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Autism Spectrum Disorders Sequencing Panel with CNV Detection

  • Summary and Pricing
  • Clinical Features and Genetics
  • Citations
  • Methods
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TEST METHODS

Sequencing with CNV

Test Code Test Copy GenesCPT Code Copy CPT Codes
5061 ABCA7 81479,81479 Add to Order
ADNP 81479,81479
ADSL 81479,81479
ANK2 81479,81479
ANKRD11 81479,81479
ARID1B 81479,81479
ARX 81404,81403
ASH1L 81479,81479
ASXL3 81479,81479
AUTS2 81479,81479
BCKDK 81479,81479
BCL11A 81479,81479
BRAF 81406,81479
C12orf57 81479,81479
CACNA1C 81479,81479
CACNA2D3 81479,81479
CC2D1A 81479,81479
CDC42BPB 81479,81479
CDKL5 81406,81405
CHD2 81479,81479
CHD7 81407,81479
CHD8 81479,81479
CNTN5 81479,81479
CNTN6 81479,81479
CNTNAP2 81406,81479
CSMD1 81479,81479
CTNND2 81479,81479
CTTNBP2 81479,81479
CUL3 81479,81479
DEAF1 81479,81479
DGAT2L6 81479,81479
DHCR7 81405,81479
DISC1 81479,81479
DSCAM 81479,81479
DYRK1A 81479,81479
EFR3A 81479,81479
EHMT1 81479,81479
FMR1 81479,81479
FOLR1 81479,81479
FOXG1 81404,81479
FOXP1 81479,81479
GABRB3 81479,81479
GAMT 81479,81479
GATM 81479,81479
GRIN2B 81479,81479
GRIP1 81479,81479
HCN1 81479,81479
HOXA1 81479,81479
KAT2B 81479,81479
KATNAL2 81479,81479
KCNQ3 81479,81479
KMT2A 81479,81479
KMT5B 81479,81479
KRAS 81405,81479
MAGEL2 81479,81479
MAOA 81479,81479
MBD5 81479,81479
MBD6 81479,81479
MECP2 81302,81304
MED13L 81479,81479
MFRP 81479,81479
MYO9B 81479,81479
MYT1L 81479,81479
NAA15 81479,81479
NDP 81404,81403
NEXMIF 81479,81479
NFIX 81479,81479
NLGN3 81405,81479
NLGN4X 81405,81404
NRXN1 81479,81479
NSD1 81406,81405
PACS1 81479,81479
PCDH19 81405,81479
POGZ 81479,81479
POMGNT1 81406,81479
PQBP1 81405,81404
PTCHD1 81479,81479
PTEN 81321,81323
RAB39B 81479,81479
RAD21 81479,81479
RAI1 81405,81479
RELN 81479,81479
SCN1A 81407,81479
SCN2A 81479,81479
SETD5 81479,81479
SGSH 81479,81479
SHANK2 81479,81479
SHANK3 81479,81479
SLC6A1 81479,81479
SLC9A6 81406,81479
SMAD4 81406,81405
SPAST 81406,81405
STXBP1 81406,81479
STXBP5 81479,81479
SYN2 81479,81479
TBC1D20 81479,81479
TBR1 81479,81479
TCF20 81479,81479
TCF4 81406,81405
TNRC6B 81479,81479
TSC1 81406,81405
TSC2 81407,81406
UBE3A 81406,81479
UPF3B 81479,81479
VPS13B 81408,81407
WDFY3 81479,81479
ZMYND11 81479,81479
ZNF407 81479,81479
Full Panel Price* $1240
Test Code Test Copy Genes Total Price CPT Codes Copy CPT Codes
5061 Genes x (108) $1240 81302, 81304, 81321, 81323, 81403(x2), 81404(x5), 81405(x13), 81406(x13), 81407(x4), 81408, 81479(x174) Add to Order

New York State Approved Test

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.

Targeted Testing

For ordering sequencing of targeted known variants, please proceed to our Targeted Variants landing page.

