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Early Infantile Epileptic Encephalopathy:
Dominant and X-linked 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
1321 ARHGEF9 81479 Add to Order
ARX 81404
CDKL5 81406
CHD2 81479
CHRNA2 81479
CHRNA4 81405
CHRNB2 81405
DEPDC5 81479
FOXG1 81404
GABRA1 81479
GABRB3 81479
GABRG2 81405
GNAO1 81479
GRIN2A 81479
HCN1 81479
KCNA2 81479
KCNB1 81479
KCNQ2 81406
KCNQ3 81479
KCNT1 81479
LGI1 81479
MBD5 81479
MECP2 81302
MEF2C 81479
NPRL2 81479
PCDH19 81405
PRRT2 81479
RELN 81479
SCN1A 81407
SCN1B 81404
SCN2A 81479
SCN8A 81479
SCN9A 81479
SLC2A1 81405
SLC35A2 81479
SLC9A6 81406
SPTAN1 81479
STX1B 81479
STXBP1 81406
Full Panel Price* $1290.00
Test Code Test Copy Genes Total Price CPT Codes Copy CPT Codes
1321 Genes x (39) $1290.00 81302, 81404(x3), 81405(x5), 81406(x4), 81407, 81479(x25) 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

Extrapolating from previously published studies of next generation sequencing in large cohorts of patients with EIEE, we predict that our Dominant and X-linked EIEE Panel will identify pathogenic variants in ~37% of EIEE cases of 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 approximately 25-35% while for autosomal dominant focal epilepsy, the sensitivity reachs around 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 ARHGEF9$690.00 81479 Add to Order
ARX$690.00 81403
CDKL5$690.00 81405
CHD2$690.00 81479
FOXG1$690.00 81479
GABRA1$690.00 81479
GABRB3$690.00 81479
GABRG2$690.00 81479
GNAO1$690.00 81479
GRIN2A$690.00 81479
KCNQ2$690.00 81479
KCNQ3$690.00 81479
KCNT1$690.00 81479
LGI1$690.00 81479
MBD5$690.00 81479
MECP2$690.00 81304
MEF2C$690.00 81479
PCDH19$690.00 81479
RELN$690.00 81479
SCN1A$690.00 81479
SCN1B$690.00 81479
SCN2A$690.00 81479
SCN8A$690.00 81479
SCN9A$690.00 81479
SLC2A1$690.00 81479
SLC9A6$690.00 81479
SPTAN1$690.00 81479
STXBP1$690.00 81479
Full Panel Price* $1290.00
Test Code Test Copy Genes Total Price CPT Codes Copy CPT Codes
600 Genes x (28) $1290.00 81304, 81403, 81405, 81479(x25) 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, GABRG2, 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, other 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. In this panel, we sequence 39 genes in which dominant or X-linked mutations have been reported in the literature to be causative for EIEE. In particular, this panel includes several well-characterized syndromes in which seizures are a predominant feature (Wilmshurst et al. 2015) such as: Dravet Syndrome: SCN1A, SCN1B (Ottman et al 2010; Wilmshurst et al 2015), as well as GABRG2, SCN2A, SCN9A, PCDH19, GABRA1, STXBP1 and CHD2. Ohtahara Syndrome: ARX, STXBP1 (Ottman et al 2010; Wilmshurst et al 2015), as well as SCN2A, KCNQ2, KCNT1, SLC25A22, CDKL5, PNKP and SPTAN1.

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

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-lined Infantile Spasms: ARX Epilepsy and Mental Retardation Limited to Females: PCDH19 Rett Syndrome: MECP2, CDKL5, FOXG1

DEPDC5-Related Epilepsy: DEPDC5 If phenotype is not specific and inheritance mode is not clear, additional genes could be considered by testing the Early Infantile Epileptic Encephalopathy NextGen Sequencing Panel which combined autosomal dominant, autosomal recessive and X-linked infantile epilepsy. 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.

Indications for Test

Testing is recommended for patients with symptoms of EIEE, notably infantile onset seizures for which a dominant, sporadic or X-linked mode of inheritance is suspected.

