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Early Infantile Epileptic Encephalopathy Sequencing Panel

  • Summary and Pricing
  • Clinical Features and Genetics
  • Citations
  • Methods
  • Ordering/Specimens
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TEST METHODS

NGS Sequencing

Test Code Test Copy GenesCPT Code Copy CPT Codes
1961 ACY1 81479 Add to Order
ADSL 81479
ALDH7A1 81406
ARFGEF2 81479
ARHGEF9 81479
ARX 81404
BCKDK 81479
CDKL5 81406
CHD2 81479
CHRNA2 81479
CHRNA4 81405
CHRNB2 81405
CLN3 81479
CLN5 81479
CLN6 81479
CLN8 81479
CNTNAP2 81406
CSTB 81404
CTSD 81479
CTSF 81479
DEPDC5 81479
EPM2A 81404
FARS2 81479
FOLR1 81479
FOXG1 81404
GABRA1 81479
GABRB3 81479
GABRG2 81405
GAMT 81479
GNAO1 81479
GOSR2 81479
GRIN2A 81479
HCN1 81479
KCNA2 81479
KCNB1 81479
KCNJ10 81404
KCNQ2 81406
KCNQ3 81479
KCNT1 81479
KCTD7 81479
LGI1 81479
MBD5 81479
MECP2 81302
MEF2C 81479
MFSD8 81479
NHLRC1 81403
NPRL2 81479
NRXN1 81479
PCDH19 81405
PIGO 81479
PLCB1 81479
PNKP 81479
PNPO 81479
POLG 81406
PPT1 81479
PRRT2 81479
RELN 81479
ROGDI 81479
SCARB2 81479
SCN1A 81407
SCN1B 81404
SCN2A 81479
SCN8A 81479
SCN9A 81479
SLC13A5 81479
SLC19A3 81479
SLC25A22 81479
SLC2A1 81405
SLC35A2 81479
SLC9A6 81406
SPTAN1 81479
ST3GAL3 81479
ST3GAL5 81479
STX1B 81479
STXBP1 81406
SZT2 81479
TBC1D24 81479
TNK2 81479
TPP1 81479
WWOX 81479
Full Panel Price* $1490.00
Test Code Test Copy Genes Total Price CPT Codes Copy CPT Codes
1961 Genes x (80) $1490.00 81302, 81403, 81404(x6), 81405(x5), 81406(x7), 81407, 81479(x59) Add to Order
Pricing Comment

If you would like to order a subset of these genes contact us to discuss pricing.

Targeted Testing

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

Turnaround Time

The great majority of tests are completed within 28 days.

Clinical Sensitivity

This panel includes genes causative for autosomal dominant, autosomal recessive and X-lined early infantile epileptic encephalopathy (EIEE). Extrapolating from previously published studies of next generation sequencing in large cohorts of patients with EIEE, we predict that our EIEE Panel will identify pathogenic variants more than 37% of EIEE cases with unknown cause (Lemke et al. 2012; Kodera et al. 2013; Carvill et al. 2013, Della Mina et al. 2015, Wang et al. 2014; Ream et al. 2014). In particular, clinical sensitivity for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy is more than 25-35% while for autosomal dominant focal epilepsy, the sensitivity is also more than 12-37% (Dibbens et al. 2013; Ishida et al. 2013, Picard et al. 2014). This panel could identify pathogenic variants in 70-80% of Dravet syndrome patients (Ottman et al 2010; Carvill et al 2014; Gaily et al 2013).