Turnaround Time

The great majority of tests are completed within 26 days.

Clinical Sensitivity

Genetic evaluation of Autism Spectrum Disorder (ASD) patients is estimated to identify a cause in up to 40% of cases. The combined diagnostic yield of chromosomal microarray testing and FMR1 CGG-repeat expansion testing is approximately 11%-15% (Schaefer and Mendelsohn. 2013. PubMed ID: 23519317). The role of nucleotide substitutions and small insertions/deletions in autism-related genes is less clear, but may be as high at 15%, depending on the penetrance of the candidates (Schaefer and Mendelsohn. 2013. PubMed ID: 23519317; Casanova et al. 2016. PubMed ID: 26985359). To date, almost 1,000 genes have documented associations with ASD. It has been reported that nearly 60% of the total variation occurs in approximately 200 genes each of which have several ASD-associated variants (Stenson et al. 2014. PubMed ID: 24077912).

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Clinical Features

Autism Spectrum Disorder (ASD) includes several neurodevelopmental disorders characterized by varying degrees of social impairment, communication ability, and propensity for repetitive behavior(s) and restricted interests (Levy et al. 2009. PubMed ID: 19819542). ASD symptoms usually present by age 3, and diagnosis is based on the degree and severity of symptoms and behaviors (Diagnostic and Statistical Manual of Mental Disorders (DSM-5); McPartland et al. 2016). Comorbidities occur in more than 70% of ASD cases and include intellectual disability, epilepsy, language deficits, and gastrointestinal problems (Sztainberg and Zoghbi. 2016. PubMed ID: 27786181). ASDs are subdivided into nonsyndromic 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 variable 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, with estimates ranging between 50-90% based on investigations of de novo variants, copy number variants (CNVs), and variants readily detectable by sequencing from several hundred autosomal and X-linked genes (Hoang et al. 2017. PubMed ID: 28803755; Larsen et al. 2016. PubMed ID: 27790361; Gaugler et al. 2014. PubMed ID: 25038753; Sandin et al. 2014. PubMed ID: 24794370). Incidence of ASD is approximately 1 in 68 individuals with a male-to-female ratio of 4:1 (Autism and Developmental Disabilities Monitoring Network Surveillance Year 2010 Principle Investigators 2014. PubMed ID: 24670961). Concordance is as high as 70% in monozygotic twins and familial recurrence rates of 7% if the first affected child is female and 4% if first affected child is male (Schaefer and Mendelsohn. 2008. PubMed ID: 18197051). However, clinical heterogeneity in expression has been reported between and within families (including identical twins) (Hoang et al. 2017. PubMed ID: 28803755).

Copy number variant (CNV) testing and FMR1 CGG-repeat expansion testing are recommended as the first tier of testing for ASD diagnoses. Clinically-significant CNVs (familial and de novo) observed at particular loci have been reported at increased frequency in ASD patients and ASD is a well-established expanded phenotype of fragile X syndrome (Schaefer and Mendelsohn. 2013. PubMed ID: 23519317; Mefford et al. 2008. PubMed ID: 18784092; Weiss et al. 2008. PubMed ID: 18184952). Individual causal genes or etiologies are well established for most syndromic ASDs, but less certain for nonsyndromic ASDs (Sztainberg and Zoghbi. 2016. PubMed ID: 27786181). De novo nucleotide subsitutions and small inertions/deletions are 6.7% more frequent in ASD subjects than controls (Sanders et al. 2012. PubMed ID: 22495306; O'Roak et al. 2012. PubMed ID: 22495309; Iossifov et al. 2012. PubMed ID: 22542183), and the recurrence of rare variants in a particular gene is considered strong evidence for its causal link to ASD (De Rubeis et al. 2014. PubMed ID: 25363760). The ASD-NGS panel includes 108 genes, 70 of which have been classified as either syndromic, high confidence, or strong ASD gene candidates within the Simons Foundation Autism Research Initiative Gene Database (https://sfari.org/resources/sfari-gene). The remaining 38 genes have either literature reports or suggestive evidence/syndromic associations with ASD.

