Vitamin B6-Dependent AR 617290
Epilepsy, familial focal, with variable foci AD 604364
Epilepsy, Familial Focal, with Variable Foci 2 AD 617116
Epilepsy, Familial Focal, with Variable Foci 3 AD 617118
Epilepsy, familial focal, with variable foci 4 AD 617935
Epilepsy, Familial Temporal Lobe, 5 AD 614417
Epilepsy, Familial Temporal Lobe, 7 AD 616436
Epilepsy, focal, with speech disorder and with or without mental retardation AD 245570
Epilepsy, Hearing Loss, and Mental Retardation Syndrome AR 616577
Epilepsy, Idiopathic Generalized 9 AD 607682
Epilepsy, Idiopathic Generalized, Susceptibility To, 11 AD 607628
Epilepsy, idiopathic generalized, susceptibility to, 14 AD 616685
Epilepsy, Juvenile Myoclonic 5 AR 611136
Epilepsy, Lateral Temporal Lobe, Autosomal Dominant AD 600512
Epilepsy, Myoclonic, Familial Adult, 5 AR 615400
Epilepsy, nocturnal frontal lobe, 5 AD 615005
Epilepsy, Nocturnal Frontal Lobe, Type 1 AD 600513
Epilepsy, Nocturnal Frontal Lobe, Type 3 AD 605375
Epilepsy, Nocturnal Frontal Lobe, Type 4 AD 610353
Epilepsy, Progressive Myoclonic 3 AR 611726
Epilepsy, Progressive Myoclonic 4, With Or Without Renal Failure AR 254900
Epilepsy, Progressive Myoclonic 6 AR 614018
Epilepsy, Progressive Myoclonic 7 AD 616187
Epilepsy, Progressive Myoclonic, 8 AR 616230
Epilepsy, Progressive Myoclonic, 9 AR 616540
Epilepsy, X-Linked, With Variable Learning Disabilities And Behavior Disorders XL 300491
Epileptic encephalopathy, childhood-onset AD 615369
Epileptic encephalopathy, early infantile, 1 XL 308350
Epileptic Encephalopathy, Early Infantile, 10 AR 613402
Epileptic Encephalopathy, Early Infantile, 11 AD 613721
Epileptic Encephalopathy, Early Infantile, 12 AR 613722
Epileptic Encephalopathy, Early Infantile, 13 AD 614558
Epileptic encephalopathy, early infantile, 14 AD 614959
Epileptic Encephalopathy, Early Infantile, 15 AR 615006
Epileptic Encephalopathy, Early Infantile, 16 AR 615338
Epileptic Encephalopathy, Early Infantile, 17 AD 615473
Epileptic encephalopathy, early infantile, 18 AR 615476
Epileptic Encephalopathy, Early Infantile, 19 AD 615744
Epileptic Encephalopathy, Early Infantile, 2 XL 300672
Epileptic Encephalopathy, Early Infantile, 21 AR 615833
Epileptic Encephalopathy, Early Infantile, 23 AR 615859
Epileptic Encephalopathy, Early Infantile, 24 AD 615871
Epileptic Encephalopathy, Early Infantile, 25 AR 615905
Epileptic Encephalopathy, Early Infantile, 26 AD 616056
Epileptic Encephalopathy, Early Infantile, 27 AD 616139
Epileptic Encephalopathy, Early Infantile, 28 AR 616211
Epileptic Encephalopathy, Early Infantile, 29 AR 616339
Epileptic Encephalopathy, Early Infantile, 3 AR 609304
Epileptic Encephalopathy, Early Infantile, 31 AD 616346
Epileptic Encephalopathy, Early Infantile, 32 AD 616366
Epileptic Encephalopathy, Early Infantile, 33 AD 616409
Epileptic Encephalopathy, Early Infantile, 34 AR 616645
Epileptic Encephalopathy, Early Infantile, 35 AR 616647
Epileptic Encephalopathy, Early Infantile, 36 XL 300884
Epileptic Encephalopathy, Early Infantile, 37 AR 616981
Epileptic Encephalopathy, Early Infantile, 38 AR 617020
Epileptic Encephalopathy, Early Infantile, 39 AR 612949
Epileptic Encephalopathy, Early Infantile, 4 AD 612164
Epileptic Encephalopathy, Early Infantile, 40 AR 617065
Epileptic Encephalopathy, Early Infantile, 41 AD 617105
Epileptic Encephalopathy, Early Infantile, 42 AD 617106
Epileptic Encephalopathy, Early Infantile, 43 AD 617113
Epileptic Encephalopathy, Early Infantile, 44 AR 617132
Epileptic Encephalopathy, Early Infantile, 45 AD 617153
