DNA icon

X-Linked Intellectual Disability Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
ABCD1 81405,81479
ACSL4 81479,81479
AFF2 81479,81479
AGTR2 81479,81479
AIFM1 81479,81479
ALG13 81479,81479
AMMECR1 81479,81479
AP1S2 81479,81479
ARHGEF6 81479,81479
ARHGEF9 81479,81479
ARSL 81479,81479
ARX 81404,81403
ATP6AP2 81479,81479
ATP7A 81479,81479
ATRX 81479,81479
BCAP31 81479,81479
BCOR 81479,81479
BCORL1 81479,81479
BRWD3 81479,81479
CASK 81479,81479
CCDC22 81479,81479
CDK16 81479,81479
CDKL5 81406,81405
CLCN4 81479,81479
CNKSR2 81479,81479
CUL4B 81479,81479
DCX 81405,81479
DDX3X 81479,81479
DKC1 81479,81479
DLG3 81479,81479
DMD 81408,81161
EBP 81479,81479
EIF2S3 81479,81479
FAAH2 81479,81479
FAM50A 81479,81479
FANCB 81479,81479
FGD1 81479,81479
FLNA 81479,81479
FMR1 81243,81479
FRMPD4 81479,81479
FTSJ1 81406,81405
GDI1 81479,81479
GK 81479,81479
GPC3 81479,81479
GPKOW 81479,81479
GRIA3 81479,81479
GRIPAP1 81479,81479
HCCS 81479,81479
HCFC1 81479,81479
HDAC6 81479,81479
HDAC8 81479,81479
HMGB3 81479,81479
HNRNPH2 81479,81479
HPRT1 81479,81479
HSD17B10 81479,81479
HUWE1 81479,81479
IDS 81405,81479
IGBP1 81479,81479
IKBKG 81479,81479
IL1RAPL1 81479,81479
IQSEC2 81479,81479
KDM5C 81407,81479
KDM6A 81479,81479
KIF4A 81479,81479
KLF8 81479,81479
KLHL15 81479,81479
L1CAM 81407,81479
LAMP2 81405,81479
LAS1L 81479,81479
MAOA 81479,81479
MBTPS2 81479,81479
MECP2 81302,81304
MED12 81479,81479
MID1 81479,81479
MID2 81479,81479
MSL3 81479,81479
MTM1 81405,81479
NAA10 81479,81479
NDP 81404,81403
NDUFA1 81404,81479
NEXMIF 81479,81479
NHS 81479,81479
NLGN3 81405,81479
NLGN4X 81405,81404
NONO 81479,81479
NSDHL 81479,81479
OCRL 81479,81479
OFD1 81479,81479
OGT 81479,81479
OPHN1 81479,81479
OTC 81405,81479
PAK3 81479,81479
PCDH19 81405,81479
PDHA1 81406,81405
PGK1 81479,81479
PHF6 81479,81479
PHF8 81479,81479
PIGA 81479,81479
PLP1 81405,81404
POLA1 81479,81479
PORCN 81479,81479
PQBP1 81405,81404
PRPS1 81479,81479
PTCHD1 81479,81479
RAB39B 81479,81479
RBM10 81479,81479
RLIM 81479,81479
RNF113A 81479,81479
RPL10 81479,81479
RPS6KA3 81479,81479
SHROOM4 81479,81479
SLC16A2 81405,81404
SLC35A2 81479,81479
SLC6A8 81479,81479
SLC9A6 81406,81479
SLC9A7 81479,81479
SMC1A 81479,81479
SMS 81479,81479
SOX3 81479,81479
SRPX2 81479,81479
SSR4 81479,81479
STAG2 81479,81479
STEEP1 81479,81479
SYN1 81479,81479
SYP 81479,81479
TAF1 81479,81479
THOC2 81479,81479
TIMM8A 81479,81479
TMLHE 81479,81479
TSPAN7 81479,81479
UBE2A 81479,81479
UPF3B 81479,81479
USP27X 81479,81479
USP9X 81479,81479
WDR45 81479,81479
ZC4H2 81479,81479
ZDHHC9 81479,81479
ZFP92 81479,81479
ZMYM3 81479,81479
ZNF674 81479,81479
ZNF711 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
2675Genes x (141)81479 81161(x1), 81243(x1), 81302(x1), 81304(x1), 81403(x2), 81404(x7), 81405(x15), 81406(x4), 81407(x2), 81408(x1), 81479(x247) $1290 Order Options and Pricing

Pricing Comments

CPT codes 81470 and 81471 can be used if at least 60 of the genes in the panel are analyzed. 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 Custom Panel tool.

