Comprehensive Brain Malformation Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
12619 ACTB 81479,81479 Order Options and Pricing
ACTG1 81479,81479
ACTL6B 81479,81479
ADAR 81479,81479
ADGRG1 81479,81479
AHDC1 81479,81479
AHI1 81407,81479
AKT3 81479,81479
AMPD2 81479,81479
ANKLE2 81479,81479
AP4M1 81479,81479
APC2 81479,81479
ARFGEF2 81479,81479
ARHGAP31 81479,81479
ARID1A 81479,81479
ARID1B 81479,81479
ARL13B 81479,81479
ARL3 81479,81479
ARMC9 81479,81479
ARX 81404,81403
ASPM 81407,81479
ATP1A2 81406,81479
ATP6V0A2 81479,81479
ATR 81479,81479
AUTS2 81479,81479
B3GALNT2 81479,81479
B4GAT1 81479,81479
B9D1 81479,81479
B9D2 81479,81479
BCL11A 81479,81479
C2CD3 81479,81479
CASK 81479,81479
CC2D2A 81479,81479
CCND2 81479,81479
CDK5 81479,81479
CDK5RAP2 81479,81479
CDON 81479,81479
CENPF 81479,81479
CENPJ 81479,81479
CEP104 81479,81479
CEP120 81479,81479
CEP135 81479,81479
CEP152 81479,81479
CEP290 81408,81479
CEP41 81479,81479
CEP85L 81479,81479
CHMP1A 81479,81479
CIT 81479,81479
CLP1 81479,81479
CNTNAP2 81406,81479
COASY 81479,81479
COL18A1 81479,81479
COL4A1 81408,81479
COL4A2 81479,81479
COLGALT1 81479,81479
CPLANE1 81479,81479
CRADD 81479,81479
CREBBP 81407,81406
CRPPA 81405,81479
CSF1R 81479,81479
CSPP1 81479,81479
CTNNA2 81479,81479
CTNNB1 81479,81479
CUL4B 81479,81479
DAG1 81479,81479
DCHS1 81479,81479
DCX 81405,81479
DDX3X 81479,81479
DHCR7 81405,81479
DIAPH1 81479,81479
DISP1 81479,81479
DKC1 81479,81479
DLL1 81479,81479
DOCK6 81479,81479
DYNC1H1 81479,81479
EML1 81479,81479
EMX2 81479,81479
EOMES 81479,81479
ERMARD 81479,81479
EXOSC3 81479,81479
EXOSC8 81479,81479
EXOSC9 81479,81479
FAT4 81479,81479
FGF8 81479,81479
FGFR1 81405,81479
FH 81479,81479
FKRP 81404,81479
FKTN 81405,81479
FLNA 81479,81479
FLVCR2 81479,81479
FOXG1 81404,81479
FOXH1 81479,81479
FOXP1 81479,81479
GAS1 81479,81479
GFM1 81479,81479
GLI2 81479,81479
GMPPB 81479,81479
GPSM2 81479,81479
GSX2 81479,81479
IER3IP1 81479,81479
IFT172 81479,81479
INPP5E 81479,81479
JAM3 81479,81479
KATNB1 81479,81479
KATNIP 81479,81479
KCNMA1 81479,81479
KIAA0586 81479,81479
KIAA1109 81479,81479
KIF11 81479,81479
KIF14 81479,81479
KIF2A 81479,81479
KIF4A 81479,81479
KIF5C 81479,81479
KIF7 81479,81479
KIFBP 81479,81479
KNL1 81479,81479
L1CAM 81407,81479
LAGE3 81479,81479
LAMA2 81408,81479
LAMB1 81479,81479
LAMC3 81479,81479
LARGE1 81479,81479
LNPK 81479,81479
LRP2 81479,81479
MACF1 81479,81479
MAP1B 81479,81479
MAPK8IP3 81479,81479
MAST1 81479,81479
MCPH1 81479,81479
MED12 81479,81479
MED17 81479,81479
