Autism Spectrum Disorders (ASD) Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
5061 ACTB 81479,81479 Order Options and Pricing
ADNP 81479,81479
ADSL 81479,81479
AHDC1 81479,81479
ALDH5A1 81479,81479
ANK2 81479,81479
ANK3 81479,81479
ANKRD11 81479,81479
ARHGEF9 81479,81479
ARID1B 81479,81479
ARX 81404,81403
ASH1L 81479,81479
ASXL3 81479,81479
AUTS2 81479,81479
BAZ2B 81479,81479
BCKDK 81479,81479
BCL11A 81479,81479
BRAF 81406,81479
BRSK2 81479,81479
C12orf57 81479,81479
CACNA1C 81479,81479
CACNA2D3 81479,81479
CASK 81479,81479
CC2D1A 81479,81479
CDC42BPB 81479,81479
CDKL5 81406,81405
CHAMP1 81479,81479
CHD2 81479,81479
CHD3 81479,81479
CHD7 81407,81479
CHD8 81479,81479
CIC 81479,81479
CNOT3 81479,81479
CNTN6 81479,81479
CNTNAP2 81406,81479
CREBBP 81407,81406
CSDE1 81479,81479
CTCF 81479,81479
CTNND2 81479,81479
CTTNBP2 81479,81479
CUL3 81479,81479
DDX3X 81479,81479
DEAF1 81479,81479
DHCR7 81405,81479
DISC1 81479,81479
DLG4 81479,81479
DNMT3A 81479,81479
DSCAM 81479,81479
DYRK1A 81479,81479
EBF3 81479,81479
EFR3A 81479,81479
EHMT1 81479,81479
EP300 81479,81479
FMR1 81479,81479
FOXG1 81404,81479
FOXP1 81479,81479
FOXP2 81479,81479
GABRB3 81479,81479
GAMT 81479,81479
GATM 81479,81479
GIGYF1 81479,81479
GRIN2B 81479,81479
GRIP1 81479,81479
HCN1 81479,81479
HIVEP2 81479,81479
HNRNPH2 81479,81479
HNRNPU 81479,81479
HRAS 81404,81479
IQSEC2 81479,81479
IRF2BPL 81479,81479
KANSL1 81479,81479
KATNAL2 81479,81479
KCNB1 81479,81479
KCNQ3 81479,81479
KDM3B 81479,81479
KDM5B 81479,81479
KDM6B 81479,81479
KMT2A 81479,81479
KMT2C 81479,81479
KMT2E 81479,81479
KMT5B 81479,81479
KRAS 81405,81479
MAGEL2 81479,81479
MAOA 81479,81479
MBD5 81479,81479
MBOAT7 81479,81479
MECP2 81302,81304
MED13 81479,81479
MED13L 81479,81479
MEIS2 81479,81479
MYT1L 81479,81479
NAA15 81479,81479
NACC1 81479,81479
NBEA 81479,81479
NDP 81404,81403
NEXMIF 81479,81479
NFIX 81479,81479
NLGN3 81405,81479
NLGN4X 81405,81404
NR4A2 81479,81479
NRXN1 81479,81479
NRXN3 81479,81479
NSD1 81406,81405
PACS1 81479,81479
PCDH19 81405,81479
PHF21A 81479,81479
PHF3 81479,81479
POGZ 81479,81479
POMGNT1 81406,81479
PPP1CB 81479,81479
PPP2R5D 81479,81479
PQBP1 81405,81404
PRR12 81479,81479
PSMD12 81479,81479
PTCHD1 81479,81479
PTEN 81321,81323
PTPN11 81406,81479
RAB39B 81479,81479
RAD21 81479,81479
RAF1 81406,81479
RAI1 81405,81479
RELN 81479,81479
RERE 81479,81479
RFX3 81479,81479
SCN1A 81407,81479
SCN2A 81479,81479
SCN8A 81479,81479
SETBP1 81479,81479
SETD2 81479,81479
SETD5 81479,81479
SGSH 81479,81479
SHANK2 81479,81479
SHANK3 81479,81479
SIN3A 81479,81479
SLC6A1 81479,81479
SLC9A6 81406,81479
SMAD4 81406,81405
SMARCC2 81479,81479
SON 81479,81479
SOX5 81479,81479
SPAST 81406,81405
STXBP1 81406,81479
STXBP5 81479,81479
SYNGAP1 81479,81479
TANC2 81479,81479
TAOK1 81479,81479
TBC1D20 81479,81479
TBCK 81479,81479
TBL1XR1 81479,81479
TBR1 81479,81479
TCF20 81479,81479
TCF4 81406,81405
TLK2 81479,81479
TNRC6B 81479,81479
TRAF7 81479,81479
TRIO 81479,81479
TRIP12 81479,81479
TSC1 81406,81405
TSC2 81407,81406
TSHZ3 81479,81479
UBE3A 81406,81479
UPF3B 81479,81479
VPS13B 81408,81407
WAC 81479,81479
WDFY3 81479,81479
ZBTB20 81479,81479
ZMYND11 81479,81479
ZNF292 81479,81479
ZNF407 81479,81479
ZNF462 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
5061Genes x (170)81479 81302, 81304, 81321, 81323, 81403, 81404, 81405, 81406, 81407, 81408, 81479 $1280 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.