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

Click here for costs to reflex to whole PGxome (if original test is on PGxome Sequencing platform).

Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing platform).

Turnaround Time

3 weeks on average for standard orders or 2 weeks on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

Targeted Testing

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


Genetic Counselors


  • Renee Bend, PhD

Clinical Features and Genetics

Clinical Features

Intellectual Disability (ID) is diagnosed in 1-3% of the total population, and X-linked genes account for 5-10% of ID cases in males (Vissers et al. 2016. PubMed ID: 26503795; Kaufman et al. 2010. PubMed ID: 21124998; Lubs et al. 2012. PubMed ID: 22482801; Tzschach. 2015. PubMed ID: 25649377). X-linked intellectual disability (XLID) is phenotypically diverse, ranging from severe early-onset syndromic diseases involving multiple systems, to mild or isolated (non-syndromic) forms (Neri et al. 2018. PubMed ID: 29696803).

While true treatments are often limited for XLID disorders, advantages of testing and molecular diagnosis are still numerous. These include prognostic information, early identification and treatment of symptoms (autism, seizures, other comorbidities), and ability to join condition-specific support groups. When parental inheritance is observed, families can use this information for future family planning (including prenatal testing or pre-implantation genetic diagnosis). Alternatively, if a patient has a confirmed de novo variant (undetectable in parents), this may ease anxiety for the family, due to the dramatically reduced recurrence risk.


X-linked intellectual disability occurs in both X-linked dominant and X-linked recessive inheritance patterns. Males are disproportionately affected with X-linked recessive (XLR) forms of XLID due to hemizygosity of the X-chromosome, while several factors affect disease presentation in females. One of these factors is skewed patterns of X-chromosome inactivation in females, which can impact disease severity or alter presenting symptoms (Plenge et al. 2002. PubMed ID: 12068376; Fieremans et al. 2016. PubMed ID: 27159028). In cases where inactivation is skewed completely toward the mutated allele, an XLR disorder may present similarly in a female to that seen in male. Alternatively, skewing toward the normal allele or tissue specific patterns of skewing may cause female carriers of an X-linked dominant disorder to present with significantly milder or variable presentations. The cellular mosaicism resulting from random X-inactivation in females is proposed as the mechanism for one female-limited form of XLID, caused by pathogenic variation in the PCDH19 gene (Dibbens et al. 2008. PubMed ID: 18469813). Another factor affecting gender-skewing in X-linked disorders is early lethality in males for some X-linked diseases, leading to these disorders appearing to disproportionately affect females (Franco et al. 2006. PubMed ID: 16650755).

This panel focuses on genes associated with established monogenic forms of XLID (Neri et al. 2018. PubMed ID: 29696803). A wide variety of causative variant types in these genes have been reported to cause XLID (including missense, nonsense, splicing, frameshift, large insertions and deletions, complex rearrangements, and trinucleotide repeat expansions)(Human Gene Mutation Database). Causative XLID variants in males are frequently inherited from an unaffected or mildly affected mother; yet, de novo mutations are another common cause of XLID in both males and females.

Clinical Sensitivity - Sequencing with CNV PGxome

Pathogenic variants in over 140 genes have been associated with XLID (Neri et al. 2018. PubMed ID: 29696803). As such, XLID genes represent ~15% of the total genes currently known to cause intellectual disability (ID) in humans (Neri et al. 2018. PubMed ID: 29696803). We estimate this panel will identify pathogenic variants in 20-40% of patients with a strong family history of X-linked intellectual disability (XLID), who are fragile-X negative. Increased diagnostic yield is observed for syndromic cases, while lower rates are observed for isolated or nonsyndromic ID (de Brouwer et al. 2007. PubMed ID: 17221867; Hu et al. 2016. PubMed ID: 25644381; Chiurazzi and Pirozzi. 2016. PubMed ID: 27127621). Due to the high genetic heterogeneity of ID, testing a large panel of genes is known to have a higher diagnostic yield; therefore, whole exome (or genome) sequencing should be considered for all patients with intellectual disability as a primary presenting symptom (Vissers et al. 2016. PubMed ID: 26503795). This test will detect both large copy number variants (CNVs) as well as smaller sequence variants with high analytical sensitivity. Detection of trinucleotide repeat expansions (as seen in fragile X syndrome) requires a different test.