MEF2C 81479,81479
MFSD2A 81479,81479
MKS1 81479,81479
MTOR 81479,81479
NCAPD3 81479,81479
NDE1 81479,81479
NEDD4L 81479,81479
NFIB 81479,81479
NODAL 81479,81479
NPHP1 81406,81405
NPHP3 81479,81479
NSDHL 81479,81479
OCLN 81479,81479
OFD1 81479,81479
OPHN1 81479,81479
PAFAH1B1 81406,81405
PAX6 81479,81479
PCLO 81479,81479
PDE6D 81479,81479
PDGFRB 81479,81479
PHGDH 81479,81479
PI4KA 81479,81479
PIBF1 81479,81479
PIK3R2 81479,81479
PLK4 81479,81479
PMM2 81479,81479
PNKP 81479,81479
POMGNT1 81406,81479
POMGNT2 81479,81479
POMK 81479,81479
POMT1 81406,81479
POMT2 81406,81479
PPP1CB 81479,81479
PQBP1 81405,81404
PSAT1 81479,81479
PTCH1 81479,81479
PTEN 81321,81323
PUS3 81479,81479
RAB11B 81479,81479
RAB18 81479,81479
RAB3GAP1 81479,81479
RAB3GAP2 81479,81479
RARS2 81479,81479
RBBP8 81479,81479
RELN 81479,81479
RNASEH2A 81479,81479
RNASEH2B 81479,81479
RNASEH2C 81479,81479
RPGRIP1L 81479,81479
RTTN 81479,81479
RXYLT1 81479,81479
SAMHD1 81479,81479
SCN3A 81479,81479
SEPSECS 81479,81479
SETD2 81479,81479
SHH 81479,81479
SIX3 81479,81479
SLC12A6 81479,81479
SLC1A4 81479,81479
SLC25A19 81479,81479
SLC25A46 81479,81479
SMARCA4 81479,81479
SMARCB1 81479,81479
SMARCE1 81479,81479
SNAP29 81479,81479
SON 81479,81479
SPTAN1 81479,81479
SRD5A3 81479,81479
SRPX2 81479,81479
STAMBP 81479,81479
STIL 81479,81479
STXBP1 81406,81479
SUFU 81479,81479
TBC1D20 81479,81479
TBC1D23 81479,81479
TBR1 81479,81479
TCF4 81406,81405
TCTN1 81479,81479
TCTN2 81479,81479
TCTN3 81479,81479
TDGF1 81479,81479
TGIF1 81479,81479
TMEM107 81479,81479
TMEM138 81479,81479
TMEM216 81479,81479
TMEM231 81479,81479
TMEM237 81479,81479
TMEM67 81407,81479
TMTC3 81479,81479
TMX2 81479,81479
TOE1 81479,81479
TRAPPC9 81479,81479
TREX1 81479,81479
TSC1 81406,81405
TSC2 81407,81406
TSEN15 81479,81479
TSEN2 81479,81479
TSEN34 81479,81479
TSEN54 81479,81479
TTC21B 81479,81479
TUBA1A 81479,81479
TUBA8 81479,81479
TUBB 81479,81479
TUBB2A 81479,81479
TUBB2B 81479,81479
TUBB3 81479,81479
TUBB4A 81479,81479
TUBG1 81479,81479
TUBGCP2 81479,81479
TUBGCP4 81479,81479
TUBGCP6 81479,81479
TXNDC15 81479,81479
USP18 81479,81479
VLDLR 81479,81479
VPS13B 81408,81407
VPS51 81479,81479
VPS53 81479,81479
VRK1 81479,81479
WDR37 81479,81479
WDR62 81407,81479
WDR73 81479,81479
ZBTB20 81479,81479
ZEB2 81405,81404
ZIC2 81479,81479
ZNF335 81479,81479
ZNF423 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
12619Genes x (257)81479 81321, 81323, 81403, 81404, 81405, 81406, 81407, 81408, 81479 $1490 Order Options and Pricing