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

Neurodevelopmental disorders are clinically diverse. Among them, autism spectrum disorder (ASD), intellectual disability (ID), and epilepsy have a high incidence of co-occurrence and significant overlap of genetic causes (Li et al. 2016. PubMed ID: 25849321; Jensen and Girirajan. 2017. PubMed ID: 29241461; Sztainberg and Zoghbi 2016. PubMed ID: 27786181).

ASD is characterized by varying degrees of social impairment, communication ability, propensity for repetitive behavior(s), and restricted interests (Levy et al. 2009. PubMed ID: 19819542). Incidence of ASD is approximately 1 in 54 individuals with a male-to-female ratio of 4:1 (Maenner et al. 2020. PubMed ID: 32214087). ASD symptoms usually present by age 3, and diagnosis is based on the degree and severity of symptoms and behaviors (McPartland et al. 2016). Comorbidities are observed in more than 70% of cases, and include ID, epilepsy, language deficits, and gastrointestinal problems (Sztainberg and Zoghbi. 2016. PubMed ID: 27786181). Co-occurring ASD and ID has a similar male-to-female prevalence ratio of 4:1 (Christensen et al. 2016. PubMed ID: 27031587). Furthermore, neurodevelopmental phenotypes are frequently associated with other medical conditions (for example cardiac defects, renal anomalies) prompting changes in clinical management of the individual (Vorstman et al. 2017 PubMed ID: 28260791).

ASDs are subdivided into idiopathic and syndromic forms. Syndromic ASD patients present with additional phenotypes or dysmorphic features and represent ~5% of all ASD cases (Casanova et al. 2016. PubMed ID: 26985359). In most cases, multiple genetic and environmental factors play a role in the development of ASD. Depending on the gene, variants may only be a risk factor for ASD, have incomplete penetrance, and/or be insufficient to cause ASD on their own (Hoang et al. 2017. PubMed ID: 28803755).

Genetics

The heritability of ASD is multifactorial and reportedly ranges between 50-90% (Larsen et al. 2016. PubMed ID: 27790361; Lichtenstein et al. 2010. PubMed ID: 20686188). ASD concordance is as high as 70% in monozygotic twins. Familial recurrence rates are 7% if the first affected child is female and 4% if first affected child is male (Schaefer and Mendelsohn. 2008. PubMed ID: 18197051). Interestingly, ~69% of affected siblings carry different rare, penetrant variants in multiplex families, while shared de novo events have been reported in approximately 20% of sibling pairs (Yuen et al. 2015. PubMed ID: 25621899).