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. PGnome panels typically provide slightly increased coverage over the PGxome equivalent. PGnome sequencing panels have the added benefit of additional analysis and reporting of deep intronic regions (where applicable).

Genes of this panel that typically get low coverage in an area of high pathogenic variation include (but are not necessarily limited to): ABCD1, IKBKG, and RPS6KA3. If a disorder associated with one of these genes is suspected, additional testing may be warranted. Special care is taken to obtain full coverage of the ARX gene on this panel. For two ARX exons where NGS coverage is typically poor (exons 2 and 5), we perform routine Sanger sequencing.

Dependent on the sequencing backbone selected for this testing, discounted reflex testing to any other similar backbone-based test is available (i.e., PGxome panel to whole PGxome; PGnome panel to whole PGnome).

Indications for Test

This panel is recommended for patients with syndromic or nonsyndromic intellectual disability, and a family history indicating X-linked inheritance. Fragile X repeat expansion testing is recommended in addition to this test.


Official Gene Symbol OMIM ID
ABCD1 300371
ACSL4 300157
AFF2 300806
AGTR2 300034
AIFM1 300169
ALG13 300776
AMMECR1 300195
AP1S2 300629
ARHGEF6 300267
ARHGEF9 300429
ARSL 300180
ARX 300382
ATP6AP2 300556
ATP7A 300011
ATRX 300032
BCAP31 300398
BCOR 300485
BCORL1 300688
BRWD3 300553
CASK 300172
CCDC22 300859
CDK16 311550
CDKL5 300203
CLCN4 302910
CNKSR2 300724
CUL4B 300304
DCX 300121
DDX3X 300160
DKC1 300126
DLG3 300189
DMD 300377
EBP 300205
EIF2S3 300161
FAAH2 300654
FAM50A 300453
FANCB 300515
FGD1 300546
FLNA 300017
FMR1 309550
FRMPD4 300838
FTSJ1 300499
GDI1 300104
GK 300474
GPC3 300037
GPKOW 301003
GRIA3 305915
GRIPAP1 300408
HCCS 300056
HCFC1 300019
HDAC6 300272
HDAC8 300269
HMGB3 300193
HNRNPH2 300610
HPRT1 308000
HSD17B10 300256
HUWE1 300697
IDS 300823
IGBP1 300139
IKBKG 300248
IL1RAPL1 300206
IQSEC2 300522
KDM5C 314690
KDM6A 300128
KIF4A 300521
KLF8 300286
KLHL15 300980
L1CAM 308840
LAMP2 309060
LAS1L 300964
MAOA 309850
MBTPS2 300294
MECP2 300005
MED12 300188
MID1 300552
MID2 300204
MSL3 300609
MTM1 300415
NAA10 300013
NDP 300658
NDUFA1 300078
NEXMIF 300524
NHS 300457
NLGN3 300336
NLGN4X 300427
NONO 300084
NSDHL 300275
OCRL 300535
OFD1 300170
OGT 300255
OPHN1 300127
OTC 300461
PAK3 300142
PCDH19 300460
PDHA1 300502
PGK1 311800
PHF6 300414
PHF8 300560
PIGA 311770
PLP1 300401
POLA1 312040
PORCN 300651
PQBP1 300463
PRPS1 311850
PTCHD1 300828
RAB39B 300774
RBM10 300080
RLIM 300379
RNF113A 300951
RPL10 312173
RPS6KA3 300075
SHROOM4 300579
SLC16A2 300095
SLC35A2 314375
SLC6A8 300036
SLC9A6 300231
SLC9A7 300368
SMC1A 300040
SMS 300105
SOX3 313430
SRPX2 300642
SSR4 300090
STAG2 300826
STEEP1 301012
SYN1 313440
SYP 313475
TAF1 313650
THOC2 300395
TIMM8A 300356
TMLHE 300777
TSPAN7 300096
UBE2A 312180
UPF3B 300298
USP27X 300975
USP9X 300072
WDR45 300526
ZC4H2 300897
ZDHHC9 300646
ZFP92 0
ZMYM3 300061
ZNF674 300573
ZNF711 314990
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
2-Methyl-3-Hydroxybutyric Aciduria XL 300438
Aarskog Syndrome XL 305400
Adrenoleukodystrophy XL 300100
Allan-Herndon-Dudley Syndrome XL 300523
Alpha-Thalassemia Myelodysplasia Syndrome XL 300448
Arts Syndrome XL 301835
Asperger Syndrome, X-Linked, Susceptibility To, 1 XL 300494
Asperger Syndrome, X-Linked, Susceptibility To, 2 XL 300497
ATR-X Syndrome XL 301040
Autism, Susceptibility To, X-Linked 1 XL 300425
Autism, Susceptibility To, X-Linked 2 XL 300495
Autism, Susceptibility To, X-Linked 3 XL 300496
Autism, Susceptibility to, X-linked 4 XL 300830
Autism, Susceptibility To, X-Linked 5 XL 300847
Autism, Susceptibility to, X-linked 6 XL 300872
Becker Muscular Dystrophy XL 300376
Borjeson-Forssman-Lehmann Syndrome XL 301900
Cardiac Valvular Dysplasia, X-Linked XL 314400
Cardiomyopathy, Dilated, 3B XL 302045