Epileptic Encephalopathy, Early Infantile, 46 AD 617162
Epileptic Encephalopathy, Early Infantile, 47 AD 617166
Epileptic Encephalopathy, Early Infantile, 48 AR 617276
Epileptic Encephalopathy, Early Infantile, 49 AR 617281
Epileptic Encephalopathy, Early Infantile, 5 AD 613477
Epileptic Encephalopathy, Early Infantile, 50 AR 616457
Epileptic Encephalopathy, Early Infantile, 51 AR 617339
Epileptic encephalopathy, early infantile, 52 AR 617350
Epileptic Encephalopathy, Early Infantile, 53 AR 617389
Epileptic Encephalopathy, Early Infantile, 54 AD 617391
Epileptic Encephalopathy, Early Infantile, 55 AR 617599
Epileptic Encephalopathy, Early Infantile, 56 AD 617665
Epileptic Encephalopathy, Early Infantile, 58 AD 617830
Epileptic Encephalopathy, Early Infantile, 59 AD 617904
Epileptic encephalopathy, early infantile, 60 AR 617929
Epileptic encephalopathy, early infantile, 61 AR 617933
Epileptic Encephalopathy, Early Infantile, 62 AD 617938
Epileptic encephalopathy, early infantile, 63 AR 617976
Epileptic encephalopathy, early infantile, 64 AD 618004
Epileptic encephalopathy, early infantile, 65 AD 618008
Epileptic Encephalopathy, Early Infantile, 7 AD 613720
Epileptic encephalopathy, early infantile, 73 AD 618379
Epileptic Encephalopathy, Early Infantile, 8 XL 300607
Epileptic Encephalopathy, Early Infantile, 9 XL 300088
Epileptic Encephalopathy, Infantile or Early Childhood, 1 AD 617711
Epileptic Encephalopathy, Infantile or Early Childhood, 2 AD 617829
Episodic Pain Syndrome, Familial, 2 AD 615551
Familial Hemiplegic Migraine Type 2 AD 602481
Familial Hypokalemia-Hypomagnesemia AR 263800
Farber's Lipogranulomatosis AR 228000
Febrile seizures, familial, 11 AR 614418
Febrile Seizures, Familial, 4 AD 604352
FG Syndrome 2 XL 300321
FG Syndrome 4 XL 300422
Frontometaphyseal Dysplasia XL 305620
Fukuyama Congenital Muscular Dystrophy AR 253800
Galloway-Mowat Syndrome 3 AR 617729
Generalized Epilepsy And Paroxysmal Dyskinesia AD 609446
Generalized Epilepsy With Febrile Seizures Plus, Type 1 AD 604233
Generalized Epilepsy With Febrile Seizures Plus, Type 2 AD 604403
Generalized Epilepsy With Febrile Seizures Plus, Type 3 AD 611277
Generalized Epilepsy With Febrile Seizures Plus, Type 7 AD 613863
Generalized Epilepsy with Febrile Seizures Plus, Type 9 AD 616172
Glut1 Deficiency Syndrome 1 AD 606777
Glut1 Deficiency Syndrome 2 AD 612126
Glycine Encephalopathy AR 605899
Glycosylphosphatidylinositol biosynthesis defect 11 AR 616025
Glycosylphosphatidylinositol biosynthesis defect 15 AR 617810
Glycosylphosphatidylinositol Deficiency AR 610293
Griscelli Syndrome Type 1 AR 214450
Helsmoortel-van der Aa Syndrome AD 615873
Heterotopia, Periventricular, Autosomal Recessive AR 608097
Hyperphosphatasia With Mental Retardation AR 239300
Hyperphosphatasia with mental retardation syndrome 2 AR 614749
Ichthyosis Follicularis Atrichia Photophobia Syndrome XL 308205
Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities AR 617425
Intellectual developmental disorder with severe speech and ambulation defects AD 618470
Juvenile Myoclonic Epilepsy AD 254770
KBG Syndrome AD 148050
Keppen-Lubinsky syndrome AD 614098
Knobloch Syndrome 1 AR 267750
Kohlschutter-Tonz syndrome AR 226750
Koolen-De Vries Syndrome AD 610443
Lafora Disease AR 254780
Lissencephaly 1 AD 607432
Lissencephaly 2 AR 257320
Lissencephaly 3 AD 611603
Lowe Syndrome XL 309000
Luscan-Lumish Syndrome AD 616831
MECP2 Duplication Syndrome XL 300260
Megalencephalic Leukoencephalopathy With Subcortical Cysts AR 604004
MEND Syndrome XL 300960