Chromosomal abnormalities (Fragile X syndrome, translocations, recurrent microdeletions/duplications, copy number variants) and pathogenic sequence variants, familial and de novo, can explain ~30% of ASD cases. Low-level mosaicism and balanced translocation variants are causative in less than 1% of ASD cases. Monogenic causes of ASD are reported in 10-20% of individuals, however no single gene accounts for more than 1% of all ASD cases (Ilyas et al. 2020. PubMed ID: 31984132; Wang et al. 2020. PubMed ID: 32429945; Miller et al. 2010. PubMed ID: 20466091; Rylaarsdam and Guemez-Gamboa. 2019. PubMed ID: 31481879; Vissers et al. 2016. PubMed ID: 26503795; Bourgeron. 2015. PubMed ID: 26289574). For ASD, de novo missense and likely gene disrupting variants are 15% and 75% more frequent, respectively in patients than unaffected controls (Iossifov et al. 2014. PubMed ID: 25363768). Hence, trio testing (whenever possible) is considered the most powerful approach for genetic diagnosis of ASD (Lee et al. 2014. PubMed ID: 25326637; Wright et al. 2015. PubMed ID: 25529582).

This test includes genes that through literature, OMIM, and HGMD searches have a clear association with ASD phenotypes. See individual gene summaries for information about the molecular biology of gene products and spectra of pathogenic variants.

Testing Strategy

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

This panel typically provides 97.9% 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).

Clinical Sensitivity - Sequencing with CNV PGxome

CMA and FMR1 CGG-repeat expansion testing have a reported diagnostic yield of up to 15% for individuals with ASD and/or developmental delay phenotypes (Schaefer and Mendelsohn. 2013. PubMed ID: 23519317; Woodbury-Smith and Scherer. 2018. PubMed ID: 29574884; Vasudevan and Suri. 2017. PubMed ID: 29196358; Bass and Skuse. 2018. PubMed ID: 30138136). Combined genetic approaches (karyotype, CMA, and exome analysis) have identified a genetic diagnosis in 25-30% of ASD cases (Bourgeron. 2015. PubMed ID: 26289574; Bowling et al. 2017; PubMed ID: 28554332). 

Trio-based studies achieve the highest diagnostic rates for developmental phenotypes due to their ability to phase compound heterozygous variants and identify de novo events (30-40%, Lee et al. 2014. PubMed ID: 25326637; Fitzgerald. 2015. PubMed ID: 25533962; Wright et al. 2015. PubMed ID: 25529582; Retterer et al. 2016. PubMed ID: 26633542). Therefore, when possible, parental testing is recommended to maximize clinical sensitivity of this panel and inform variant interpretation.

This test will detect large deletions and insertions (Copy Number Variants, CNVs) as well as smaller sequence variants (nucleotide substitutions and small deletions and insertions (SNVs)) with high analytical sensitivity. Detection of trinucleotide repeat expansions (as seen in Fragile X Syndrome, for example) requires an alternative test. FMR1 CGG-repeat expansion is NOT part of this panel and can be ordered using Test Code #558.

Indications for Test

This test is primarily indicated for patients at least 3 years of age with an ASD diagnosis with or without a syndromic clinical phenotype, and who are negative for Fragile-X syndrome (particularly males). The FMR1 CGG-repeat expansion (Test #558) test is available to individuals who have not been previously tested.