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Deletion/Duplication Testing via aCGH

Test Code Test Copy GenesIndividual Gene PriceCPT Code Copy CPT Codes
600 ACY1$690.00 81479 Add to Order
ADSL$690.00 81479
ALDH7A1$690.00 81479
ARFGEF2$690.00 81479
ARHGEF9$690.00 81479
ARX$690.00 81403
BCKDK$690.00 81479
CDKL5$690.00 81405
CHD2$690.00 81479
CLN3$690.00 81479
CLN5$690.00 81479
CLN6$690.00 81479
CLN8$690.00 81479
CNTNAP2$690.00 81479
CSTB$690.00 81479
CTSD$690.00 81479
CTSF$690.00 81479
EPM2A$690.00 81479
FARS2$690.00 81479
FOLR1$690.00 81479
FOXG1$690.00 81479
GABRA1$690.00 81479
GABRB3$690.00 81479
GABRG2$690.00 81479
GAMT$690.00 81479
GNAO1$690.00 81479
GOSR2$690.00 81479
GRIN2A$690.00 81479
KCNJ10$690.00 81479
KCNQ2$690.00 81479
KCNQ3$690.00 81479
KCNT1$690.00 81479
KCTD7$690.00 81479
LGI1$690.00 81479
MBD5$690.00 81479
MECP2$690.00 81304
MEF2C$690.00 81479
MFSD8$690.00 81479
NHLRC1$690.00 81479
NRXN1$690.00 81479
PCDH19$690.00 81479
PLCB1$690.00 81479
PNKP$690.00 81479
PNPO$690.00 81479
POLG$690.00 81479
PPT1$690.00 81479
RELN$690.00 81479
ROGDI$690.00 81479
SCARB2$690.00 81479
SCN1A$690.00 81479
SCN1B$690.00 81479
SCN2A$690.00 81479
SCN8A$690.00 81479
SCN9A$690.00 81479
SLC19A3$690.00 81479
SLC25A22$690.00 81479
SLC2A1$690.00 81479
SLC9A6$690.00 81479
SPTAN1$690.00 81479
ST3GAL3$690.00 81479
ST3GAL5$690.00 81479
STXBP1$690.00 81479
SZT2$690.00 81479
TBC1D24$690.00 81479
TNK2$690.00 81479
TPP1$690.00 81479
Full Panel Price* $1670.00
Test Code Test Copy Genes Total Price CPT Codes Copy CPT Codes
600 Genes x (66) $1670.00 81304, 81403, 81405, 81479(x63) Add to Order
Pricing Comment

# of Genes Ordered

Total Price

1

$690

2

$730

3

$770

4-10

$840

11-30

$1,290

31-100

$1,670

Over 100

Call for quote

Turnaround Time

The great majority of tests are completed within 28 days.

Clinical Sensitivity

Large deletions or duplications that may not be detectable by sequencing have been reported in ARHGEF9, ARX, CDKL5, CHD2, FOXG1, GABRA1, GABRB3, GABRG2, GRIN2A, LGI1, MBD5, MECP2, MEF2C, PCDH19, PRRT2, SCN1A, SCN2A, SCN8A, SLC2A1, SLC9A6, SPTAN1, STX1B, STXBP1 (Human Gene Mutation Database).

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Clinical Features

Early Infantile Epileptic Encephalopathy (EIEE) is a clinically and genetically heterogeneous neurodevelopmental disorder. The key feature of EIEE is onset of frequent and/or severe seizures within the first few weeks of life (Noh et al. 2012). These seizures are often associated with febrile events and may be refractory to treatment with anti-epileptic drugs (AEDs). EIEE patients may also present with an abnormal EEG pattern, such as the characteristic burst-suppression pattern seen in Ohtahara syndrome (Khan and Al Baradie 2012). Intellectual disability and psychomotor delay are common features of many severe epileptic encephalopathies.

Genetics

The most common causes of EIEE in infants are structural brain abnormalities and inborn errors of metabolism (Sharma and Prasad 2013, Wilmshurst et al. 2015). However, in cases of EIEE in which structural or metabolic defects are lacking, genetic factors are being found to play an increasing role. EIEE is a genetically heterogeneous disorder; over 100 genes have been suggested to be involved in disease pathogenesis (Lemke et al. 2012). Many EIEE cases are sporadic, occurring in families with no prior history of seizure (Allen et al. 2013). Sporadic cases of EIEE are commonly caused by dominant, de novo pathogenic variants in neuronally expressed genes. EIEE can also be inherited in an autosomal recessive manner. In this panel, we sequence a total of 80 genes. This panel covers genes which are related to epilepsy treatment such as ALDH7A1, CHRNA4, GRIN2A, KCNQ2, KCNQ3, KCNT1, PCDH19, POLG, PRRT2, SCN1A, SCN8A, SLC2A1, STXBP1, SLC19A3 and PNPO.