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects AD 616789
Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia XL 300749
Mental Retardation, Autosomal Dominant 1 AD 156200
Mental Retardation, Autosomal dominant 19 AD 615075
Mental Retardation, Autosomal Dominant 24 AD 615828
Mental Retardation, Autosomal Dominant 29 AD 616078
Mental Retardation, Autosomal Dominant 31 AD 616158
Mental Retardation, Autosomal Dominant 36 AD 616362
Mental retardation, autosomal dominant 38 AD 616393
Mental Retardation, Autosomal Dominant 41 AD 616944
Mental Retardation, Autosomal Dominant 42 AD 616973
Mental Retardation, Autosomal Dominant 43 AD 616977
Mental Retardation, Autosomal Dominant 44 AD 617061
Mental retardation, autosomal dominant 45 AD 617600
Mental Retardation, Autosomal Dominant 5 AD 612621
Mental Retardation, Autosomal Dominant 55, with Seizures AD 617831
Mental Retardation, Autosomal Dominant 56 AD 617854
Mental Retardation, Autosomal Dominant 6 AD 613970
Mental Retardation, Autosomal Dominant 7 AD 614104
Mental Retardation, Autosomal Dominant 8 AD 614254
Mental Retardation, Autosomal Recessive 12 AR 611090
Mental Retardation, Autosomal Recessive 13 AR 613192
Mental Retardation, Autosomal Recessive 2 AR 607417
Mental retardation, autosomal recessive 41 AR 615637
Mental Retardation, Autosomal Recessive 44 AR 615942
Mental Retardation, Autosomal Recessive 46 AR 616116
Mental Retardation, Autosomal Recessive 47 AR 616193
Mental Retardation, Autosomal Recessive 53 AR 616917
Mental Retardation, Stereotypic Movements, Epilepsy, And/Or Cerebral Malformations AD 613443
Mental Retardation, X-Linked 1/78 XL 309530
Mental Retardation, X-linked 101 XL 300928
Mental Retardation, X-Linked 102 XL 300958
Mental Retardation, X-linked 104 XL 300983
Mental Retardation, X-Linked 19 XL 300844
Mental Retardation, X-Linked 21 XL 300143
Mental Retardation, X-Linked 30 XL 300558
Mental Retardation, X-Linked 41 XL 300849
Mental Retardation, X-linked 49 XL 300114
Mental Retardation, X-Linked 72 XL 300271
Mental Retardation, X-Linked 90 XL 300850
Mental Retardation, X-linked 98 XL 300912
Mental Retardation, X-Linked, Syndromic 13 XL 300055
Mental Retardation, X-linked, Syndromic 32 XL 300886
Mental Retardation, X-linked, Syndromic, 35 XL 300998
Mental Retardation, X-Linked, Syndromic, Christianson Type XL 300243
Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type XL 300534
Mental Retardation, X-Linked, Syndromic, Hedera Type XL 300423
Mental Retardation, X-Linked, Syndromic, Nascimento Type XL 300860
Mental Retardation, X-Linked, Syndromic, Wu Type XL 300699
Mental Retardation, X-Linked, With Short Stature, Hypogonadism, And Abnormal Gait XL 300354
Mental Retardation-Hypotonic Facies Syndrome X-Linked, 1 XL 309580
Microcephaly, Epilepsy, And Diabetes Syndrome AR 614231
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy AR 613668
Microcephaly, Progressive, Seizures, and Cerebral and Cerebellar Atrophy AR 615760
Microcephaly, short stature, and polymicrogyria with seizures AR 614833
Mitochondrial DNA Depletion Syndrome 4B, Mngie Type AR 613662
Molybdenum Cofactor Deficiency Type A AR 252150
Mowat-Wilson Syndrome AD 235730
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome AR 614080
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 XL 300868
Multiple congenital anomalies-hypotonia-seizures syndrome 3 AR 615398
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 AR 613150
Myasthenic Syndrome, Congenital, 18 AD 616330
Myoclonic Epilepsy, Familial Infantile AR 605021
Myoclonic-Atonic Epilepsy AD 616421