Genes

Official Gene Symbol OMIM ID
ACTB 102630
ADNP 611386
ADSL 608222
AHDC1 615790
ALDH5A1 610045
ANK2 106410
ANK3 600465
ANKRD11 611192
ARHGEF9 300429
ARID1B 614556
ARX 300382
ASH1L 607999
ASXL3 615115
AUTS2 607270
BAZ2B 605683
BCKDK 614901
BCL11A 606557
BRAF 164757
BRSK2 609236
C12orf57 615140
CACNA1C 114205
CACNA2D3 606399
CASK 300172
CC2D1A 610055
CDC42BPB 614062
CDKL5 300203
CHAMP1 616327
CHD2 602119
CHD3 602120
CHD7 608892
CHD8 610528
CIC 612082
CNOT3 604910
CNTN6 607220
CNTNAP2 604569
CREBBP 600140
CSDE1 191510
CTCF 604167
CTNND2 604275
CTTNBP2 609772
CUL3 603136
DDX3X 300160
DEAF1 602635
DHCR7 602858
DISC1 605210
DLG4 602887
DNMT3A 602769
DSCAM 602523
DYRK1A 600855
EBF3 607407
EFR3A 611798
EHMT1 607001
EP300 602700
FMR1 309550
FOXG1 164874
FOXP1 605515
FOXP2 605317
GABRB3 137192
GAMT 601240
GATM 602360
GIGYF1 612064
GRIN2B 138252
GRIP1 604597
HCN1 602780
HIVEP2 143054
HNRNPH2 300610
HNRNPU 602869
HRAS 190020
IQSEC2 300522
IRF2BPL 611720
KANSL1 612452
KATNAL2 614697
KCNB1 600397
KCNQ3 602232
KDM3B 609373
KDM5B 605393
KDM6B 611577
KMT2A 159555
KMT2C 606833
KMT2E 608444
KMT5B 610881
KRAS 190070
MAGEL2 605283
MAOA 309850
MBD5 611472
MBOAT7 606048
MECP2 300005
MED13 603808
MED13L 608771
MEIS2 601740
MYT1L 613084
NAA15 608000
NACC1 610672
NBEA 604889
NDP 300658
NEXMIF 300524
NFIX 164005
NLGN3 300336
NLGN4X 300427
NR4A2 601828
NRXN1 600565
NRXN3 600567
NSD1 606681
PACS1 607492
PCDH19 300460
PHF21A 608325
PHF3 607789
POGZ 614787
POMGNT1 606822
PPP1CB 600590
PPP2R5D 601646
PQBP1 300463
PRR12 616633
PSMD12 604450
PTCHD1 300828
PTEN 601728
PTPN11 176876
RAB39B 300774
RAD21 606462
RAF1 164760
RAI1 607642
RELN 600514
RERE 605226
RFX3 601337
SCN1A 182389
SCN2A 182390
SCN8A 600702
SETBP1 611060
SETD2 612778
SETD5 615743
SGSH 605270
SHANK2 603290
SHANK3 606230
SIN3A 607776
SLC6A1 137165
SLC9A6 300231
SMAD4 600993
SMARCC2 601734
SON 182465
SOX5 604975
SPAST 604277
STXBP1 602926
STXBP5 604586
SYNGAP1 603384
TANC2 615047
TAOK1 610266
TBC1D20 611663
TBCK 616899
TBL1XR1 608628
TBR1 604616
TCF20 603107
TCF4 602272
TLK2 608439
TNRC6B 610740
TRAF7 606692
TRIO 601893
TRIP12 604506
TSC1 605284
TSC2 191092
TSHZ3 614119
UBE3A 601623
UPF3B 300298
VPS13B 607817
WAC 615049
WDFY3 617485
ZBTB20 606025
ZMYND11 608668
ZNF292 616213
ZNF407 615894
ZNF462 617371
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Diseases

