Forms

Dementia Sequencing Panel

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

NGS Sequencing

Test Code Test Copy GenesCPT Code Copy CPT Codes
4995 APP 81406 Add to Order
C9orf72 81479
CHMP2B 81479
FUS 81406
GRN 81406
MAPT 81406
PSEN1 81405
PSEN2 81406
SQSTM1 81479
TARDBP 81405
TREM2 81479
TYROBP 81479
UBQLN2 81479
Full Panel Price* $1440.00
Test Code Test Copy Genes Total Price CPT Codes Copy CPT Codes
4995 Genes x (13) $1440.00 81405(x2), 81406(x5), 81479(x6) Add to Order
Pricing Comment

$1440 for full panel.

$250 for C9orf72 only.

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 will detect pathogenic variants in up to 95% of patients with autosomal dominant Alzheimer's disease.

It will also detect pathogenic variants in up to 65% of patients with familial FTD.

The following Table indicates sensitivity by gene and by phenotype:

Gene ADAD Reference FTD Reference
PSEN1 75% 1 10 cases HGMD
APP 15% 1 NA NA
PSEN2 5% 2,3 One case* 4
C9ORF72 NA NA 25% 5
TARDBP NA NA One case 6
FUS NA NA One case 7
CHMP2B 4 cases HGMD 5 cases HGMD
UBQLN2 NA NA 2.2% 8
SQSTM1 NA NA 3% 9
GRN NA NA >20% 10
MAPT NA NA Up to 20% 11
TREM2 NA NA 2 cases * 12, 13

Sensitivity corresponds to the percentage of all genotyped patients with a clinical diagnosis and a positive family history of either Alzheimer’s disease or frontotemporal dementia. For genes with rare pathogenic variants, the numbers of reported simplex cases are listed. Lack of conclusive evidence for pathogenicity is indicated by an asterisk.

REFERENCES

1: Bird, 2015

2: Marcon et al. 2009

3: Wallon et al. 2012

4: Ferrari, 2012

5: Majounie, 2012

6: Borroni, 2010

7: Langenhove T van, 2012

8: Synofzik, 2012

9: Rubino, 2012

10: Baker, 2006

11: Rademakers, 2012

12. Thelen, 2014

13. Borroni, 2014

HGMD: Human Gene Mutation Database

See More

See Less

Deletion/Duplication Testing via aCGH

Test Code Test Copy GenesIndividual Gene PriceCPT Code Copy CPT Codes
600 APP$690.00 81479 Add to Order
FUS$690.00 81479
PSEN1$690.00 81479
PSEN2$690.00 81479
SQSTM1$690.00 81479
TARDBP$690.00 81479
UBQLN2$690.00 81479
Full Panel Price* $840.00
Test Code Test Copy Genes Total Price CPT Codes Copy CPT Codes
600 Genes x (7) $840.00 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 deletions appear to be rare. They were reported only in three genes: GRN, MAPT, PSEN1 (Iida et al. 2012; Maruyama et al. 2010; Pickering-Brown et al. 2006; Rohrer et al. 2013; Rovelet-Lecrux et al. 2009; Evin et al. 2002).

Large pathogenic duplications in APP account for about 8% of patients with a clinical diagnosis of autosomal dominant Alzheimer's Disease (Rovelet-Lecrux A. et al. 2006).

See More

See Less

Clinical Features

Dementia is characterized by cognitive and behavioral decline. It is caused by a progressive degeneration and atrophy of various regions of the brain. Progressive dementia is common in several neurodegenerative syndromes in adults. The most prevalent forms are Alzheimer’s disease (AD) and Frontotemporal dementia (FTD) (Wu et al. 2012; Onyike and Diehl-Schmid 2013). Although there is a considerable phenotypic overlap between AD and FTD, several distinguishing features may help to distinguish the two disorders.

AD may be distinguished by a later age of onset and slower progression compared to FTD. In addition, memory loss and visual and spatial abnormalities are the chief complaints in AD; while behavioral abnormalities are the main features in FTD. And patients with FTD often develop motor abnormalities, which are rare in patients with AD (Harciarek and Jodzia 2005).