Nephrotic Syndrome, Type 15 AR 617609
Neu-Laxova syndrome 1 AR 256520
Neu-Laxova syndrome 2 AR 616038
Neurodegeneration With Brain Iron Accumulation 5 XL 300894
Neurodegeneration, childhood-onset, with brain atrophy AD 617672
Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination AD 617393
Neurodevelopmental Disorder with Hypotonia, Seizures, and Absent Language AD 617268
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Brain Atrophy AR 617862
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive AR 617820
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies AR 617527
Neurofibromatosis, Type 1 AD 162200
Nicolaides-Baraitser Syndrome AD 601358
Norrie Disease XL 310600
Oculofaciocardiodental Syndrome XL 300166
Ogden Syndrome XL 300855
PEHO syndrome AR 260565
PEHO syndrome-like AR 617507
Periventricular Nodular Heterotopia 7 AD 617201
Pettigrew Syndrome XL 304340
Phosphoglycerate Dehydrogenase Deficiency AR 601815
Phosphoserine Aminotransferase Deficiency AR 610992
Phosphoserine Phosphatase Deficiency AR 614023
Pitt-Hopkins Syndrome AD 610954
Pitt-Hopkins-like syndrome 2 AR 614325
Polyendocrine-polyneuropathy syndrome AR 616113
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy AR 611087
Polymicrogyria With Optic Nerve Hypoplasia AR 613180
Polymicrogyria, Asymmetric AD 610031
Polymicrogyria, Bilateral Frontoparietal AR 606854
Polymicrogyria, bilateral perisylvian AR 615752
Pontocerebellar Hypoplasia Type 11 AR 617695
Porencephaly 1 AD 175780
Porencephaly 2 AD 614483
Primary Aldosteronism, Seizures, and Neurologic Abnormalities AD 615474
Progressive Myoclonus Epilepsy With Ataxia AR 612437
Progressive Sclerosing Poliodystrophy AR 203700
Pseudo-TORCH Syndrome 1 AR 251290
Pyridoxal 5'-Phosphate-Dependent Epilepsy AR 610090
Pyridoxine-Dependent Epilepsy AR 266100
Renpenning Syndrome 1 XL 309500
Rett Syndrome XL 312750
Rett Syndrome, Congenital Variant AD 613454
Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal AR 614498
Rolandic Epilepsy, Mental Retardation, And Speech Dyspraxia, X-Linked XL 300643
Salla Disease AR 604369
Schindler Disease, Type 1 AR 609241
Schizencephaly 269160
Schuurs-Hoeijmakers Syndrome AD 615009
Seizures, Benign Familial Infantile, 2 AD 605751
Seizures, benign familial infantile, 5 AD 617080
Seizures, Benign Familial Neonatal, 2 AD 121201
Seizures, scoliosis, and macrocephaly syndrome AR 616682
SeSAME Syndrome AR 612780
Severe Myoclonic Epilepsy In Infancy AD 607208
Shashi-Pena syndrome AD 617190
Short stature, brachydactyly, intellectual developmental disability, and seizures AR 617157
Sialic Acid Storage Disease, Severe Infantile Type AR 269920
Smith-Kingsmore Syndrome AD 616638
Smith-Lemli-Opitz Syndrome AR 270400
Sotos' Syndrome AD 117550
Spinocerebellar Ataxia, Autosomal Recessive 20 AR 616354
Sulfite Oxidase Deficiency AR 272300
Tatton-Brown-Rahman Syndrome AD 615879
Tay-Sachs disease AB Variant AR 272750
Temple-Baraitser Syndrome AD 611816
Temtamy Syndrome AR 218340
Tenorio Syndrome AD 616260
Timothy Syndrome AD 601005
Tuberous Sclerosis 1 AD 191100
Tuberous Sclerosis 2 AD 613254
Unverricht-Lundborg Syndrome AR 254800
Vici Syndrome AR 242840
VLDLR-Associated Cerebellar Hypoplasia AR 224050
Walker-Warburg Congenital Muscular Dystrophy AR 236670
Wieacker-Wolff Syndrome XL 314580
Witteveen-Kolk Syndrome AD 613406
X-Linked Lissencephaly XL 300067
X-Linked Periventricular Heterotopia XL 300049
X-LinkedMental Retardation With Cerebellar Hypoplasia And Distinctive Facial Appearance XL 300486
Zimmermann-Laband Syndrome 1 AD 135500
ZTTK Syndrome AD 617140