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

Testing Strategy

For this Next Generation Sequencing (NGS) test, sequencing is accomplished by capturing specific regions with an optimized solution-based hybridization kit, followed by massively parallel sequencing of the captured DNA fragments.

For Sanger sequencing, polymerase chain reaction (PCR) is used to amplify targeted regions. After purification of the PCR products, cycle sequencing is carried out using the ABI Big Dye Terminator v.3.0 kit. PCR products are resolved by electrophoresis on an ABI 3730xl capillary sequencer. In nearly all cases, cycle sequencing is performed separately in both the forward and reverse directions.

Copy number variants (CNVs) are also detected from NGS data. We utilize a CNV calling algorithm that compares mean read depth and distribution for each target in the test sample against multiple matched controls. Neighboring target read depth and distribution and zygosity of any variants within each target region are used to reinforce CNV calls. All CNVs are confirmed using another technology such as aCGH, MLPA, or PCR before they are reported.

This panel typically provides >98.4% 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 at >20x NGS reads or Sanger sequencing.

Genes without complete coverage: ANKRD11 (NM_013275, x9 and x13), BRAF (NM_004333, x18), FOLR1 (NM_016724, x5-x7), MYT1L (NM_001303052, x20), RAD21 (NM_006265.2, x14), SHANK2 (NM_012309.4, x8-x9), VPS13B (NM_017890, x40).

Since this test is performed using exome capture probes, a reflex to any of our exome-based tests is available (i.e. Autism Spectrum Disorders/Intellectual Disability Comprehensive Panel (ASD-ID), PGxome™, PGxome Custom Panels).

Indications for Test

Individuals at least 3 years of age with an ASD diagnosis with or without a convincing syndromic clinical phenotype are good candidates for this test. Individuals are encouraged to perform FMR1 CGG repeat expansion testing (particularly males) and then as necessary, CNV testing concurrent with sequence analysis.