Based on the age of onset of symptoms, AD is conventionally classified in two types: early-onset AD when symptoms begin before the age of 65 years, and late-onset AD when symptoms begin after the age of 65 years. Age of onset may differ among affected relatives (Brickell et al. 2006). Gross cortical atrophy accompanied by aggregation of beta-amyloid protein in the form of plaques and tangles are hallmark features of the disease (Blennow et al. 2006). The dysfunction of the affected areas of the brain results in gradual deterioration of memory that affects language, personality, and cognitive control. Symptoms include irritability, aggression, confusion and mood changes. As the disease progresses, additional symptoms develop and include sleep disturbances, loss of language skills, depression, and withdrawal. Eventually, patients do not recognize the faces of close family members and lose the ability to perform routine tasks independently (Bäckman et al. 2004).

Frontotemporal dementia (FTD), previously referred to as Pick’s disease, is a clinically heterogeneous syndrome due to the progressive degeneration and atrophy of various regions of the frontal and temporal lobes of the brain. Symptoms are insidious and begin usually during the fourth and sixth decades of life; although earlier and later onsets have been documented (Neary et al. 1998; Snowden et al. 2002; Bruni et al. 2007). The annual incidence of FTD is 3-4 per 100,000 (Onyike and Diehl-Schmid 2013).

Two major forms, the behavioral-variant (FTD-bv) and the primary progressive aphasia (PPA), are recognized based on the site of onset of degeneration and the associated symptoms. In FTD-bv the degenerative process begins in the frontal lobes and results in personality changes and deterioration of social conducts. Most common behavioral changes are: disinhibition, apathy, deterioration of executive function, obsessive thoughts, compulsive behavior, and neglect of personal hygiene (Rascovsky et al. 2011). In PPA the degenerative process begins in the temporal lobes. PPA is a language disorder that is further divided into two sub-forms: progressive non-fluent aphasia (PNFA) and semantic dementia (SD). PNFA is characterized by difficulty in verbal communications, word retrieval, and speech distortion. Reading, writing and spelling are also affected; while memory is relatively preserved. SD is characterized by the progressive impairment of word comprehension, object and face recognition, and loss of semantic memory. Reading and writing skills are relatively preserved (Gustafson et al. 1993).

Genetics

Alzheimer’s disease is inherited in about 25% of cases. The inherited form of AD is transmitted in an autosomal dominant manner (ADAD). The sporadic cases are believed to be caused by the interaction of several factors, including genetic and environmental (Gatz et al. 2006). Although symptoms usually begin before 65 years of age in ADAD, later onset has been reported (Ryman et al. 2014; Roeber et al. 2015). Inherited AD is genetically heterogeneous. Three genes have been implicated in ADAD: PSEN1, APP and PSEN2 (Campion et al. 1999; Levy et al. 1990; Rogaev et al. 1995).

Pathogenic variants in the PSEN1 gene account for up to 75% of ADAD cases (Bird 2015). Most variants are missense, predicted to result in amino acid substitutions. A few small deletions, insertions and indels have been reported, which are predicted to result in in-frame loss or gain of one or two residues. Truncating variants appear to be rare. Only 3 splicing variants and 4 large deletions have been reported to date (Human Gene Mutation Database). In addition to ADAD, pathogenic variants in PSEN1 have been reported in patients with a clinical diagnosis of FTD (Raux et al. 2000; Evin et al. 2002).

Pathogenic variants in the APP gene account for up to 15% of ADAD cases (Bird 2015). Most variants are missense, predicted to result in amino acid substitutions. One small deletion, predicted to result in an in-frame deletion of one single residue (Tomiyama et al. 2008) and one indel predicted to result in two amino acid changes have been reported to date (Mullan et al. 1992). Several large duplications, some of which include the entire gene, have been reported (Rovelet-Lecrux et al. 2006; Wallon et al. 2012).

Pathogenic variants in the PSEN2 gene have been reported in about 200 families worldwide (Canevelli et al. 2014). They account for about 5% of cases with a clinical diagnosis of ADAD (Marcon et al. 2009; Wallon et al. 2012). With one exception, all variants are missense (HGMD). The exception is a truncating 2-bp deletion that is predicted to result in premature protein termination (Jayadev et al. 2010).

Frontotemporal dementia is inherited in about 40% of cases (Rosso et al. 2003). In most of these families, the disease is transmitted in an autosomal dominant manner. UBQLN2-Related FTD is inherited in an X-linked dominant manner, with reduced penetrance in females (Synofzik et al. 2012). The remaining cases appear to be simplex with no known affected relatives. It is unclear how many of the apparently sporadic cases of FTD are inherited with low penetrance (Cruts et al. 2006; Le Ber et al. 2007).