Related Test

Name
PGxome®

Citations

  • Allen et al. 2013. PubMed ID: 23934111
  • Bagci et al. 2007. PubMed ID: 18296573
  • Baldassari et al. 2016. PubMed ID: 27208208
  • Bennett et al. 2009. PubMed ID: 19128417
  • Bodamer et al. 2009. PubMed ID: 19255414
  • Boerma et al 2016. PubMed ID: 26252990
  • Carvill et al 2014 PubMed ID: 24623842
  • Chou et al 2014. PubMed ID: 25520928
  • Darin et al 2016. PubMed ID: 27912044
  • de Kovel et al. 2016 PubMed ID: 27652284
  • Della Mina et al. 2015. PubMed ID: 24848745
  • Dibbens et al. 2013. PubMed ID: 23542697
  • Dilena et al 2016. PubMed ID: 26212315
  • Fisher et al. 2017. PubMed ID: 28276064
  • Hamdan et al. 2017. PubMed ID: 29100083
  • Hildebrand et al. 2016. PubMed ID: 27029629
  • Hynynen et al 2014. PubMed ID: 25065347
  • Koch et al. 2017. PubMed ID: 28007989
  • Kurahashi and Hirose 2015. PubMed ID: 20301348
  • Leen et al. 2010. PubMed ID: 20129935
  • Lemke et al. 2012. PubMed ID: 22612257
  • Li et al. 2016. PubMed ID: 27616483
  • Mikati et al 2015. PubMed ID: 26369628
  • Miller and Sotero de Menezes 2007. PubMed ID: 20301494
  • Myers and Scheffer. 2017. PubMed ID: 28406046
  • Møller et al. 2016. PubMed ID: 27781031
  • Oyarzabal et al. 2016 PubMed ID: 26809120
  • Palavra et al 2017. PubMed ID: 28386314
  • Picard et al. 2014. PubMed ID: 24814846
  • Pierson et al 2014. PubMed ID: 24839611
  • Platzer et al 2017. PubMed ID: 28377535
  • Ream and Mikati 2014. PubMed ID: 25108116
  • Ricos et al. 2016 PubMed ID: 26505888
  • Sands et al. 2016. PubMed ID: 27888506
  • Scheffer et al. 2017. PubMed ID: 28276062
  • Sharma and Prasad. 2013. PubMed ID: 23250121
  • Steinfeld et al. 2009. PubMed ID: 19732866
  • Tabarki et al. 2017. PubMed ID: 23269594
  • Trivisano et al 2015. PubMed ID: 25510386
  • von Spiczak et al. PubMed ID: 28667181
  • Wang Jet al. 2014. PubMed ID: 24818677
  • Wilfert et al. 2017. PubMed ID: 29179772
  • Wilmshurst et al. 2015. PubMed ID: 26122601
  • Wolff et al 2017. PubMed ID: 28379373

Ordering/Specimens

Ordering Options

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page


Specimen Types

Specimen Requirements and Shipping Details

loading Loading... ×

Copy Text to Clipboard
×