Genes

Official Gene Symbol OMIM ID
ABCA7 605414
ADNP 611386
ADSL 608222
ANK2 106410
ANKRD11 611192
ARID1B 614556
ARX 300382
ASH1L 607999
ASXL3 615115
AUTS2 607270
BCKDK 614901
BCL11A 606557
BRAF 164757
C12orf57 615140
CACNA1C 114205
CACNA2D3 606399
CC2D1A 610055
CDC42BPB 614062
CDKL5 300203
CHD2 602119
CHD7 608892
CHD8 610528
CNTN5 607219
CNTN6 607220
CNTNAP2 604569
CSMD1 608397
CTNND2 604275
CTTNBP2 609772
CUL3 603136
DEAF1 602635
DGAT2L6 300926
DHCR7 602858
DISC1 605210
DSCAM 602523
DYRK1A 600855
EFR3A 611798
EHMT1 607001
FMR1 309550
FOLR1 136430
FOXG1 164874
FOXP1 605515
GABRB3 137192
GAMT 601240
GATM 602360
GRIN2B 138252
GRIP1 604597
HCN1 602780
HOXA1 142955
KAT2B 602303
KATNAL2 614697
KCNQ3 602232
KMT2A 159555
KMT5B 610881
KRAS 190070
MAGEL2 605283
MAOA 309850
MBD5 611472
MBD6 0
MECP2 300005
MED13L 608771
MFRP 606227
MYO9B 602129
MYT1L 613084
NAA15 608000
NDP 300658
NEXMIF 300524
NFIX 164005
NLGN3 300336
NLGN4X 300427
NRXN1 600565
NSD1 606681
PACS1 607492
PCDH19 300460
POGZ 614787
POMGNT1 606822
PQBP1 300463
PTCHD1 300828
PTEN 601728
RAB39B 300774
RAD21 606462
RAI1 607642
RELN 600514
SCN1A 182389
SCN2A 182390
SETD5 615743
SGSH 605270
SHANK2 603290
SHANK3 606230
SLC6A1 137165
SLC9A6 300231
SMAD4 600993
SPAST 604277
STXBP1 602926
STXBP5 604586
SYN2 600755
TBC1D20 611663
TBR1 604616
TCF20 603107
TCF4 602272
TNRC6B 610740
TSC1 605284
TSC2 191092
UBE3A 601623
UPF3B 300298
VPS13B 607817
WDFY3 617485
ZMYND11 608668
ZNF407 615894
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
Alzheimer Disease 9, Susceptibility to AD 608907
Angelman Syndrome 105830
Asperger Syndrome, X-Linked, Susceptibility To, 1 XL 300494
Asperger Syndrome, X-Linked, Susceptibility To, 2 XL 300497
Athabaskan Brainstem Dysgenesis AR 601536
Autism 15 AD 612100
Autism 17 AD 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 XL 300495
Autism, Susceptibility To, X-Linked 3 XL 300496
Autism, Susceptibility to, X-linked 4 XL 300830
Bainbridge-Ropers Syndrome AD 615485
Benign Familial Neonatal-Infantile Seizures AD 607745
Branched-chain ketoacid dehydrogenase kinase deficiency AR 614923
Cardio-Facio-Cutaneous Syndrome AD 115150
Cerebral Folate Deficiency AR 613068
CHARGE Association AD 214800
Chromosome 9Q Deletion Syndrome AD 610253
Coffin-Siris Syndrome 1 AD 135900
Cohen Syndrome AR 216550
Cornelia de Lange syndrome 4 AD 614701
Cortical Dysplasia-Focal Epilepsy Syndrome AR 610042
Deficiency Of Guanidinoacetate Methyltransferase AR 612736
Dias-Logan Syndrome AD 617101
Dyskinesia, Seizures, and Intellectual Developmental Disorder AR 617171
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, 2 XL 300672
Epileptic Encephalopathy, Early Infantile, 24 AD 615871
Epileptic Encephalopathy, Early Infantile, 27 AD 616139
Epileptic Encephalopathy, Early Infantile, 4 AD 612164
Epileptic Encephalopathy, Early Infantile, 43 AD 617113
Epileptic Encephalopathy, Early Infantile, 9 XL 300088
Fragile X Syndrome XL 300624
Fraser Syndrome 3 AR 617667
Generalized Epilepsy With Febrile Seizures Plus, Type 2 AD 604403
Helsmoortel-van der Aa Syndrome AD 615873
KBG Syndrome AD 148050
LEOPARD Syndrome 3 AD 613707
Lissencephaly 2 AR 257320
Long QT Syndrome 4 AD 600919
Macrocephaly/Autism Syndrome AD 605309
Marshall-Smith Syndrome AD 602535
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects AD 616789
Mental Retardation With Language Impairment And Autistic Features AD 613670
Mental Retardation, Autosomal Dominant 1 AD 156200
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 30 AD 616083
Mental Retardation, Autosomal Dominant 39 AD 616521
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 6 AD 613970
Mental Retardation, Autosomal Dominant 7 AD 614104
Mental Retardation, Autosomal Recessive 3 AR 608443
Mental Retardation, X-Linked 72 XL 300271
Mental Retardation, X-linked 98 XL 300912
Mental Retardation, X-Linked, Syndromic 14 XL 300676
Mental Retardation, X-Linked, Syndromic, Christianson Type XL 300243
Mental Retardation, X-Linked, With Or Without Seizures, Arx-Related XL 300419
Microcephaly 18, Primary, Autosomal Dominant AD 617520
Microphthalmia, Isolated 5 AR 611040
Monoamine Oxidase A Deficiency XL 300615
Mucopolysaccharidosis, MPS-III-A AR 252900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Mental Retardation), Type B, 3 AR 613151
Myhre Syndrome AD 139210
Myoclonic-Atonic Epilepsy AD 616421
Noonan Syndrome 3 AD 609942
Norrie Disease XL 310600
Phelan-Mcdermid Syndrome AD 606232
Pitt-Hopkins Syndrome AD 610954
Pitt-Hopkins-like syndrome 2 AR 614325
Pseudohypoaldosteronism, type IIE AD 614496
RAS-Associated Autoimmune Leukoproliferative Disorder AD 614470
Renpenning Syndrome 1 XL 309500
Rett Syndrome XL 312750
Rett Syndrome, Congenital Variant AD 613454
Schaaf-Yang Syndrome AD 615547
Schizophrenia AD 181500
Schizophrenia 9 AD 604906
Schuurs-Hoeijmakers Syndrome AD 615009
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
Sotos' Syndrome AD 117550
Spastic Paraplegia 4 AD 182601
Temtamy Syndrome AR 218340
Timothy Syndrome AD 601005
Tuberous Sclerosis 1 AD 191100
Tuberous Sclerosis 2 AD 613254
Warburg Micro Syndrome 4 AR 615663
White-Sutton Syndrome AD 616364
Wiedemann-Steiner Syndrome AD 605130

