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Dystonia Sequencing Panel

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

Sequencing

Test Code Test Copy GenesCPT Code Copy CPT Codes
3017 ANO3 81479 Add to Order
ATP1A3 81479
GCH1 81479
GNAL 81479
PNKD 81406
PRKRA 81479
PRRT2 81479
SGCE 81406
SLC2A1 81405
SPR 81479
TAF1 81479
TH 81406
THAP1 81404
TOR1A 81404
TUBB4A 81479
Full Panel Price* $2100.00
Test Code Test Copy Genes Total Price CPT Codes Copy CPT Codes
3017 Genes x (15) $2100.00 81404(x2), 81405, 81406(x3), 81479(x9) 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

TOR1A pathogenic variants have been identified in up to 2.5% of all isolated dystonia (Grundmann et al. 2003; Ozelius and Lubarr 2016).

The pathogenic variant c.904_906del (p.Glu303del) in the TOR1A gene has been identified in up to 53% of patients with early-onset isolated dystonia in the non-Jewish populations; and in up to 90% of patients of Ashkenazi Jew ancestry (Ozelius and Bressman 2011).

THAP1 pathogenic variants have been identified in about 2.5% of patients with cervical dystonia (LeDoux et al. 2016).

ANO3 pathogenic variants have been identified in about 1% of patients with predominantly craniocervical dystonia (Zech et al. 2014; Zech et al. 2017).

GNAL pathogenic variants have been identified in about 0.5% of patients with cervical dystonia (LeDoux et al. 2016).

GCH1 pathogenic variants have been identified in up to 87% of patients with clinical diagnosis of dystonia, who showed marked and sustained response to levodopa treatment (Hagenah et al. 2005: Clot et al. 2009).

TH pathogenic variants have been identified in about 5% of patients with a clinical diagnosis of dystonia, who showed marked and sustained response to levodopa treatment (Clot et al. 2009).

SPR pathogenic variants have been identified in about 1.5% of patients with clinical diagnosis of dystonia, who showed marked and sustained response to levodopa treatment (Clot et al. 2009).

ATP1A3 pathogenic variants have been identified in about 50% of families with a history of abrupt onset of dystonia with Parkinsonism (Brashear et al. 2007).

PRKRA pathogenic variants have been identified in about 21.5% of patients with clinical diagnosis of progressive generalized dystonia and mild Parkinsonism (Camargos et al. 2008; Zech et al. 2014; Quadri et al. 2016).

SGCE pathogenic variants have been identified in up to 50% of familial myoclonus-dystonia cases and in 10-15% of non-familial cases (Raymond and Ozelius 2012).

PNKD pathogenic variants have been identified in the majority of cases with clinical diagnosis of paroxysmal nonkinesigenic dyskinesia (Chen et al. 2005).

PRRT2 pathogenic variants have been identified in about 35% of patients with paroxysmal dyskinesia (Gardner et al. 2015).

SLC2A1 pathogenic variants have been identified in about 10% of patients with paroxysmal dyskinesia (Gardner et al. 2015).

Pathogenic variants in TAF1 have been reported as disease-causing in 11 unrelated patients with several neurodevelopmental features, including facial dysmorphology, intellectual disability, and dystonia. Evidence for pathogenicity included co-segregation of the variants with the disease phenotype in the familial cases, and de novo occurence in the sporadic cases. Of note, the patients were identified using a genotype-first approach, in which a large number of patients were screened for the presence of TAF1 pathogenic variants. The total number of patients screened is unknown (Stessman et al. 2014; O’Rawe et al. 2015). This test does not include the isoform that contains the c.94C>T (p.Arg32Cys) variant, which is part of the disease haplotype that has been linked to familial dystonia in Pany Island. This variant has not been conclusively shown to be causative (Evidente 2015).

Pathogenic variants in TUBB4A appear to be a rare cause of dystonia. To date, only one pathogenic missense variant has been identified in one large Australian family with a history of dystonia and spasmodic dysphonia, which responded well to alcohol (Lohmann et al. 2013; Hersheson et al. 2013). Evidence for pathogenicity included co-segregation with the disease phenotype in the described family.