39 genes in which dominant or X-linked pathogenic variants have been reported in the literature to be causative for EIEE. Several of these genes are involved in well-characterized syndromes in which seizures are a predominant feature (Ottman et al. 2010; Wilmshurst et al. 2015) such as:

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

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

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

DEPDC5 related epilepsy

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

Autosomal Dominant Lateral Temporal Lobe Epilepsy: LGI1, RELN

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

Early-onset Absence Epilepsy: SLC2A1

X-linked Infantile Spasms: ARX

Epilepsy and Mental Retardation Limited to Females: PCDH19

Rett Syndrome: MECP2, CDKL5, FOXG1

41 genes in which homozygous or compound heterozygous pathogenic variants have been reported to cause EIEE. Some of these genes are involved in well-characterized autosomal recessive conditions in which seizures are a predominant feature such as: neuronal ceroid lipofuscinosis (TPP1, PPT1, CLN3, CLN5, CLN6, MFSD8, CLN8, CTSF, KCTD7), Lafora disease (EPM2A, NHLRC1), selected metabolic disorders (FOLR1, GAMT, ALDH7A1, PNPO, SLC19A3) and mitochondrial disease (POLG, FARS2, SLC25A22). See individual gene test descriptions for information on molecular biology of gene products.

Testing Strategy

For this NextGen test, the full coding regions plus ~20 bp of non-coding DNA flanking each exon are sequenced for each of the genes listed below. Sequencing is accomplished by capturing specific regions with an optimized solution-based hybridization kit, followed by massively parallel sequencing of the captured DNA fragments. Additional Sanger sequencing is performed for any regions not captured or with insufficient number of sequence reads. All pathogenic and undocumented variants are confirmed by Sanger sequencing.

This panel provides 100% coverage of the aforementioned regions of the indicated genes. We define coverage as > 20X NGS reads for exons and 0-10 bases of flanking DNA, > 10X NGS reads for 11-20 bases of flanking DNA, or Sanger sequencing. Coverage refers only to the indicated transcripts.

Indications for Test

Testing is recommended for patients with symptoms of EIEE, notably those with infantile onset seizures with no clear structural or metabolic cause.