Related Test

Name
PGxome®

CONTACTS

Genetic Counselors
Geneticist
Citations
  • Autism and Developmental Disabilities Monitoring Network Surveillance Year 2010 Principle Investigators 2014. PubMed ID: 24670961
  • Casanova et al. 2016. PubMed ID: 26985359
  • De Rubeis et al. 2014. PubMed ID: 25363760
  • Gaugler et al. 2014. PubMed ID: 25038753
  • Hoang et al. 2017. PubMed ID: 28803755
  • Iossifov et al. 2012. PubMed ID: 22542183
  • Larsen et al. 2016. PubMed ID: 27790361
  • Levy et al. 2009. PubMed ID: 19819542
  • McPartland et al. 2016. Encyclopedia of Mental Health. 2: 124-130.
  • Mefford et al. 2008. PubMed ID: 18784092
  • O'Roak et al. 2012. PubMed ID: 22495309
  • Sanders et al. 2012. PubMed ID: 22495306
  • Sandin et al. 2014. PubMed ID: 24794370
  • Schaefer and Mendelsohn. 2008. PubMed ID: 18197051
  • Schaefer and Mendelsohn. 2013. PubMed ID: 23519317
  • Stenson et al. 2014. PubMed ID: 24077912
  • Sztainberg and Zoghbi. 2016. PubMed ID: 27786181
  • Weiss et al. 2008. PubMed ID: 18184952
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TEST METHODS

Exome Sequencing with CNV Detection

Test Procedure

For PGxome® we use Next Generation Sequencing (NGS) technologies to cover the coding regions of targeted genes plus 10 bases of flanking non-coding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. As required, genomic DNA is extracted from patient specimens. Patient DNA corresponding to these regions is captured using Agilent Clinical Research Exome hybridization probes. Captured DNA is sequenced on the NovaSeq 6000 using 2x150 bp paired-end reads (Illumina, San Diego, CA, USA). The following quality control metrics are generally achieved: >97% of target bases are covered at >20x, and mean coverage of target bases >120x. Data analysis and interpretation is performed by the internally developed software Titanium-Exome. In brief, the output data from the NovaSeq 6000 is converted to fastqs by Illumina Bcl2Fastq, and mapped by BWA. Variant calls are made by the GATK Haplotype caller and annotated using in house software and SnpEff. Variants are filtered and annotated using VarSeq (www.goldenhelix.com).

For Sanger sequencing, polymerase chain reaction (PCR) is used to amplify targeted regions. After purification of the PCR products, cycle sequencing is carried out using the ABI Big Dye Terminator v.3.0 kit. PCR products are resolved by electrophoresis on an ABI 3730xl capillary sequencer. In nearly all cases, cycle sequencing is performed separately in both the forward and reverse directions.

Copy number variants (CNVs) are also detected from NGS data. We utilize a CNV calling algorithm that compares mean read depth and distribution for each target in the test sample against multiple matched controls. Neighboring target read depth and distribution and zygosity of any variants within each target region are used to reinforce CNV calls. All CNVs are confirmed using another technology such as aCGH, MLPA, or PCR before they are reported.