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Deletion/Duplication Testing via aCGH

Test Code Test Copy GenesIndividual Gene PriceCPT Code Copy CPT Codes
600 ATP1A3$690.00 81479 Add to Order
GCH1$690.00 81479
PNKD$690.00 81479
PRRT2$690.00 81479
SGCE$690.00 81405
SLC2A1$690.00 81479
TH$690.00 81479
TOR1A$690.00 81479
Full Panel Price* $840.00
Test Code Test Copy Genes Total Price CPT Codes Copy CPT Codes
600 Genes x (8) $840.00 81405, 81479(x7) 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 pathogenic copy number variations have been reported only in four genes included in this panel. The following Table indicates sensitivity by gene and by phenotype:

Gene Sensitivity Phenotype Reference
SGCE 8% Myoclonus dystonia Grünewald et al. 2008
GCH1 10% DOPA-responsive dystonia Clot et al. 2009
TH One case DOPA-responsive dystonia Ormazabal et al. 2011
PRRT2 1.5% Movement disorders Dale et al. 2012

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Clinical Features

Dystonia has been recently re-defined by an international panel as: “a movement disorder characterized by sustained and intermittent muscle contractions, causing abnormal, often repetitive, movements, postures or both. Dystonic movements are typically patterned, twisting and may be tremulous. Dystonia is often initiated or worsened by voluntary action and associated with overflow muscle activation” (Albanese et al. 2013).

Dystonia is a clinically heterogeneous disorder in regards to age of onset, distribution, and the occurrence of another movement disorder, including parkinsonism, myoclonus, and dyskinesia. Additional neurological manifestations reported in patients with the complex form of the disease include ataxia, oculomotor dysfunction and cognitive impairment. Age of onset varies from early infancy to late adulthood. Four types are distinguished based on the part of the body that is affected: (1) focal, if only one part of the body is affected; (2) segmental, if contiguous regions are affected; (3) multifocal, if non-contiguous regions are affected; and (4) generalized, if at least three parts of the body are affected, including the trunk and one leg (Klein et al. 2014; Lohmann and Klein 2017; Williams et al. 2017).

Dystonia in its various forms affects people worldwide, with a higher incidence in women than in men. Isolated dystonia is estimated to affect about 16 in 100,000 individuals (Steeves et al. 2012).

Genetics

About 20% of dystonia cases are familial (Lohmann et Klein 2017). In most of these families, the disease is inherited in an autosomal dominant manner with variable penetrance and expressivity. Autosomal recessive inheritance is documented in several families with dopa-responsive dystonia and families with a combination of dystonia and Parkinsonism. An X-linked recessive form of dystonia combined with parkinsonism and severe neurodevelopmental features (XPD) has been documented mainly in patients from Pany Island in the Philippines (Domingo et al. 2015).

Dystonia is genetically heterogeneous. To date, fifteen genes have been confirmed to be involved in the various forms of dystonia: TOR1A, THAP1, GNAL, ANO3, TAF1, GCH1, TH, SPR, ATP1A3, PRKRA, SGCE, PNKD, PRRT2, SLC2A1, and TUBB4A (Klein et al. 2014; Lohmann and Klein 2017). Dystonia was initially classified based on genetic locus symbols that were assigned to the successive loci identified from genetic linkage analyses of informative families with a history of the various forms of the disease. Twenty five subtypes, designated DYT1 to DYT25, were defined. The causative genes for several of these loci have not yet been identified; while several different DYT types corresponded to the same genes. In addition, a few reported loci have not been replicated since the initial publications (Klein et al. 2014; Camargo et al. 2015).

A new classification system based on the age of onset, body distribution, temporal pattern, the occurrence of additional movement disorders, mode of inheritance and defective gene has been proposed (Marras et al. 2012; Lohmann et Klein 2017). It is summarized in the following table:

Gene Form Inheritance Additional phenotypic information
TOR1A Isolated AD Early-onset, generalized dystonia
THAP1 Isolated AD Adolescent-onset mixed type dystonia
GNAL Isolated AD Adult onset craniocervical dystonia
ANO3 Isolated AD Adult onset craniocervical dystonia
TAF1 With neurodevelopmental disorder X-linked Severe
GCH1 With Parkinsomism AD Dopa-reponsive dystonia
TH With Parkinsomism AR Dopa-reponsive dystonia
SPR With Parkinsomism AR Dopa-reponsive dystonia and cognitive impairment
ATP1A3 With Parkinsomism AD Rapid-onset dystonia
PRKRA With Parkinsomism AR Young-onset dystonia
SGCE With Myoclonus AD Early onset and psychiatric features
PNKD Paroxysmal and dyskenisia AD Paroxysmal nonkinesigenic dyskinesia
PRRT2 Paroxysmal and dyskenisia AD Paroxysmal kinesigenic choreoathetosis and infantile convulsions
SLC2A1 Paroxysmal and dyskenisia AD Paroxysmal exertion-induced dyskinesia

In addition to the 14 genes listed above, pathogenic variants in the TUBB4A gene have been reported in patients with whispering dysphonia, designated DYT4 in the Locus-based nomenclature, and presenting with a broad phenotype that includes generalized dystonia and leukoencephalopathy (Lohmann et al. 2013; Hersheson et al. 2013; Klein et al. 2014).