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.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

For Reflex to PGxome pricing click here.

Turnaround Time

18 days on average for standard orders or 14 days on average for STAT orders.

Once a specimen has started the testing process in our lab, the most accurate prediction of TAT will be displayed in the myPrevent portal as an Estimated Report Date (ERD) range. We calculate the ERD for each specimen as testing progresses; therefore the ERD range may differ from our published average TAT. View more about turnaround times here.

Targeted Testing

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

EMAIL CONTACTS

Genetic Counselors

Geneticist

Clinical Features and Genetics

Clinical Features

Brain malformation is a group of complex conditions influenced by both genetic and environmental factors. About 3% of newborns have major central nervous system or systemic malformations (Knupp and Parsons. 2009). This comprehensive panel covers a broad spectrum of brain malformations including tubulinopathies, cortical dysplasia, cortical malformations, periventricular heterotopia, lissencephaly, polymicrogyria, pontocerebellar hypoplasia, muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies, brain small vessel disease, Joubert and Meckel syndrome, holoprosencephaly, and many syndromic and non-syndromic disorders. Most brain malformations have onset before birth. These malformations usually lead to severe intellectual disability and early onset seizures or infantile spasms. Other minor features may include facial diplegia and strabismus, optic nerve hypoplasia and congenital fibrosis of the extraocular muscles, and more (Brock et al. 2018. PubMed ID: 29706637; Poirier et al. 2013. PubMed ID: 23603762; Di Donato et al. 2018. PubMed ID: 29671837; Romaniello et al. 2017. PubMed ID: 28677066).