Cataract, Congenital, X-Linked XL 302200
Cerebral Creatine Deficiency Syndrome 1 XL 300352
Charcot-Marie-Tooth Disease, X-Linked Recessive, Type 5 XL 311070
Child Syndrome XL 308050
Chondrodysplasia Punctata 1, X-Linked Recessive XL 302950
Chondrodysplasia Punctata 2 X-Linked Dominant XL 302960
Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia XL 300863
CK syndrome XL 300831
Coffin-Lowry Syndrome XL 303600
Combined Oxidative Phosphorylation Deficiency 6 XL 300816
Congenital Disorder of Glycosylation Type IIm XL 300896
Congenital Disorder of Glycosylation Type Iy XL 300934
Cornelia de Lange syndrome 2 XL 300590
Cornelia de Lange syndrome 5 XL 300882
Corpus Callosum, Agenesis Of, With Mental Retardation, Ocular Coloboma, And Micrognathia XL 300472
Corpus Callosum, Partial Agenesis Of, X-Linked XL 304100
Cowchock Syndrome XL 310490
Danon Disease XL 300257
Deafness, Dystonia, and Cerebral Hypomyelination XL 300475
Deafness, X-Linked 1 XL 304500
Deafness, X-Linked 5 XL 300614
Dent Disease 2 XL 300555
Duchenne Muscular Dystrophy XL 310200
Dyskeratosis Congenita X-Linked XL 305000
Dystonia 3, Torsion, X-Linked XL 314250
Ectodermal Dysplasia, Anhidrotic, With Immunodeficiency, Osteopetrosis, And Lymphedema XL 300301
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations XL 300673
Epilepsy, X-Linked, With Variable Learning Disabilities And Behavior Disorders XL 300491
Epileptic encephalopathy, early infantile, 1 XL 308350
Epileptic Encephalopathy, Early Infantile, 2 XL 300672
Epileptic Encephalopathy, Early Infantile, 36 XL 300884
Epileptic Encephalopathy, Early Infantile, 8 XL 300607
Epileptic Encephalopathy, Early Infantile, 9 XL 300088
Exudative Vitreoretinopathy 2, X-Linked XL 305390
Fanconi Anemia, Complementation Group B XL 300514
Fg Syndrome XL 305450
FG Syndrome 2 XL 300321
FG Syndrome 4 XL 300422
Focal Dermal Hypoplasia XL 305600
Fragile X Syndrome XL 300624
Fragile X Tremor/Ataxia Syndrome XL 300623
Frontometaphyseal Dysplasia XL 305620
Glycerol Kinase Deficiency XL 307030
Gout, HPRT-Related XL 300323
Hypohidrotic Ectodermal Dysplasia With Immune Deficiency XL 300291
Ichthyosis Follicularis Atrichia Photophobia Syndrome XL 308205
Immunodeficiency Without Anhidrotic Ectodermal Dysplasia XL 300584
Incontinentia Pigmenti XL 308300
Intellectual developmental disorder, X-linked 108 XL 301024
Intellectual developmental disorder, X-linked, syndromic, Armfield type XL 300261
Intestinal Pseudoobstruction Neuronal Chronic Idiopathic X-Linked XL 300048
Invasive Pneumococcal Disease, Recurrent Isolated, 2 XL 300640
Joubert Syndrome 10 XL 300804
Kabuki Syndrome 2 XL 300867
Keratosis Follicularis Spinulosa Decalvans XL 308800
Lenz Microphthalmia Syndrome XL 309800
Lesch-Lyhan Syndrome XL 300322
Lowe Syndrome XL 309000
Lujan-Fryns Syndrome XL 309520
MASA Syndrome XL 303350
MECP2 Duplication Syndrome XL 300260
MEHMO Syndrome XL 300148
Melnick-Needles Syndrome XL 309350
MEND Syndrome XL 300960
Menkes Kinky-Hair Syndrome XL 309400
Mental Retardation 105 XL 300984
Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia XL 300749
Mental Retardation, X-Linked 1/78 XL 309530
Mental Retardation, X-linked 100 XL 300923
Mental Retardation, X-linked 101 XL 300928
Mental Retardation, X-Linked 102 XL 300958
Mental Retardation, X-linked 103 XL 300982
Mental Retardation, X-linked 104 XL 300983
Mental retardation, X-linked 106 XL 300997
Mental retardation, X-linked 107 XL 301013
Mental Retardation, X-linked 12/35 XL 300957
Mental Retardation, X-Linked 19 XL 300844
Mental Retardation, X-Linked 21 XL 300143
Mental Retardation, X-Linked 3 (Methylmalonic Acidemia and Homocysteinemia, cblX Type) XL 309541
Mental Retardation, X-Linked 30 XL 300558
Mental Retardation, X-Linked 41 XL 300849
Mental Retardation, X-Linked 46 XL 300436
Mental Retardation, X-linked 49 XL 300114
Mental Retardation, X-Linked 58 XL 300210
Mental Retardation, X-linked 61 XL 300978