Analytical Validity

NextGen Sequencing: As of March 2016, 6.36 Mb of sequence (83 genes, 1557 exons) generated in our lab was compared between Sanger and NextGen methodologies. We detected no differences between the two methods. The comparison involved 6400 total sequence variants (differences from the reference sequences). Of these, 6144 were nucleotide substitutions and 256 were insertions or deletions. About 65% of the variants were heterozygous and 35% homozygous. The insertions and deletions ranged in length from 1 to over 100 nucleotides.

In silico validation of insertions and deletions in 20 replicates of 5 genes was also performed. The validation included insertions and deletions of lengths between 1 and 100 nucleotides. Insertions tested in silico: 2200 between 1 and 5 nucleotides, 625 between 6 and 10 nucleotides, 29 between 11 and 20 nucleotides, 25 between 21 and 49 nucleotides, and 23 at or greater than 50 nucleotides, with the largest at 98 nucleotides. All insertions were detected. Deletions tested in silico: 1813 between 1 and 5 nucleotides, 97 between 6 and 10 nucleotides, 32 between 11 and 20 nucleotides, 20 between 21 and 49 nucleotides, and 39 at or greater than 50 nucleotides, with the largest at 96 nucleotides. All deletions less than 50 nucleotides in length were detected, 13 greater than 50 nucleotides in length were missed. Our standard NextGen sequence variant calling algorithms are generally not capable of detecting insertions (duplications) or heterozygous deletions greater than 100 nucleotides. Large homozygous deletions appear to be detectable.

Copy Number Variant Analysis: The PGxome test detects most larger deletions and duplications including intragenic CNVs and large cytogenetic events; however aberrations in a small percentage of regions may not be accurately detected due to sequence paralogy (e.g., pseudogenes, segmental duplications), sequence properties, deletion/duplication size (e.g., 1-3 exons vs. 4 or more exons), and inadequate coverage. In general, sensitivity for single, double, or triple exon CNVs is ~70% and for CNVs of four exon size or larger is >95%, but may vary from gene-to-gene based on exon size, depth of coverage, and characteristics of the region.

Analytical Limitations

Interpretation of the test results is limited by the information that is currently available. Better interpretation should be possible in the future as more data and knowledge about human genetics and this specific disorder are accumulated.

When sequencing does not reveal any heterozygous differences from the reference sequence, we cannot be certain that we were able to detect both patient alleles.

For technical reasons, the PGxome test is not 100% sensitive. Some exons cannot be efficiently captured, and some genes cannot be accurately sequenced because of the presence of multiple copies in the genome. Therefore, a small fraction of sequence variants will not be detected.

We sequence coding exons for all available transcripts plus 10 bp of flanking non-coding DNA for each exon. We also sequence other regions within or near genes in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere.  Unless specifically indicated, test reports contain no information about other portions of genes.

In most cases, we are unable to determine the phase of sequence variants. In particular, when we find two likely causative mutations for recessive disorders, we cannot be certain that the mutations are on different alleles.

Our ability to detect minor sequence variants due to somatic mosaicism is limited. Sequence variants that are present in less than 50% of the patient's nucleated cells may not be detected.

Runs of mononucleotide repeats (eg (A)n or (T)n) with n >8 in the reference sequence are generally not analyzed because of strand slippage during amplification.

Unless otherwise indicated, DNA sequence data is obtained from a specific cell-type (usually leukocytes if taken from whole blood). Test reports contain no information about the DNA sequence in other cell-types.

We cannot be certain that the reference sequences are correct.

Balanced translocations or inversions are only rarely detected.

Certain types of sex chromosome aneuploidy may not be detected.  

Our ability to detect CNVs due to somatic mosaicism is limited.

We have confidence in our ability to track a specimen once it has been received by PreventionGenetics. However, we take no responsibility for any specimen labeling errors that occur before the sample arrives at PreventionGenetics.

A negative finding does not rule out a genetic diagnosis.

Genetic counseling to help to explain test results to the patients and to discuss reproductive options is recommended.

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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.

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