Name Inheritance OMIM ID
Adenylosuccinate Lyase Deficiency AR 103050
AGAT Deficiency AR 612718
Aml - Acute Myeloid Leukemia 601626
Angelman Syndrome AD 105830
Arteriovenous Malformations Of The Brain 108010
Asperger Syndrome, X-Linked, Susceptibility To, 1 MF 300494
Asperger Syndrome, X-Linked, Susceptibility To, 2 XL 300497
Autism 15 612100
Autism 17 613436
Autism Susceptibility 1 209850
Autism, Susceptibility to, 18 AD 615032
Autism, Susceptibility To, X-Linked 1 XL 300425
Autism, Susceptibility To, X-Linked 2 MF 300495
Autism, Susceptibility To, X-Linked 3 XL 300496
Autism, Susceptibility to, X-linked 4 XL 300830
Bainbridge-Ropers Syndrome AD 615485
Baraitser-Winter Syndrome 1 AD 243310
Benign Familial Neonatal-Infantile Seizures AD 607745
Bladder Cancer 109800
Branched-chain ketoacid dehydrogenase kinase deficiency 614923
Brugada Syndrome 3 611875
Cardiac, facial, and digital anomalies with developmental delay AD 618164
Cardio-Facio-Cutaneous Syndrome AD 115150
Cardiofaciocutaneous syndrome 2 AD 615278
Cardiomyopathy, dilated, 1NN AD 615916
CHARGE Association AD 214800
Chromosome 9Q Deletion Syndrome AD 610253
Cleft palate, cardiac defects, and mental retardation AD 600987
Coffin-Siris Syndrome 1 AD 135900
Coffin-Siris syndrome 8 AD 618362
Cognitive Impairment With Or Without Cerebellar Ataxia AD 614306
Cohen Syndrome AR 216550
Corneal dystrophy, Fuchs endothelial, 3 AD 613267
Cornelia de Lange syndrome 4 AD 614701
Cortical Dysplasia-Focal Epilepsy Syndrome AR 610042
Costello Syndrome AD 218040
Cowden Disease AD 158350
Deficiency Of Guanidinoacetate Methyltransferase AR 612736
Desanto-Shinawi syndrome AD 616708
Developmental and Epileptic Encephalopathy 4 AD 612164
Developmental delay with variable intellectual impairment and behavioral abnormalities AD 618430
Dias-Logan Syndrome AD 617101
Diets-Jongmans syndrome AD 618846
Dyskinesia, Seizures, and Intellectual Developmental Disorder AR 617171
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations XL 300673
Epidermal Nevus 162900
Epilepsy, Childhood Absence 5 612269
Epilepsy, Familial Temporal Lobe, 7 AD 616436
Epileptic encephalopathy, childhood-onset AD 615369
Epileptic encephalopathy, early infantile, 1 XL 308350
Epileptic Encephalopathy, Early Infantile, 11 AD 613721
Epileptic Encephalopathy, Early Infantile, 13 AD 614558
Epileptic Encephalopathy, Early Infantile, 2 XL 300672
Epileptic Encephalopathy, Early Infantile, 24 AD 615871
Epileptic Encephalopathy, Early Infantile, 26 AD 616056
Epileptic Encephalopathy, Early Infantile, 27 AD 616139
Epileptic Encephalopathy, Early Infantile, 43 AD 617113
Epileptic Encephalopathy, Early Infantile, 54 AD 617391
Epileptic Encephalopathy, Early Infantile, 8 XL 300607
Epileptic Encephalopathy, Early Infantile, 9 XL 300088
Episodic ataxia, type 9 AD 618924
Exudative Vitreoretinopathy 2, X-Linked XL 305390
Familial Cancer Of Breast 114480
Familial Colorectal Cancer 114500
Familial Hemiplegic Migraine Type 3 AD 609634
Fanconi renotubular syndrome 1 AD 134600
FG Syndrome 4 300422
Focal Cortical Dysplasia Of Taylor 607341
Fragile X Syndrome XL 300624
Fragile X Tremor/Ataxia Syndrome XL 300623
Fraser Syndrome 3 AR 617667
Generalized epilepsy with febrile seizures plus, type 10 AD 618482
Generalized Epilepsy With Febrile Seizures Plus, Type 2 AD 604403
Glioma Susceptibility 2 613028
Helsmoortel-van der Aa Syndrome AD 615873
Hereditary Diffuse Gastric Cancer 137215
Heyn-Sproul-Jackson syndrome AD 618724
Hypotonia, ataxia, and delayed development syndrome AD 617330
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 AR 616900
Intellectual developmental disorder 61 AD 618009
Intellectual developmental disorder 62 AD 618793
Intellectual developmental disorder with autism and speech delay AD 606053
Intellectual developmental disorder with autistic features and language delay, with or without seizures AD 618906
Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures AD 618725
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies AD 618672
Intellectual developmental disorder, autosomal dominant 63, with macrocephaly AD 618825
Juvenile Myelomonocytic Leukemia 607785
Juvenile Polyposis Syndrome AD 174900
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome AD 175050
Juvenile-Onset Dystonia AD 607371
Kallmann Syndrome 5 AD 612370
KBG Syndrome AD 148050
Kleefstra syndrome 2 AD 617768
Koolen-De Vries Syndrome AD 610443
Lamb-Shaffer syndrome AD 616803
LEOPARD Syndrome AD 151100
LEOPARD Syndrome 2 611554
LEOPARD Syndrome 3 AD 613707
Lissencephaly 2 AR 257320
Long QT Syndrome 4 AD 600919
Long QT syndrome 8 618447
Lung Cancer 211980
Luscan-Lumish Syndrome AD 616831
Lymphangioleiomyomatosis 606690
Macrocephaly/Autism Syndrome AD 605309
Marshall-Smith Syndrome AD 602535
MECP2 Duplication Syndrome XL 300260
Meningioma, Familial 607174
Menke-Hennekam syndrome 1 AD 618332