Outside of DNA testing, brain imaging techniques such as CT and MRI are the most powerful tools for diagnosis of brain malformations. For example, in the case of tubulinopathies, MRI shows pachygyric cortex with posterior to anterior gradient, enlarged lateral ventricles, and variable degrees of reduced white matter volume (Brock et al. 2018. PubMed ID: 29706637; Poirier et al. 2013. PubMed ID: 23603762; Romaniello et al. 2017. PubMed ID: 28677066). In defects of neuronal migration, MRI reveals diffuse periventricular heterotopia, thin corpus callosum, and cortical and hippocampal atrophy (Sheen et al. 2004. PubMed ID: 14647276; Tanyalçin et al. 2013. PubMed ID: 23755938).

As brain malformations can be caused by defect in many genes with variable and overlapping presentations, they can be difficult to diagnose by clinical manifestation and image study only. Therefore, an accurate molecular diagnosis become critical for treatment, prognosis, prediction of recurrence risk, as well as future family planning.

Genetics

The genetic etiology of brain malformations is extremely heterogeneous, ranging from monogenic causes with little or no influence from modifiers or environmental factors to genetically complex forms. This panel includes genes which are involved in various well documented monogenic brain malformations, as well as many newly-discovered genes (Bahi-Buisson and Cavallin et al. 2016. PubMed ID: 27010057; Spalice et al. 2009. PubMed ID: 19120042; Lange et al. 2015. PubMed ID: 26471271; Barak et al. 2011. PubMed ID: 21572413; Bouchet et al. 2007. PubMed ID: 17559086; Di Donato et al. 2018. PubMed ID: 29671837; Rall et al. 2018. PubMed ID: 29024830). Following are brief descriptions of these genes and the disorders involved. See individual gene test descriptions for information on molecular biology of gene products and spectra of pathogenic variants.

Cortical dysplasia complex due to defects in structural protein tubulin, actin regulation, neuronal migration microtubule proteins or others (TUBB2A, TUBB2B, TUBB3, TUBB, TUBG1,TUBA8, TUBA1A, CTNNA2, KIF2A, KIF5C, DYNC1H1, CUL4B).

Heterotopia due to defects in neuronal migration and neurogenesis (ARFGEF2, FLNA, NEDD4L, DCHS1, FAT4, ERMARD).

Brain small vessel disease due to defect in collagen structure (COL4A1, COL4A2).

Lissencephaly due to defect in Reelin signaling, structural protein tubulin, doublecortin, Katanin, microtubule-actin cross-linking factor, extracellular matrix laminin, platelet-activating factor acetylhydrolase, mitosis related protein, Aristaless-related homeobox protein or others (RELN, TUBA1A, DCX, KATNB1, MACF1, LAMB1, PAFAH1B1, NDE1, ARX, TMTC3, CRADD).

Baraitser-Winter syndrome due to defect in actin cytoskeleton (ACTB, ACTG1).

Cortical malformations due to defect in epithelial structure laminin (LAMC3).

Cerebellar hypoplasia due to defect in Reelin signaling, calcium/calmodulin- dependent serine protein kinase or others (VLDLR, CASK, DYNC1H1, MAST1).

Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (PIK3R2, AKT3, CCND2).

Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies (B3GALNT2, B4GAT1, CRPPA/ISPD, FKRP, FKTN, GMPPB, LARGE1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, RXYLT1).

Pontocerebellar hypoplasia (AMPD2, CHMP1A, CLP1, EXOSC3, RARS2, SEPSECS, TSEN15, TSEN2, TSEN34, TSEN54, VRK1).

Microcephaly with brain malformation (ASPM, CIT, EOMES, IER3IP1, MCPH1, NFIB, RTTN, WDR62).

Intellectual disability with brain malformation (ACTL6B, DDX3X, MEF2C, OPHN1, SRPX2).

Warburg micro syndrome (RAB18, RAB3GAP1, RAB3GAP2, TBC1D20).

Galloway-Mowat syndrome (LAGE3, WDR73).

Other disorders with brain malformations (L1CAM, ADGRG1, EMX2).

Other syndromes which cause brain malformation or abnormalities (ATP1A2, ATP6V0A2, COL18A1, FH, GPSM2, KIF7, KIFBP, LAMA2, LRP2, MAP1B, MED12, MTOR, NSDHL, OCLN, OFD1, PAX6, PQBP1, SCN3A, SNAP29, SRD5A3, TSC1, TSC2, TUBB4A, ZBTB20, ZIC2).

Brain malformation can be inherited in autosomal dominant, autosomal recessive or X-linked manner or through complex inheritance. The vast majority of pathogenic variants in genes involving tubulinopathies occurr de novo (Bahi-Buisson and Cavallin et al. 2016. PubMed ID: 27010057; Rodan et al. 2017. PubMed ID: 27770045). Germline mosaicism has been seen in a patient with tubulinopathies (Brock et al. 2018. PubMed ID: 29706637).