Mental Retardation, X-Linked 63 XL 300387
Mental Retardation, X-Linked 72 XL 300271
Mental Retardation, X-Linked 9 XL 309549
Mental Retardation, X-Linked 90 XL 300850
Mental Retardation, X-Linked 93 XL 300659
Mental Retardation, X-Linked 96 XL 300802
Mental Retardation, X-Linked 97 XL 300803
Mental Retardation, X-linked 98 XL 300912
Mental Retardation, X-linked 99 XL 300919
Mental retardation, X-linked 99, Syndromic, Female-Restricted XL 300968
Mental retardation, X-linked syndromic, Turner type XL 309590
Mental Retardation, X-linked, FRAXE Type XL 309548
Mental Retardation, X-Linked, Syndromic 10 XL 300220
Mental Retardation, X-Linked, Syndromic 13 XL 300055
Mental Retardation, X-Linked, Syndromic 14 XL 300676
Mental Retardation, X-linked, Syndromic 33 XL 300966
Mental Retardation, X-linked, Syndromic 34 XL 300967
Mental Retardation, X-linked, Syndromic, 35 XL 300998
Mental Retardation, X-linked, Syndromic, Bain Type XL 300986
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, Houge type XL 301008
Mental Retardation, X-Linked, Syndromic, Nascimento Type XL 300860
Mental Retardation, X-Linked, Syndromic, Raymond Type XL 300799
Mental Retardation, X-Linked, Syndromic, Wu Type XL 300699
Mental Retardation, X-Linked, With Or Without Seizures, Arx-Related XL 300419
Mental Retardation, X-Linked, With Panhypopituitarism XL 300123
Mental Retardation, X-Linked, With Short Stature, Hypogonadism, And Abnormal Gait XL 300354
Mental Retardation-Hypotonic Facies Syndrome X-Linked, 1 XL 309580
Microphthalmia Syndromic 7 XL 309801
Microphthalmia, Syndromic 13 XL 300915
Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis XL 300990
Mitochondrial complex I deficiency, nuclear type 12 XL 301020
Mohr-Tranebjaerg Syndrome XL 304700
Monoamine Oxidase A Deficiency XL 300615
Mucopolysaccharidosis, MPS-II XL 309900
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 XL 300868
Nance-Horan Syndrome XL 302350
Neurodegeneration With Brain Iron Accumulation 5 XL 300894
Neurodevelopmental disorder, X-linked, with craniofacial abnormalities XL 301022
Norrie Disease XL 310600
Occipital Horn Syndrome XL 304150
Oculofaciocardiodental Syndrome XL 300166
Ogden Syndrome XL 300855
OHDO Syndrome, X-linked; OHDOX XL 300895
Olmsted syndrome, X-linked XL 300918
Opitz G/BBB Syndrome, Type I XL 300000
Oral-Facial-Digital Syndrome XL 311200
Ornithine Carbamoyltransferase Deficiency XL 311250
Osteogenesis imperfecta, type XIX XL 301014
Oto-Palato-Digital Syndrome Type 1 XL 311300
Oto-Palato-Digital Syndrome, Type II XL 304120
Panhypopituitarism X-Linked XL 312000
Parkinsonism with Spasticity, X-Linked XL 300911
Paroxysmal Nocturnal Hemoglobinuria XL 300818
Partington X-Linked Mental Retardation Syndrome XL 309510
Pelizaeus-Merzbacher Disease XL 312080
Pettigrew Syndrome XL 304340
Phosphoglycerate Kinase 1 Deficiency XL 300653
Phosphoribosylpyrophosphate Synthetase Superactivity XL 300661
Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-linked XL 301220
Premature Ovarian Failure XL 311360
Proud Levine Carpenter Syndrome XL 300004
Pyruvate Dehydrogenase E1-Alpha Deficiency XL 312170
Renpenning Syndrome 1 XL 309500
Retinitis Pigmentosa 23 XL 300424
Rett Syndrome XL 312750
Ritscher-Schinzel Syndrome 2 XL 300963
Severe X-Linked Myotubular Myopathy XL 310400
Siderius X-Linked Mental Retardation Syndrome XL 300263
Simpson-Golabi-Behmel Syndrome XL 312870
Simpson-Golabi-Behmel Syndrome, Type 2 XL 300209
Snyder Robinson Syndrome XL 309583
Spastic Paraplegia 2 XL 312920
Spinal Muscular Atrophy, Distal, X-Linked 3 XL 300489
Stocco Dos Santos Syndrome XL 300434
TARP Syndrome XL 311900
Terminal Osseous Dysplasia XL 300244
Trichothiodystrophy 5, nonphotosensitive XL 300953
Waisman Syndrome XL 311510
Wieacker-Wolff Syndrome XL 314580
Wilms' Tumor AD 194070
Wilson-Turner syndrome XL 309585
X-Linked Familial Atypical Mycobacteriosis, Type 1 XL 300636
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