Menke-Hennekam syndrome 2 AD 618333
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 With Language Impairment And Autistic Features AD 613670
Mental Retardation, Autosomal Dominant 1 AD 156200
Mental Retardation, Autosomal Dominant 21 AD 615502
Mental Retardation, Autosomal Dominant 23 AD 615761
Mental Retardation, Autosomal Dominant 24 AD 615828
Mental Retardation, Autosomal Dominant 26 AD 615834
Mental Retardation, Autosomal Dominant 29 AD 616078
Mental Retardation, Autosomal Dominant 30 AD 616083
Mental retardation, autosomal dominant 35 AD 616355
Mental Retardation, Autosomal Dominant 39 AD 616521
Mental retardation, autosomal dominant 40 AD 616579
Mental Retardation, Autosomal Dominant 41 AD 616944
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 49 AD 617752
Mental Retardation, Autosomal Dominant 5 AD 612621
Mental Retardation, Autosomal Dominant 50 AD 617787
Mental Retardation, Autosomal Dominant 51 AD 617788
Mental Retardation, Autosomal Dominant 52 AD 617796
Mental retardation, autosomal dominant 57 AD 618050
Mental Retardation, Autosomal Dominant 6 AD 613970
Mental Retardation, Autosomal Dominant 7 AD 614104
Mental Retardation, Autosomal Recessive 3 AR 608443
Mental retardation, autosomal recessive 57 AR 617188
Mental retardation, autosomal recessive 65 AR 618109
Mental retardation, autosomal recessive, 37 AR 615493
Mental Retardation, X-Linked 1/78 XL 309530
Mental Retardation, X-Linked 102 XL 300958
Mental Retardation, X-Linked 72 XL 300271
Mental Retardation, X-linked 98 XL 300912
Mental Retardation, X-Linked, Syndromic 13 XL 300055
Mental Retardation, X-Linked, Syndromic 14 XL 300676
Mental Retardation, X-linked, Syndromic, Bain Type XL 300986
Mental Retardation, X-Linked, Syndromic, Christianson Type XL 300243
Mental Retardation, X-Linked, With Or Without Seizures, Arx-Related XL 300419
Metachondromatosis AD 156250
Microcephaly 18, Primary, Autosomal Dominant AD 617520
Monoamine Oxidase A Deficiency XL 300615
Mucopolysaccharidosis, MPS-III-A AR 252900
Mungan syndrome AR 611376
Muscle Eye Brain Disease AR 253280
Muscular Dystrophy-Dystroglycanopathy (Congenital With Mental Retardation), Type B, 3 AR 613151
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 AR 613157
Myhre Syndrome AD 139210
Myoclonic-Atonic Epilepsy AD 616421
Myoclonus, familial, 2 AD 618364
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities AD 618505
Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination AD 617393
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart AD 616975
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures AD 618088
Noonan Syndrome 1 AD 163950
Noonan Syndrome 3 AD 609942
Noonan Syndrome 5 AD 611553
Noonan Syndrome 7 AD 613706
Noonan syndrome-like disorder with loose anagen hair 2 AD 617506
Norrie Disease XL 310600
O'Donnell-Luria-Rodan syndrome AD 618512
Oculoectodermal syndrome, somatic 600268
Pancreatic Cancer 260350
Partington X-Linked Mental Retardation Syndrome XL 309510
Phelan-Mcdermid Syndrome AD 606232
Pierpont syndrome AD 602342
Pitt-Hopkins Syndrome AD 610954
Pitt-Hopkins-like syndrome 2 AR 614325
Premature Ovarian Failure XL 311360
Primrose Syndrome AD 259050
Prostate Cancer 176807
Proud Levine Carpenter Syndrome XL 300004
Pseudohypoaldosteronism, type IIE AD 614496
RAS-Associated Autoimmune Leukoproliferative Disorder 614470
Renpenning Syndrome 1 XL 309500
Retinitis pigmentosa 76 AR 617123
Rett Syndrome XL 312750
Rett Syndrome, Congenital Variant AD 613454
Rubinstein-Taybi Syndrome AD 180849
Rubinstein-Taybi Syndrome 2 AD 613684
Schaaf-Yang Syndrome AD 615547
Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic 163200
Schinzel-Giedion Midface Retraction Syndrome AD 269150
Schizophrenia 15 AD 613950
Schizophrenia 17 614332
Schizophrenia 9 604906
Schuurs-Hoeijmakers Syndrome AD 615009
Seizures, benign familial infantile, 5 AD 617080
Seizures, Benign Familial Neonatal, 2 AD 121201
Severe Myoclonic Epilepsy In Infancy AD 607208
Smith-Lemli-Opitz Syndrome AR 270400
Smith-Magenis Syndrome AD 182290
Snijders Blok-Campeau syndrome AD 618205
Sotos Syndrome 2 AD 614753
Sotos' Syndrome AD 117550
Spastic Paraplegia 4 AD 182601
Speech-Language Disorder 1 AD 602081
Spitz nevus or nevus spilus, somatic 137550
Stankiewicz-Isidor syndrome AD 617516
Succinate-Semialdehyde Dehydrogenase Deficiency AR 271980
Tatton-Brown-Rahman Syndrome AD 615879
Temtamy Syndrome AR 218340
Thyroid Cancer, Follicular 188470
Timothy Syndrome AD 601005
Transposition Of Great Arteries AD 608808
Tuberous Sclerosis 1 AD 191100
Tuberous Sclerosis 2 AD 613254
Waisman Syndrome XL 311510
Warburg Micro Syndrome 4 AR 615663
Weiss-Kruszka syndrome AD 618619
White-Sutton Syndrome AD 616364
Wiedemann-Steiner Syndrome AD 605130
Witteveen-Kolk Syndrome AD 613406
X-Linked Lissencephaly 2 XL 300215
Xia-Gibbs syndrome AD 615829
ZTTK Syndrome AD 617140