Clinical Sensitivity - Sequencing with CNV PGxome

Brain malformations are clinically and genetically heterogeneous. The sensitivity is variable depending on different disorders. For example, in analysis of FLNA in 120 patients with classical bilateral periventricular nodular heterotopia and periventricular heterotopia, the authors detected pathogenic variants in 40 patients (Parrini et al. 2006. PubMed ID: 16684786). In a study of the fetal form of type II lissencephaly, 22 out of 41 unrelated families had positive results in genes causative for muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies (Bouchet et al. 2007. PubMed ID: 17559086). In a study of lissencephaly, analysis of 17 genes (ACTB, ACTG1, ARX, CRADD, DCX, LIS1, TUBA1A, TUBA8, TUBB2B, TUBB, TUBB3, TUBG1, KIF2A, KIF5C, DYNC1H1, RELN, and VLDLR) reached a detection rate of 81% (Di Donato et al. 2018. PubMed ID: 29671837). 

 

Testing Strategy

This test is performed using Next-Gen sequencing with additional Sanger sequencing as necessary.

This panel typically provides 98.9% 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).

Indications for Test

This panel is recommended for patients suspected to have tubulinopathies, cortical dysplasia, cortical malformations, periventricular heterotopia, lissencephaly, polymicrogyria, cerebellar hypoplasia, pontocerebellar hypoplasia, muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies, megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, Baraitser-Winter syndrome,  brain small vessel disease, Joubert and Meckel syndrome, holoprosencephaly and many other brain malformations.

Genes

Official Gene Symbol OMIM ID
ACTB 102630
ACTG1 102560
ACTL6B 612458
ADAR 146920
ADGRG1 604110
AHDC1 615790
AHI1 608894
AKT3 611223
AMPD2 102771
ANKLE2 616062
AP4M1 602296
APC2 612034
ARFGEF2 605371
ARHGAP31 610911
ARID1A 603024
ARID1B 614556
ARL13B 608922
ARL3 604695
ARMC9 617612
ARX 300382
ASPM 605481
ATP1A2 182340
ATP6V0A2 611716
ATR 601215
AUTS2 607270
B3GALNT2 610194
B4GAT1 605517
B9D1 614144
B9D2 611951
BCL11A 606557
C2CD3 615944
CASK 300172
CC2D2A 612013
CCND2 123833
CDK5 123831
CDK5RAP2 608201
CDON 608707
CENPF 600236
CENPJ 609279
CEP104 616690
CEP120 613446
CEP135 611423
CEP152 613529
CEP290 610142
CEP41 610523
CEP85L 618865
CHMP1A 164010
CIT 605629
CLP1 608757
CNTNAP2 604569
COASY 609855
COL18A1 120328
COL4A1 120130
COL4A2 120090
COLGALT1 617531
CPLANE1 614571
CRADD 603454
CREBBP 600140
CRPPA 614631
CSF1R 164770
CSPP1 611654
CTNNA2 114025
CTNNB1 116806
CUL4B 300304
DAG1 128239
DCHS1 603057
DCX 300121
DDX3X 300160
DHCR7 602858
DIAPH1 602121
DISP1 607502
DKC1 300126
DLL1 606582
DOCK6 614194
DYNC1H1 600112
EML1 602033
EMX2 600035
EOMES 604615
ERMARD 615532
EXOSC3 606489
EXOSC8 606019
EXOSC9 606180
FAT4 612411
FGF8 600483
FGFR1 136350
FH 136850
FKRP 606596
FKTN 607440
FLNA 300017
FLVCR2 610865
FOXG1 164874
FOXH1 603621
FOXP1 605515
GAS1 139185
GFM1 606639
GLI2 165230
GMPPB 615320
GPSM2 609245
GSX2 0
IER3IP1 609382
IFT172 607386
INPP5E 613037
JAM3 606871
KATNB1 602703
KATNIP 616650
KCNMA1 600150
KIAA0586 610178
KIAA1109 611565
KIF11 148760
KIF14 611279
KIF2A 602591
KIF4A 300521
KIF5C 604593
KIF7 611254
KIFBP 609367
KNL1 609173
L1CAM 308840
LAGE3 300060
LAMA2 156225
LAMB1 150240
LAMC3 604349
LARGE1 603590
LNPK 610236
LRP2 600073
MACF1 608271
MAP1B 157129
MAPK8IP3 605431
MAST1 612256
MCPH1 607117
MED12 300188
MED17 603810
MEF2C 600662
MFSD2A 614397
MKS1 609883
MTOR 601231
NCAPD3 609276
NDE1 609449
NEDD4L 606384
NFIB 600728
NODAL 601265
NPHP1 607100
NPHP3 608002
NSDHL 300275
OCLN 602876
OFD1 300170
OPHN1 300127
PAFAH1B1 601545
PAX6 607108
PCLO 604918
PDE6D 602676
PDGFRB 173410
PHGDH 606879
PI4KA 600286
PIBF1 607532
PIK3R2 603157
PLK4 605031
PMM2 601785
PNKP 605610
POMGNT1 606822
POMGNT2 614828
POMK 615247
POMT1 607423
POMT2 607439
PPP1CB 600590
PQBP1 300463
PSAT1 610936
PTCH1 601309
PTEN 601728
PUS3 616283
RAB11B 604198
RAB18 602207
RAB3GAP1 602536
RAB3GAP2 609275
RARS2 611524
RBBP8 604124
RELN 600514
RNASEH2A 606034
RNASEH2B 610326
RNASEH2C 610330
RPGRIP1L 610937
RTTN 610436
RXYLT1 605862
SAMHD1 606754
SCN3A 182391
SEPSECS 613009
SETD2 612778
SHH 600725
SIX3 603714
SLC12A6 604878
SLC1A4 600229
SLC25A19 606521
SLC25A46 610826
SMARCA4 603254
SMARCB1 601607
SMARCE1 603111
SNAP29 604202
SON 182465
SPTAN1 182810
SRD5A3 611715
SRPX2 300642
STAMBP 606247
STIL 181590
STXBP1 602926
SUFU 607035
TBC1D20 611663
TBC1D23 617687
TBR1 604616
TCF4 602272
TCTN1 609863
TCTN2 613846
TCTN3 613847
TDGF1 187395
TGIF1 602630
TMEM107 616183
TMEM138 614459
TMEM216 613277
TMEM231 614949
TMEM237 614423
TMEM67 609884
TMTC3 617218
TMX2 616715
TOE1 613931
TRAPPC9 611966
TREX1 606609
TSC1 605284
TSC2 191092
TSEN15 608756
TSEN2 608753
TSEN34 608754
TSEN54 608755
TTC21B 612014
TUBA1A 602529
TUBA8 605742
TUBB 191130
TUBB2A 615101
TUBB2B 612850
TUBB3 602661
TUBB4A 602662
TUBG1 191135
TUBGCP2 617817
TUBGCP4 609610
TUBGCP6 610053
TXNDC15 617778
USP18 607057
VLDLR 192977
VPS13B 607817
VPS51 615738
VPS53 615850
VRK1 602168
WDR37 618586
WDR62 613583
WDR73 616144
ZBTB20 606025
ZEB2 605802
ZIC2 603073
ZNF335 610827
ZNF423 604557
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Diseases