Related Test



  • Chiurazzi and Pirozzi. 2016. PubMed ID: 27127621
  • de Brouwer et al. 2007. PubMed ID: 17221867
  • Dibbens et al. 2008. PubMed ID: 18469813
  • Fieremans et al. 2016. PubMed ID: 27159028
  • Franco et al. 2006. PubMed ID: 16650755
  • Hu et al. 2016. PubMed ID: 25644381
  • Human Gene Mutation Database (Bio-base).
  • Kaufman et al. 2010. PubMed ID: 21124998
  • Lubs et al. 2012. PubMed ID: 22482801
  • Neri et al. 2018. PubMed ID: 29696803
  • Plenge et al. 2002. PubMed ID: 12068376
  • Tzschach et al. 2015. PubMed ID: 25649377
  • Vissers et al. 2016. PubMed ID: 26503795


Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

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.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

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

If ordering a Duo or Trio test, the proband and all comparator samples are required to initiate testing. If we do not receive all required samples for the test ordered within 21 days, we will convert the order to the most effective testing strategy with the samples available. Prior authorization and/or billing in place may be impacted by a change in test code.

Specimen Types

Specimen Requirements and Shipping Details

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

loading Loading... ×


An error has occurred while calculating the price. Please try again or contact us for assistance.

View Ordering Instructions

1) Select Test Method (Platform)

1) Select Test Type

2) Select Additional Test Options

No Additional Test Options are available for this test.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
Total Price: loading
Patient Prompt Pay Price: loading
A patient prompt pay discount is available if payment is made by the patient and received prior to the time of reporting.
Show Patient Prompt Pay Price
Copy Text to Clipboard