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Citations

  • Bass and Skuse. 2018. PubMed ID: 30138136
  • Bourgeron. 2015. PubMed ID: 26289574
  • Bowling et al. 2017. PubMed ID: 28554332
  • Casanova et al. 2016. PubMed ID: 26985359
  • Christensen et al. 2016. PubMed ID: 27031587
  • Fitzgerald et al. 2015. PubMed ID: 25533962
  • Hoang et al. 2017. PubMed ID: 28803755
  • Ilyas et al. 2020. PubMed ID: 31984132
  • Iossifov et al. 2014. PubMed ID: 25363768
  • Jensen and Girirajan. 2017. PubMed ID: 29241461
  • Larsen et al. 2016. PubMed ID: 27790361
  • Lee et al. 2014. PubMed ID: 25326637
  • Levy et al. 2009. PubMed ID: 19819542
  • Li et al. 2016. PubMed ID: 25849321
  • Lichtenstein et al. 2010. PubMed ID: 20686188
  • Maenner et al. 2020. PubMed ID: 32214087
  • McPartland et al. 2016. Encyclopedia of Mental Health. 2: 124-130.
  • Miller et al. 2010. PubMed ID: 20466091
  • Retterer et al. 2016. PubMed ID: 26633542
  • Rylaarsdam and Guemez-Gamboa. 2019. PubMed ID: 31481879
  • Schaefer and Mendelsohn. 2008. PubMed ID: 18197051
  • Schaefer and Mendelsohn. 2013. PubMed ID: 23519317
  • Sztainberg and Zoghbi. 2016. PubMed ID: 27786181
  • Vasudevan and Suri. 2017. PubMed ID: 29196358
  • Vissers et al. 2016. PubMed ID: 26503795
  • Vorstman et al. 2017. PubMed ID: 28260791
  • Wang et al. 2020. PubMed ID: 32429945
  • Woodbury-Smith and Scherer. 2018. PubMed ID: 29574884
  • Wright et al. 2015. PubMed ID: 25529582
  • Yuen et al. 2015. PubMed ID: 25621899

Ordering/Specimens

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myPrevent - Online Ordering

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  • 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


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