The genetic defect has not been yet identified in the X-linked recessive form of dystonia combined with parkinsonism (XPD). However, linkage and haplotype analyses of dystonia families from the Pany Island mapped the disease locus to a 300-kb region that includes the TAF1 gene. Penetrance is complete in male patients with the disease haplotype. Most heterozygote female carriers of the disease haplotype are unaffected. However, clinical features with variable severity have been documented in several female carriers (Westenberger et al. 2013). This test does not include the isoform that contains the c.94C>T (p.Arg32Cys) variant, which is part of the disease haplotype that has been linked to familial dystonia in Pany island. This variant has not been conclusively shown to be causative (Evidente 2015).

Of note, several missense variants in the TAF1 gene have been reported as disease-causing in 11 patients with several neurodevelopmental features, including facial dysmorphology, intellectual disability, and dystonia. Evidence for pathogenicity included de novo occurrence of variants in the isolated cases, and co-segregation with the disease phenotype in the familial cases (O’Rawe et al. 2015).

To date, over 600 pathogenic variants in the 15 dystonia genes have been reported in various ethnic and geographical populations. See individual gene test descriptions for information on molecular biology of gene products.

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. Additional Sanger sequencing is performed for any regions not captured or with insufficient number of sequence reads. All reported pathogenic, likely pathogenic, and 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.

This panel provides full coverage of all coding exons of the genes listed, plus ~20 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads for coding regions and 0-10 bases of flanking DNA, >10X NGS reads for 11-20 bases of flanking DNA, or Sanger sequencing.

Since this test is performed using exome capture probes, a reflex to any of our exome based tests is available (PGxome, PGxome Custom Panels).

Indications for Test

Candidates for this Dystonia Panel are patients with isolated dystonia; patients with dystonia combined with another movement disorder; and patients with dystonia and additional neurolgical features, regardless of the age of onset of symptoms and mode of inheritance of the disease. In addition to this panel, PreventionGenetics also offers individual gene tests for all the genes that have been conclusively implicated in dystonia (Kein et al. 2014; Lohmann and Klein 2017).

Genes

Official Gene Symbol OMIM ID
ANO3 610110
ATP1A3 182350
GCH1 600225
GNAL 139312
PNKD 609023
PRKRA 603424
PRRT2 614386
SGCE 604149
SLC2A1 138140
SPR 182125
TAF1 313650
TH 191290
THAP1 609520
TOR1A 605204
TUBB4A 602662
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Related Tests

Name
Autism Spectrum Disorders and Intellectual Disability (ASD-ID) Comprehensive Panel
Autosomal Domianant DOPA-Responsive Dystonia via the GCH1 Gene
DYT1 Early-Onset Isolated Dystonia via the TOR1A Gene
Early Infantile Epileptic Encephalopathy Sequencing Panel
Early Infantile Epileptic Encephalopathy:
Dominant and X-linked Sequencing Panel
Familial Hemiplegic Migraine Sequencing Panel
GLUT1 Deficiency Syndrome via the SLC2A1 Gene
Hemiplegic Migraine and PRRT2-Related Disorders via the PRRT2 Gene
Hyperphenylalaninemia Sequencing Panel
Myoclonus-Dystonia Syndrome via the SGCE Gene
Parkinson Disease Sequencing Panel
Paroxysmal Nonkinesigenic Dyskinesia (DYT8) via the PNKD Gene
Sepiapterin Reductase (SR) Deficiency via the SPR Gene