Diseases

Name Inheritance OMIM ID
Aminoacylase 1 Deficiency AR 609924
Amish Infantile Epilepsy Syndrome AR 609056
Basal Ganglia Disease, Biotin-Responsive AR 607483
Branched-chain ketoacid dehydrogenase kinase deficiency AR 614923
Cerebral Folate Deficiency AR 613068
Ceroid Lipofuscinosis Neuronal 1 AR 256730
Ceroid Lipofuscinosis Neuronal 10 AR 610127
Ceroid Lipofuscinosis Neuronal 13 AR 615362
Ceroid Lipofuscinosis Neuronal 2 AR 204500
Ceroid Lipofuscinosis Neuronal 3 AR 204200
Ceroid Lipofuscinosis Neuronal 4A, Autosomal Recessive AR 204300
Ceroid Lipofuscinosis Neuronal 5 AR 256731
Ceroid Lipofuscinosis Neuronal 6 AR 601780
Ceroid Lipofuscinosis Neuronal 7 AR 610951
Ceroid Lipofuscinosis Neuronal 8 AR 600143
Ceroid Lipofuscinosis Neuronal 8, Northern Epilepsy Variant AR 610003
Congenital Disorder of Glycosylation, Type IIm XL 300896
Epilepsy, familial focal, with variable foci AD 604364
Epilepsy, Familial Focal, with Variable Foci 2 AD 617116
Epilepsy, Familial Temporal Lobe, 7 AD 616436
Epilepsy, focal, with speech disorder and with or without mental retardation AD 245570
Epilepsy, Lateral Temporal Lobe, Autosomal Dominant AD 600512
Epilepsy, Nocturnal Frontal Lobe, Type 1 AD 600513
Epilepsy, Nocturnal Frontal Lobe, Type 3 AD 605375
Epilepsy, Nocturnal Frontal Lobe, Type 4 AD 610353
Epilepsy, Progressive Myoclonic 3 AR 611726
Epilepsy, Progressive Myoclonic 4, With Or Without Renal Failure AR 254900
Epilepsy, Progressive Myoclonic 6 AR 614018
Epileptic encephalopathy, childhood-onset AD 615369
Epileptic encephalopathy, early infantile, 1 XLR 308350
Epileptic Encephalopathy, Early Infantile, 10 AR 613402
Epileptic Encephalopathy, Early Infantile, 11 AD 613721
Epileptic Encephalopathy, Early Infantile, 12 AR 613722
Epileptic Encephalopathy, Early Infantile, 13 AD 614558
Epileptic encephalopathy, early infantile, 14 AD 614959
Epileptic Encephalopathy, Early Infantile, 15 AR 615006
Epileptic Encephalopathy, Early Infantile, 16 AR 615338
Epileptic Encephalopathy, Early Infantile, 17 AD 615473
Epileptic encephalopathy, early infantile, 18 AR 615476
Epileptic Encephalopathy, Early Infantile, 2 XLD 300672
Epileptic Encephalopathy, Early Infantile, 24 AD 615871
Epileptic Encephalopathy, Early Infantile, 25 AR 615905
Epileptic Encephalopathy, Early Infantile, 26 AD 616056
Epileptic Encephalopathy, Early Infantile, 3 AR 609304
Epileptic Encephalopathy, Early Infantile, 32 AD 616366
Epileptic Encephalopathy, Early Infantile, 4 AD 612164
Epileptic Encephalopathy, Early Infantile, 5 AD 613477
Epileptic Encephalopathy, Early Infantile, 7 AD 613720
Epileptic Encephalopathy, Early Infantile, 8 XLR 300607
Epileptic Encephalopathy, Early Infantile, 9 XL 300088
Generalized Epilepsy With Febrile Seizures Plus, Type 1 AD 604233
Generalized Epilepsy With Febrile Seizures Plus, Type 3 AD 611277
Generalized Epilepsy With Febrile Seizures Plus, Type 7 AD 613863
Generalized Epilepsy with Febrile Seizures Plus, Type 9 AD 616172
Glut1 Deficiency Syndrome 1 AD 606777
Heterotopia, Periventricular, Autosomal Recessive AR 608097
Hyperphosphatasia with mental retardation syndrome 2 AR 614749
Kohlschutter-Tonz syndrome AR 226750
Lafora Disease AR 254780
Mental Retardation, Autosomal Dominant 1 AD 156200
Mental Retardation, Stereotypic Movements, Epilepsy, And/Or Cerebral Malformations AD 613443
Mental Retardation, X-Linked, Syndromic, Christianson Type XLD 300243
Myoclonic Epilepsy, Familial Infantile AR 605021
Pitt-Hopkins-like syndrome 2 AR 614325
Progressive Sclerosing Poliodystrophy AR 203700
Pyridoxine-Dependent Epilepsy AR 266100
Rett Syndrome, Congenital Variant IC 613454
Seizures, Benign Familial Infantile, 2 AD 605751
Seizures, Benign Familial Neonatal, 2 AD 121201
SeSAME Syndrome AR 612780
Spinocerebellar ataxia, autosomal recessive 12 AR 614322
Unverricht-Lundborg Syndrome AR 254800

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Mitochondrial Complex I Deficiency Sequencing Panel with CNV Detection (Nuclear Genes)
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Neuronal Ceroid Lipofuscinosis 10 via the CTSD Gene
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Neuronal Ceroid Lipofuscinosis 3 via the CLN3 Gene
Neuronal Ceroid Lipofuscinosis 5 via the CLN5 Gene
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CONTACTS