Diseases

Name Inheritance OMIM ID
Congenital Disorder of Glycosylation, Type IIm XL 300896
Epilepsy, Childhood Absence 5 AD 612269
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, Juvenile Myoclonic 5 AD 611136
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
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, 14 AD 614959
Epileptic Encephalopathy, Early Infantile, 17 AD 615473
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, 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 XL 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
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 AD 300243
Rett Syndrome, Congenital Variant AD 613454
Seizures, Benign Familial Infantile, 2 AD 605751
Seizures, Benign Familial Neonatal, 2 AD 121201
Severe Myoclonic Epilepsy In Infancy AD 607208

Related Tests

Name
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Autism Spectrum Disorders and Intellectual Disability (ASD-ID) Comprehensive Sequencing Panel with CNV Detection
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy via the CHRNA4 Gene
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy via the CHRNB2 Gene
Brugada Syndrome Sequencing Panel
Brugada Syndrome via the SCN1B Gene
Childhood Absence Epilepsy and Epileptic Encephalopathy via the GABRB3 Gene
Christianson Type X-Linked Mental Retardation via the SLC9A6 Gene
Chromosome 5q14.3 Deletion Syndrome via the MEF2C Gene
Comprehensive Cardiac Arrhythmia Sequencing Panel
Comprehensive Cardiology Sequencing Panel with CNV Detection
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection
Comprehensive Neuropathy Sequencing Panel
Congenital Variant Rett syndrome or FOXG1 syndrome via the FOXG1 Gene
Disorders of Sex Development and Infertility Sequencing Panel with CNV Detection
Disorders of Sex Development Sequencing Panel with CNV Detection
Dravet Syndrome and Generalized Epilepsy with Febrile Seizures Plus via the SCN1A Gene
Dystonia Sequencing Panel with CNV Detection
Early Infantile Epilepsies and Autism via the SCN2A Gene
Early Infantile Epileptic Encephalopathy 24 via the HCN1 Gene
Early Infantile Epileptic Encephalopathy and Benign Familial Neonatal Seizures via the KCNQ2 Gene
Early Infantile Epileptic Encephalopathy and Intellectual Disability via the SPTAN1 Gene
Early Infantile Epileptic Encephalopathy and Rett-like Syndrome via the CDKL5 Gene
Early Infantile Epileptic Encephalopathy Sequencing Panel
Early Infantile Epileptic Encephalopathy via the KCNA2 Gene
Early Infantile Epileptic Encephalopathy via the SCN8A Gene
Early Infantile Epileptic encephalopathy-4/Ohtahara syndrome via the STXBP1 Gene
Epilepsy and Intellectual Disability in Females via the PCDH19 Gene
Epilepsy: GNAO1-Related Early Infantile Epileptic Encephalopathy and Neurodevelopmental Disorder with Involuntary Movement via the GNAO1 Gene
Epilepsy: Benign Familial Neonatal Seizures Type 2 via the KCNQ3 Gene
Epilepsy: Dravet Syndrome Sequencing Panel
Epilepsy: Early Infantile Epileptic Encephalopathy via the ARHGEF9 Gene
Epilepsy: Generalized Epilepsy with Febrile Seizures Plus (GEFS+) Sequencing Panel
Epilepsy: Ohtahara Syndrome Sequencing Panel
Epileptic Encephalopathy and Intellectual Disability via the CHD2 Gene
Epilespy, Autosomal Dominant Lateral Temporal, via the LGI1 Gene
Episodic Pain Syndrome Sequencing Panel
Familial Atrial Fibrillation Syndrome Sequencing Panel
Familial Focal Epilepsy with Variable Foci via the DEPDC5 Gene
Familial Hemiplegic Migraine Sequencing Panel
Female Infertility Sequencing Panel with CNV Detection
Focal Epilepsy with Speech Disorder with or without Intellectual Disability via the GRIN2A Gene
Generalized Epilepsy with Febrile Seizures Plus and Dravet syndrome via the SCN1B Gene
Generalized Epilepsy With Febrile Seizures Plus via the GABRG2 Gene
GLUT1 Deficiency Syndrome via the SLC2A1 Gene
Hemiplegic Migraine and PRRT2-Related Disorders via the PRRT2 Gene
Hereditary Sensory and Autonomic Neuropathy Sequencing Panel
Juvenile Myoclonic Epilepsy via the GABRA1 Gene
Lissencephaly with Cerebellar Hypoplasia via the RELN Gene
Male Infertility Sequencing Panel with CNV Detection
Malignant Migrating Partial Seizures of Infancy and Autosomal Dominant Nocturnal Frontal Lobe Epilepsy via the KCNT1 Gene
Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection
Rett Syndrome via the MECP2 Gene
Rett Syndrome, Angelman Syndrome and Variant Syndromes Sequencing Panel with CNV Detection
Sodium Channel, Voltage-Gated, Type IX, Alpha Subunit Disorders via the SCN9A Gene
X-Linked Intellectual Disability Sequencing Panel with CNV Detection
X-linked Lissencephaly-2 via the ARX Gene

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
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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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