CONTACTS

Genetic Counselors
Geneticist
Citations
  • Albanese A. et al. 2013. Movement Disorders. 28: 863-73. PubMed ID: 23649720
  • Brashear A. et al. 2007. Brain. 130: 828-35. PubMed ID: 17282997
  • Camargo C.H. et al. 2015. Arquivos De Neuro-psiquiatria. 73: 350-8. PubMed ID: 25992527
  • Camargos S. et al. 2008. The Lancet. Neurology. 7: 207-15. PubMed ID: 18243799
  • Chen Dong-Hui et al. 2005. Archives of Neurology. 62: 597–600. PubMed ID: 15824259
  • Clot F. et al. 2009. Brain. 132: 1753-63. PubMed ID: 19491146
  • Dale R.C. et al. 2012. Developmental Medicine and Child Neurology. 54: 958-60. PubMed ID: 22845787
  • Domingo A. et al. 2015. European Journal of Human Genetics. 23: 1334-40. PubMed ID: 25604858
  • Evidente V.G.H. 2015. X-Linked Dystonia-Parkinsonism. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong C-T, Smith RJ, and Stephens K, editors. GeneReviews™, Seattle (WA): University of Washington, Seattle. PubMed ID: 20301662
  • Gardiner A.R. et al. 2015. Brain. 138: 3567-80. PubMed ID: 26598494
  • Grünewald A. et al. 2008. Human Mutation. 29: 331-2. PubMed ID: 18205193
  • Grundmann K. et al. 2003. Archives of Neurology. 60: 1266-70. PubMed ID: 12975293
  • Hagenah J. et al. 2005. Neurology. 64: 908-11. PubMed ID: 15753436
  • Hersheson J. et al. 2013. Annals of Neurology. 73: 546-53. PubMed ID: 23424103
  • Human Gene Mutation Database (Bio-base).
  • Klein C. et al. 2014. Dystonia Overview. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong C-T, Smith RJ, and Stephens K, editors. GeneReviews™, Seattle (WA): University of Washington, Seattle. PubMed ID: 20301334
  • LeDoux M.S. et al. 2016. Neurology. Genetics. 2: e69. PubMed ID: 27123488
  • Lohmann K. et al. 2013. Annals of Neurology. 73: 537-45. PubMed ID: 23595291
  • Lohmann K., Klein C. 2017. Current Neurology and Neuroscience Reports. 17: 26. PubMed ID: 28283962
  • Marras C. et al. 2012. Neurology. 78: 1016-24. PubMed ID: 22454269
  • O'Rawe J.A. et al. 2015. American Journal of Human Genetics. 97: 922-32. PubMed ID: 26637982
  • Ormazabal A. et al. 2011. Movement Disorders. 26: 1558-60. PubMed ID: 21465550
  • Ozelius L., Lubarr N. 2016. DYT1 Early-Onset Isolated Dystonia.In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong C-T, Smith RJ, and Stephens K, editors. GeneReviews™, Seattle (WA): University of Washington, Seattle. PubMed ID: 20301665
  • Ozelius L.J., Bressman S.B. 2011. Neurobiology of Disease. 42: 127-35. PubMed ID: 21168499
  • Quadri M. et al. 2016. Movement Disorders. 31: 765-7. PubMed ID: 26990861
  • Raymond D., Ozelius L. 2012. Myoclonus-Dystonia.In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong C-T, Smith RJ, and Stephens K, editors. GeneReviews™, Seattle (WA): University of Washington, Seattle. PubMed ID: 20301587
  • Steeves T.D. et al. 2012. Movement Disorders. 27: 1789-96. PubMed ID: 23114997
  • Stessman H.A. et al. 2014. Cell. 156: 872-7. PubMed ID: 24581488
  • Westenberger et al. 2013. Movement Disorders. 28: 675-8. PubMed ID: 23389859
  • Williams L. et al. 2017. European Journal of Neurology. 24: 73-81. PubMed ID: 27647704
  • Zech M. et al. 2014. Movement Disorders. 29: 1504-10. PubMed ID: 25142429
  • Zech M. et al. 2017. Movement Disorders. 32: 549-559. PubMed ID: 27666935
Order Kits
TEST METHODS

Exome Sequencing with CNV Detection

Test Procedure

For the PGxome we use Next Generation Sequencing (NGS) technologies to cover the coding regions of targeted genes plus ~10 bases of non-coding DNA flanking each exon. 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). Common benign, likely benign, and low quality variants are filtered from analysis. All reported pathogenic, likely pathogenic, and 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.

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
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.

Sequencing: 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 relevant to the patient's health will not be detected.

We sequence coding exons for most given transcripts, plus ~10 bp of flanking non-coding DNA for each exon. Unless specifically indicated, test reports contain no information about other portions of the gene, such as regulatory domains, deep intronic regions, uncharacterized alternative exons, chromosomal rearrangements, repeat expansions, epigenetic effects, and mitochondrial genome variants.

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.

Copy Number Variant Analysis: The PGxome test detects most 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.

Balanced translocations or inversions are only rarely detected.

Certain types of sex chromosome aneuploidy may not be detected.  

In nearly all cases, our ability to determine the exact copy number change within a targeted region is limited.

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

The sensitivity of this test is dependent on DNA quality.

General: 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.

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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