Genetic Counselors
Geneticist
Citations
  • Allen A.S. et al. 2013. Nature. 501: 217-21. PubMed ID: 23934111
  • Carvill G.L. et al. 2013. Nature Genetics. 45: 825-30. PubMed ID: 23708187
  • Carvill G.L. et al. 2014. Neurology. 82: 1245-53. PubMed ID: 24623842
  • Della Mina E. et al. 2015. European Journal of Human Genetics. 23: 354-62. PubMed ID: 24848745
  • Dibbens L.M. et al. 2013. Nature Genetics. 45: 546-51. PubMed ID: 23542697
  • Gaily E. et al. 2013. Epilepsia. 54: 1577-85. PubMed ID: 23808377
  • Human Gene Mutation Database (Bio-base).
  • Ishida S. et al. 2013. Nature Genetics. 45: 552-5. PubMed ID: 23542701
  • Khan S., Al Baradie R. 2012. Epilepsy Research and Treatment. 2012: 403592. PubMed ID: 23213494
  • Kodera H. et al. 2013. Epilepsia. 54: 1262-9. PubMed ID: 23662938
  • Lemke J.R. et al. 2012. Epilepsia. 53: 1387-98. PubMed ID: 22612257
  • Noh G.J. et al. 2012. European Journal of Medical Genetics. 55: 281-98. PubMed ID: 22342633
  • Ottman R. et al. 2010. Epilepsia 51:655-70. PubMed ID: 20100225
  • Picard F. et al. 2014. Neurology. 82: 2101-6. PubMed ID: 24814846
  • Ream M.A., Mikati M.A. 2014. Epilepsy & Behavior. 37: 241-8. PubMed ID: 25108116
  • Sharma S., Prasad A.N. 2013. The Canadian Journal of Neurological Sciences. 40: 10-6. PubMed ID: 23250121
  • Wang J. et al. 2014. JAMA Neurology. 71: 650-1. PubMed ID: 24818677
  • Wilmshurst J.M. et al. 2015. Epilepsia. 56: 1185-97. PubMed ID: 26122601
Order Kits
TEST METHODS

NextGen Sequencing using PG-Select Capture Probes

Test Procedure

We use a combination of Next Generation Sequencing (NGS) and Sanger sequencing technologies to cover the full coding regions of the listed genes plus ~20 bases of non-coding DNA flanking each exon.  As required, genomic DNA is extracted from the patient specimen.  For NGS, patient DNA corresponding to these regions is captured using an optimized set of DNA hybridization probes.  Captured DNA is sequenced using Illumina’s Reversible Dye Terminator (RDT) platform (Illumina, San Diego, CA, USA).  Regions with insufficient coverage by NGS are covered by Sanger sequencing.  All pathogenic, likely pathogenic, or variants of uncertain significance are confirmed by Sanger sequencing.

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.

Patient DNA sequence is aligned to the genomic reference sequence for the indicated gene region(s). All differences from the reference sequences (sequence variants) are assigned to one of five interpretation categories, listed below, per ACMG Guidelines (Richards et al. 2015).

(1) Pathogenic Variants
(2) Likely Pathogenic Variants
(3) Variants of Uncertain Significance
(4) Likely Benign Variants
(5) Benign, Common Variants

Human Genome Variation Society (HGVS) recommendations are used to describe sequence variants (http://www.hgvs.org).  Rare variants and undocumented variants are nearly always classified as likely benign if there is no indication that they alter protein sequence or disrupt splicing.

Analytical Validity

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.   

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 Sanger sequencing does not reveal any difference from the reference sequence, or when a sequence variant is homozygous, we cannot be certain that we were able to detect both patient alleles.  Occasionally, a patient may carry an allele which does not amplify, due to a large deletion or insertion.   In these cases, the report will contain no information about the second allele.  Our Sanger and NGS Sequencing tests are generally not capable of detecting Copy Number Variants (CNVs).

We sequence all coding exons for each given transcript, plus ~20 bp of flanking non-coding DNA for each exon.  Test reports contain no information about other portions of the gene, such as regulatory domains, deep intronic regions or any currently uncharacterized alternative exons.

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 PCR.