FTD is genetically heterogeneous. Several genes have been implicated in the disorder: C9orf72, CHMP2B, FUS, GRN, SQSTM1, MAPT, PSEN1, PSEN2, TARDBP, TREM2 and UBQLN2.

Overall, the vast majority of pathogenic variants are missense. A few truncating variants were reported in SQSTM1, GRN, PSEN1 and TREM2. Large pathogenic deletions appear to be rare. They were reported only in three genes: GRN, MAPT and PSEN1 (Iida et al. 2012; Maruyama et al. 2010; Pickering-Brown et al. 2006; Rohrer et al. 2013; Rovelet-Lecrux et al. 2009; Evin et al. 2002).

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

Testing Strategy

Because a pathogenic expansion of the GGGGCC hexanucleotide repeat in a non-coding region of C9orf72 has been reported as the most common genetic cause of ALS, FTD, and ALS-FTD (Renton et al. 2011; DeJesus-Hernandez et al. 2011; Byrne et al. 2012), we will first screen the patients’ DNA for the presence or absence of this expansion. When we find a pathogenic expansion, we stop testing. When there is no evidence for the pathogenic expansion, we sequence all coding exons of the 13 genes listed above using Next Generation Sequencing (NGS).

The repeat-primed PCR test is used as a screening method for the presence or absence of a pathogenic GGGGCC hexanucleotide repeat expansion located in the first intron of C9orf72. Of note, this test is not designed to determine the number of GGGGCC repeats in alleles carrying the pathogenic expansion (Warner et al. 1996; Renton et al. 2011). 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, likely pathogenic, or variants of uncertain significance 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

Patients with symptoms suggestive of Alzheimer's disease or frontotemporal dementia.

Genes

Official Gene Symbol OMIM ID
APP 104760
C9orf72 614260
CHMP2B 609512
FUS 137070
GRN 138945
MAPT 157140
PSEN1 104311
PSEN2 600759
SQSTM1 601530
TARDBP 605078
TREM2 605086
TYROBP 604142
UBQLN2 300264
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Related Tests

Name
Alzheimer Disease, Familial or Cerebral Amyloid Angiopathy via the APP Gene
Alzheimer Disease, Familial, Sequencing Panel
Alzheimer's Disease, Familial via the APP Gene, Exons 16 and 17
Alzheimer's Disease, Familial via the PSEN1 Gene
Alzheimer's Disease, Familial via the PSEN2 Gene
Amyotrophic Lateral Sclerosis / Motor Neuron Disease via the FUS Gene
Amyotrophic Lateral Sclerosis / Motor Neuron Disease via the TARDBP Gene
Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Sequencing Panel
Amyotrophic Lateral Sclerosis and Frontotemporal Dementia via the CHMP2B Gene
Amyotrophic Lateral Sclerosis via the C9orf72 Gene Hexanucleotide Repeat Expansion
Amyotrophic Lateral Sclerosis via the UBQLN2 Gene
Autism Spectrum Disorders and Intellectual Disability (ASD-ID) Comprehensive Sequencing Panel with CNV Detection
Classic Amyotrophic Lateral Sclerosis Sequencing Panel
Comprehensive Neuromuscular Sequencing Panel
Distal Hereditary Myopathy Sequencing Panel
Frontotemporal Dementia via the GRN Gene
Frontotemporal Dementia via the MAPT Gene
Neuronal Ceroid Lipofuscinoses (Batten Disease) Sequencing Panel
Paget Disease of Bone (PDB) Sanger Sequencing Panel
Paget Disease of Bone via the SQSTM1 Gene
Parkinson Disease Sequencing Panel
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy Sequencing Panel
TREM2-Related Disorders via the TREM2 Gene