Name Inheritance OMIM ID
Acrocallosal Syndrome, Schinzel Type AR 200990
Adams-Oliver Syndrome 1 AD 100300
Adams-Oliver Syndrome 2 AR 614219
Aicardi-Goutieres Syndrome 1 AR 225750
Aicardi-Goutieres Syndrome 2 AR 610181
Aicardi-Goutieres Syndrome 3 AR 610329
Aicardi-Goutieres Syndrome 4 AR 610333
Aicardi-Goutieres Syndrome 5 AR 612952
Aicardi-Goutieres Syndrome 6 AR 615010
Al-Gazali-Bakalinova syndrome AR 607131
Alkuraya-Kucinskas syndrome AR 617822
Alternating Hemiplegia Of Childhood AD 104290
Amish Lethal Microcephaly AR 607196
Andermann Syndrome AR 218000
Ataxia-oculomotor apraxia 4 AR 616267
Band Heterotopia AR 600348
Baraitser-Winter Syndrome 1 AD 243310
Baraitser-Winter Syndrome 2 AD 614583
Bardet-Biedl Syndrome 13 AR 615990
Basal Ganglia Calcification, Idiopathic, 4 AD 615007
Brain abnormalities, neurodegeneration, and dysosteosclerosis AR 618476
Brain small vessel disease 3 AR 618360
Cerebellar atrophy, developmental delay, and seizures AR 617643
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome AR 609528
Child Syndrome XL 308050
Chudley-McCullough syndrome AR 604213
CK syndrome XL 300831
COACH Syndrome AR 216360
Coffin-Siris Syndrome 1 AD 135900
Coffin-Siris Syndrome 2 AD 614607
Coffin-Siris Syndrome 3 AD 614608
Coffin-Siris Syndrome 4 AD 614609
Coffin-Siris Syndrome 5 AD 616938
Cohen Syndrome AR 216550
Combined Oxidative Phosphorylation Deficiency 1 AR 609060
Congenital Aniridia AD 106210
Congenital Disorder Of Glycosylation Type 1A AR 212065
Congenital Disorder Of Glycosylation Type 1Q AR 612379
Congenital Muscular Dystrophy-Dystroglycanopathy (With Brain And Eye Anomalies) Type A5 AR 613153
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 10 AR 618677
Cortical dysplasia, complex, with other brain malformations 2 AD 615282
Cortical dysplasia, complex, with other brain malformations 3 AD 615411
Cortical Dysplasia, Complex, with other Brain Malformations 4 AD 615412
Cortical Dysplasia, Complex, with other Brain Malformations 5 AD 615763
Cortical dysplasia, complex, with other brain malformations 6 AD 615771
Cortical dysplasia, complex, with other brain malformations 9 AR 618174
Cortical Dysplasia-Focal Epilepsy Syndrome AR 610042
Cortical Malformations, Occipital AR 614115
Cowden Disease AD 158350
Culler-Jones Syndrome AD 615849
Cutis Laxa, Autosomal Recessive, Type IIA AR 219200
Developmental and Epileptic Encephalopathy 4 AD 612164
Dias-Logan Syndrome AD 617101
Diencephalic-mesencephalic junction dysplasia syndrome 2 AR 618646
Donnai Barrow Syndrome AR 222448
Dyskeratosis Congenita X-Linked XL 305000
Epilepsy, familial focal, with variable foci 4 AD 617935
Epileptic Encephalopathy, Early Infantile, 10 AR 613402
Epileptic Encephalopathy, Early Infantile, 5 AD 613477
Epileptic Encephalopathy, Early Infantile, 62 AD 617938
Epileptic encephalopathy, early infantile, 76 618468
Familial Hemiplegic Migraine Type 2 AD 602481
Fg Syndrome XL 305450
FG Syndrome 2 XL 300321
FG Syndrome 4 300422
Fukuyama Congenital Muscular Dystrophy AR 253800
Fumarase Deficiency AR 606812
Galloway-Mowat Syndrome AR 251300
Galloway-Mowat Syndrome 2, X-linked XL 301006
Goldberg-Shprintzen Megacolon Syndrome AR 609460
Hartsfield syndrome AD 615465
Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts AR 613730
Heterotaxy, Visceral, 5 AD 270100
Heterotopia, Periventricular, Autosomal Recessive AR 608097
Holoprosencephaly 11 AD 614226
Holoprosencephaly 2 AD 157170
Holoprosencephaly 3 AD 142945
Holoprosencephaly 4 AD 142946
Holoprosencephaly 5 AD 609637
Holoprosencephaly 7 AD 610828
Holoprosencephaly 9 AD 610829
Hydrolethalus Syndrome 2 AR 614120
Intellectual developmental disorder with autism and speech delay AD 606053
Intellectual developmental disorder with severe speech and ambulation defects AD 618470
Jawad syndrome AR 251255
Joubert Syndrome AR 614615
Joubert Syndrome 1 AR 213300
Joubert Syndrome 10 XL 300804
Joubert Syndrome 13 AR 614173
Joubert syndrome 14 AR 614424
Joubert syndrome 15 AR 614464
Joubert syndrome 16 AR 614465
Joubert syndrome 18 AR 614815
Joubert syndrome 19 AR 614844
Joubert Syndrome 2 AR 608091
Joubert syndrome 20 AR 614970
Joubert Syndrome 21 AR 615636
Joubert Syndrome 22 AR 615665
Joubert Syndrome 23 AR 616490
Joubert Syndrome 24 AR 616654
Joubert Syndrome 25 AR 616781
Joubert Syndrome 26 AR 616784
Joubert Syndrome 27 AR 617120
Joubert Syndrome 28 AR 617121
Joubert Syndrome 3 AR 608629
Joubert Syndrome 30 AR 617622
Joubert Syndrome 31 AR 617761
Joubert Syndrome 32 AR 617757
Joubert Syndrome 33 AR 617767
Joubert syndrome 35 AR 618161
Joubert Syndrome 4 AR 609583
Joubert Syndrome 5 AR 610188
Joubert Syndrome 6 AR 610688
Joubert Syndrome 7 AR 611560
Joubert Syndrome 8 AR 612291