Unless otherwise indicated, DNA sequence data is obtained from a specific cell-type (usually leukocytes 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.

Rare, low probability interpretations of sequencing results, such as for example the occurrence of de novo mutations in recessive disorders, are generally not included in the reports.

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.

Deletion/Duplication Testing Via Array Comparative Genomic Hybridization

Test Procedure

Equal amounts of genomic DNA from the patient and a gender matched reference sample are amplified and labeled with Cy3 and Cy5 dyes, respectively. To prevent any sample cross contamination, a unique sample tracking control is added into each patient sample. Each labeled patient product is then purified, quantified, and combined with the same amount of reference product. The combined sample is loaded onto the designed array and hybridized for at least 22-42 hours at 65°C. Arrays are then washed and scanned immediately with 2.5 µM resolution. Only data for the gene(s) of interest for each patient are extracted and analyzed.

Analytical Validity

PreventionGenetics' high density gene-centric custom designed aCGH enables the detection of relatively small deletions and duplications within a single exon of a given gene or deletions and duplications encompassing the entire gene. PreventionGenetics has established and verified this test's accuracy and precision.

Analytical Limitations

Our dense probe coverage may allow detection of deletions/duplications down to 100 bp; however due to limitations and probe spacing this cannot be guaranteed across all exons of all genes. Therefore, some copy number changes smaller than 100-300 bp within a targeted large exon may not be detected by our array.

This array may not detect deletions and duplications present at low levels of mosaicism or those present in genes that have pseudogene copies or repeats elsewhere in the genome.

aCGH will not detect balanced translocations, inversions, or point mutations that may be responsible for the clinical phenotype.

Breakpoints, if occurring outside the targeted gene, may be hard to define.

The sensitivity of this assay may be reduced when DNA is extracted by an outside laboratory.

Order Kits

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.

SPECIMEN TYPES
WHOLE BLOOD

(Delivery accepted Monday - Saturday)

  • Collect 3 ml -5 ml (5 ml preferred) of whole blood in EDTA (purple top tube) or ACD (yellow top tube). For Test #500-DNA Banking only, collect 10 ml -20 ml of whole blood.
  • For small babies, we require a minimum of 1 ml of blood.
  • Only one blood tube is required for multiple tests.
  • Ship blood tubes at room temperature in an insulated container. Do not freeze blood.
  • During hot weather, include a frozen ice pack in the shipping container. Place a paper towel or other thin material between the ice pack and the blood tube.
  • In cold weather, include an unfrozen ice pack in the shipping container as insulation.
  • At room temperature, blood specimen is stable for up to 48 hours.
  • If refrigerated, blood specimen is stable for up to one week.
  • Label the tube with the patient name, date of birth and/or ID number.

DNA

(Delivery accepted Monday - Saturday)

  • Send in screw cap tube at least 5 µg -10 µg of purified DNA at a concentration of at least 20 µg/ml for NGS and Sanger tests and at least 5 µg of purified DNA at a concentration of at least 100 µg/ml for gene-centric aCGH, MLPA, and CMA tests, minimum 2 µg for limited specimens.
  • For requests requiring more than one test, send an additional 5 µg DNA per test ordered when possible.
  • DNA may be shipped at room temperature.
  • Label the tube with the composition of the solute, DNA concentration as well as the patient’s name, date of birth, and/or ID number.
  • We only accept genomic DNA for testing. We do NOT accept products of whole genome amplification reactions or other amplification reactions.

CELL CULTURE

(Delivery preferred Monday - Thursday)

  • PreventionGenetics should be notified in advance of arrival of a cell culture.
  • Culture and send at least two T25 flasks of confluent cells.
  • Some panels may require additional flasks (dependent on size of genes, amount of Sanger sequencing required, etc.). Multiple test requests may also require additional flasks. Please contact us for details.
  • Send specimens in insulated, shatterproof container overnight.
  • Cell cultures may be shipped at room temperature or refrigerated.
  • Label the flasks with the patient name, date of birth, and/or ID number.
  • We strongly recommend maintaining a local back-up culture. We do not culture cells.
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