Joubert Syndrome 9 AR 612285
Kahrizi syndrome AR 612713
Kallmann Syndrome 2 AD 147950
Kallmann Syndrome 6 AD 612702
Knobloch Syndrome 1 AR 267750
Leber Congenital Amaurosis 10 611755
Leukodystrophy, Hypomyelinating, 6 AD 612438
Leukoencephalopathy, Diffuse Hereditary, with Spheroids AD 221820
Liang-Wang syndrome AD 618729
Lissencephaly 1 AD 607432
Lissencephaly 10 AD 618873
Lissencephaly 2 AR 257320
Lissencephaly 3 AD 611603
Lissencephaly 4 AR 614019
Lissencephaly 5 AR 615191
Lissencephaly 6, with microcephaly AR 616212
Lissencephaly 7 with cerebellar hypoplasia AR 616342
Lissencephaly 8 AR 617255
Lissencephaly 9 with complex brainstem malformation AD 618325
Lujan-Fryns Syndrome XL 309520
Luscan-Lumish Syndrome AD 616831
Macrocephaly, acquired, with impaired intellectual development AD 618286
MASA Syndrome XL 303350
Meckel Syndrome 1 AR 249000
Meckel Syndrome 10 AR 614175
Meckel syndrome 11 AR 615397
Meckel Syndrome 12 AR 616258
Meckel Syndrome 13 AR 617562
Meckel Syndrome 2 AR 603194
Meckel Syndrome 3 AR 607361
Meckel Syndrome 4 AR 611134
Meckel Syndrome 5 AR 611561
Meckel Syndrome 6 AR 612284
Meckel Syndrome 7 AR 267010
Meckel Syndrome 8 AR 613885
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations AD 618273
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 AD 603387
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 AD 615937
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 AD 615938
Menke-Hennekam syndrome 1 618332
Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia XL 300749
Mental Retardation With Language Impairment And Autistic Features AD 613670
Mental Retardation, Autosomal Dominant 13; MRD13 AD 614563
Mental Retardation, Autosomal dominant 19 AD 615075
Mental Retardation, Autosomal Dominant 26 AD 615834
Mental Retardation, Autosomal Recessive 13 AR 613192
Mental retardation, autosomal recessive 34, with variant lissencephaly AR 614499
Mental retardation, autosomal recessive 55 AR 617051
Mental Retardation, Stereotypic Movements, Epilepsy, And/Or Cerebral Malformations AD 613443
Mental Retardation, X-linked 100 XL 300923
Mental Retardation, X-Linked 102 XL 300958
Mental Retardation, X-Linked, With Short Stature, Hypogonadism, And Abnormal Gait XL 300354
Merosin Deficient Congenital Muscular Dystrophy AR 607855
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant AD 618564
Microcephaly 10, primary, autosomal recessive AR 615095
Microcephaly 15, primary, autosomal recessive AR 616486
Microcephaly 16, primary, autosomal recessive AR 616681
Microcephaly 20, primary, autosomal recessive AR 617914
Microcephaly 22, primary, autosomal recessive AR 617984
Microcephaly and Chorioretinopathy, Autosomal Recessive, 1 AR 251270
Microcephaly and Chorioretinopathy, Autosomal Recessive, 2 AR 616171
Microcephaly and Chorioretinopathy, Autosomal Recessive, 3 AR 616335
Microcephaly with or without Chorioretinopathy, Lymphedema, or Mental Retardation AD 152950
Microcephaly, Epilepsy, And Diabetes Syndrome AR 614231
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy AR 613668
Microcephaly, short stature, and polymicrogyria with seizures AR 614833
Microcephaly-capillary malformation syndrome AR 614261
Mowat-Wilson Syndrome AD 235730
Muscle Eye Brain Disease AR 253280
Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A, 10; MDDGA10 AR 615041
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 AR 615249
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 AR 615287
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 AR 615350
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 AR 613150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 AR 613154
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 AR 614643
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 AR 616538
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 AR 615181
Nephronophthisis 14 AR 614844
Neu-Laxova syndrome 1 AR 256520
Neu-Laxova syndrome 2 AR 616038
Neurodegeneration With Brain Iron Accumulation 6 AR 615643
Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter AD 617807
Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum AR 618090
Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity AR 618730
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures AD 618709
Neurodevelopmental disorder with or without variable brain abnormalities AD 618443
Neurooculocardiogenitourinary syndrome AD 618652
Neuropathy, Hereditary Motor and Sensory, Type VIB AR 616505
Noonan syndrome-like disorder with loose anagen hair 2 AD 617506
OHDO Syndrome, X-linked; OHDOX XL 300895
Orofaciodigital Syndrome IV AR 258860
Orofaciodigital syndrome VI AR 277170
Orofaciodigital Syndrome XIV AR 615948
Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures AR 618737
Periventricular nodular heterotopia 6 AD 615544
Periventricular Nodular Heterotopia 7 AD 617201
Pfeiffer Syndrome AD 101600
Pitt-Hopkins Syndrome AD 610954
Polymicrogyria With Optic Nerve Hypoplasia AR 613180
Polymicrogyria, Asymmetric AD 610031
Polymicrogyria, Bilateral Frontoparietal AR 606854
Polymicrogyria, bilateral perisylvian 615752
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis AR 616531
Pontocerebellar Hypoplasia Type 1 AR 607596
Pontocerebellar Hypoplasia Type 10 AR 615803
Pontocerebellar Hypoplasia Type 11 AR 617695
Pontocerebellar Hypoplasia Type 1B AR 614678
Pontocerebellar Hypoplasia Type 2A AR 277470
Pontocerebellar Hypoplasia Type 2B AR 612389
Pontocerebellar Hypoplasia Type 2C AR 612390
Pontocerebellar Hypoplasia Type 2D AR 613811
Pontocerebellar Hypoplasia Type 2E AR 615851
Pontocerebellar Hypoplasia Type 2F AR 617026
Pontocerebellar Hypoplasia Type 4 AR 225753
Pontocerebellar Hypoplasia Type 5 AR 610204
Pontocerebellar Hypoplasia Type 6 AR 611523
Pontocerebellar Hypoplasia Type 7 AR 614969
Pontocerebellar Hypoplasia Type 8 AR 614961
Pontocerebellar Hypoplasia Type 9 AR 615809
Pontocerebellar hypoplasia, type 12 AR 618266
Pontocerebellar hypoplasia, type 13 AR 618606
Pontocerebellar hypoplasia, type 1C AR 616081
Pontocerebellar hypoplasia, type 1D AR 618065
Pontocerebellar hypoplasia, type 3 AR 608027
Porencephaly 1 AD 175780
Porencephaly 2 AD 614483
Primary Autosomal Recessive Microcephaly 1 AR 251200
Primary Autosomal Recessive Microcephaly 17 AR 617090
Primary Autosomal Recessive Microcephaly 2 AR 604317
Primary Autosomal Recessive Microcephaly 3 AR 604804
Primary Autosomal Recessive Microcephaly 4 AR 604321
Primary Autosomal Recessive Microcephaly 5 AR 608716
Primary Autosomal Recessive Microcephaly 6 AR 608393
Primary Autosomal Recessive Microcephaly 7 AR 612703
Primary Autosomal Recessive Microcephaly 8 AR 614673
Primary Autosomal Recessive Microcephaly 9 AR 614852
Primrose Syndrome AD 259050
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome AR 225790
Proud Levine Carpenter Syndrome XL 300004
Pseudo-TORCH Syndrome 1 AR 251290
Pseudo-TORCH syndrome 2 AR 617397
Renpenning Syndrome 1 XL 309500
Rett Syndrome, Congenital Variant AD 613454
Rolandic Epilepsy, Mental Retardation, And Speech Dyspraxia, X-Linked 300643
Rubinstein-Taybi Syndrome AD 180849
Schizencephaly 269160
Seckel Syndrome AR 210600
Seckel Syndrome 2 AR 606744
Seckel Syndrome 5 AR 613823
Seizures, Cortical Blindness, Microcephaly Syndrome AR 616632
Senior-Loken Syndrome 6 AR 610189
Short-Rib Thoracic Dysplasia 10 with or without Polydactyly AR 615630
Short-Rib Thoracic Dysplasia 4 with or without Polydactyly AR 613819
Single Upper Central Incisor AD 147250
Smith-Kingsmore Syndrome AD 616638
Smith-Lemli-Opitz Syndrome AR 270400
Spastic Paraplegia 50 AR 612936
Spastic tetraplegia, thin corpus callosum, and progressive microcephaly AR 616657
Stromme syndrome AR 243605
Trigonocephaly, Nonsyndromic AD 190440
Tuberous Sclerosis 1 AD 191100
Tuberous Sclerosis 2 AD 613254
Van Maldergem Syndrome 1 AR 601390
Van Maldergem Syndrome 2 AR 615546
Vasculopathy, Retinal, With Cerebral Leukodystrophy AD 192315
VLDLR-Associated Cerebellar Hypoplasia AR 224050
Walker-Warburg Congenital Muscular Dystrophy AR 614830
Walker-Warburg Congenital Muscular Dystrophy AR 236670
Warburg Micro Syndrome 1 AR 600118
Warburg Micro Syndrome 2 AR 614225
Warburg Micro Syndrome 3 AR 614222
Warburg Micro Syndrome 4 AR 615663
X-Linked Hydrocephalus Syndrome XL 307000
X-Linked Lissencephaly XL 300067
X-Linked Lissencephaly 2 XL 300215
X-Linked Periventricular Heterotopia XL 300049
X-LinkedMental Retardation With Cerebellar Hypoplasia And Distinctive Facial Appearance XL 300486
Xia-Gibbs syndrome AD 615829
ZTTK Syndrome AD 617140

Related Test

Name
PGxome®

Citations

  • Bahi-Buisson and Cavallin et al. 2016. PubMed ID: 27010057
  • Barak et al. 2011. PubMed ID: 21572413
  • Bouchet et al. 2007. PubMed ID: 17559086
  • Brock et al. 2018. PubMed ID: 29706637
  • Di Donato et al. 2018. PubMed ID: 29671837
  • Knupp and Parsons. 2009. Nervous System Disorders. In: Carey et al., editors. Elsevier Inc. Developmental-Behavioral Pediatrics.
  • Lange et al. 2015. PubMed ID: 26471271
  • Parrini et al. 2006. PubMed ID: 16684786
  • Poirier et al. 2013. PubMed ID: 23603762
  • Rall et al. 2018. PubMed ID: 29024830
  • Rodan et al. 2017. PubMed ID: 27770045
  • Romaniello et al. 2017. PubMed ID: 28677066
  • Sheen et al. 2004. PubMed ID: 14647276
  • Spalice et al. 2009. PubMed ID: 19120042
  • Tanyalçin et al. 2013. PubMed ID: 23755938

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