CONTACTS

Genetic Counselors
Geneticist
Citations
  • Baker M. et al. 2006. Nature. 442: 916-9. PubMed ID: 16862116
  • Bäckman L. et al. 2004. Journal of Internal Medicine. 256: 195-204. PubMed ID: 15324363
  • Bird, 2015. Alzheimer Disease 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: 20301340
  • Blennow K. et al. 2006. Lancet. 368: 387-403. PubMed ID: 16876668
  • Borroni B. et al. 2010. Rejuvenation Research. 13: 509-17. PubMed ID: 20645878
  • Borroni B. et al. 2014. Neurobiology of Aging. 35: 934.e7-10. PubMed ID: 24139279
  • Brickell K.L. et al. 2006. Archives of Neurology. 63: 1307-11. PubMed ID: 16966510
  • Bruni A.C. et al. 2007. Neurology. 69: 140-7. PubMed ID: 17620546
  • Byrne S. et al. 2012. The Lancet. Neurology. 11: 232-40. PubMed ID: 22305801
  • Campion D. et al. 1999. American Journal of Human Genetics. 65: 664-70. PubMed ID: 10441572
  • Canevelli M. et al. 2014. Neuroscience and Biobehavioral Reviews. 42: 170-9. PubMed ID: 24594196
  • Cruts M. et al. 2006. Nature. 442: 920-4. PubMed ID: 16862115
  • DeJesus-Hernandez M. et al. 2011. Neuron. 72: 245-56. PubMed ID: 21944778
  • Evin G. et al. 2002. Neuroreport. 13: 917-21. PubMed ID: 11997713
  • Gatz M. et al. 2006. Archives of General Psychiatry. 63: 168-74. PubMed ID: 16461860
  • Gustafson L. 1993. Dementia. 4: 143-8. PubMed ID: 8401782
  • Harciarek M, Jodzio K. 2005. Neuropsychology Review. 15: 131-45. PubMed ID: 16328732
  • Human Gene Mutation Database (Bio-base).
  • Iida A. et al. 2012. Neurobiology of Aging. 33: 1843.e19-24. PubMed ID: 22402017
  • Jayadev S. et al. 2010. Brain : a Journal of Neurology. 133: 1143-54. PubMed ID: 20375137
  • Le Ber .I et al. 2007. Human Mutation. 28: 846-55. PubMed ID: 17436289
  • Levy E. et al. 1990. Science. 248: 1124-6. PubMed ID: 2111584
  • Majounie E. et al. 2012. The Lancet. Neurology. 11: 323-30. PubMed ID: 22406228
  • Marcon G. et al. 2009. Journal of Alzheimer's Disease. 16: 509-11. PubMed ID: 19276543
  • Maruyama H. et al. 2010. Nature. 465: 223-6. PubMed ID: 20428114
  • Mullan M. et al. 1992. Nature Genetics. 1: 345-7. PubMed ID: 1302033
  • Neary D. et al. 1998. Neurology. 51: 1546-54. PubMed ID: 9855500
  • Onyike C.U., Diehl-Schmid J. 2013. International Review of Psychiatry. 25: 130-7. PubMed ID: 23611343
  • Pickering-Brown S.M. et al. 2006. Brain. 129: 3124-6. PubMed ID: 17071927
  • Rademakers R. et al. 2012. Nature Reviews. Neurology. 8: 423-34. PubMed ID: 22732773
  • Rascovsky K. et al. 2011. Brain. 134: 2456-77. PubMed ID: 21810890
  • Raux et al. 2000. Neurology. 55: 1577-8. PubMed ID: 11094121
  • Renton A.E. et al. 2011. Neuron. 72: 257-68. PubMed ID: 21944779
  • Roeber S. et al. 2015. Journal of Neural Transmission. 122: 1715-9. PubMed ID: 26350633
  • Rogaev E.I. et al. 1995. Nature. 376: 775-8. PubMed ID: 7651536
  • Rohrer J.D. et al. 2013. Journal of Neurology, Neurosurgery, and Psychiatry. 84: 1411-2. PubMed ID: 23904625
  • Rosso S.M. et al. 2003. Brain. 126: 2016-22. PubMed ID: 12876142
  • Rovelet-Lecrux A. et al. 2006. Nature Genetics. 38: 24-6. PubMed ID: 16369530
  • Rovelet-Lecrux A. et al. 2009. Human Mutation. 30: E591-602. PubMed ID: 19263483
  • Rubino E. et al. 2012. Neurology. 79: 1556-62. PubMed ID: 22972638
  • Ryman D.C. et al. 2014. Neurology. 83: 253-60. PubMed ID: 24928124
  • Snowden J.S. et al. 2002. The British Journal of Psychiatry. 180: 140-3. PubMed ID: 11823324
  • Synofzik M. et al. 2012. Neurobiology of Aging. 33: 2949.e13-7. PubMed ID: 22892309
  • Thelen M. et al. 2014. Neurobiology of Aging. 35: 2657.e13-9. PubMed ID: 25042114
  • Tomiyama T. et al. 2008. Annals of Neurology. 63: 377-87. PubMed ID: 18300294
  • Van Langenhove T. et al. 2012. Annals of Medicine. 44: 817-28. PubMed ID: 22420316
  • Wallon D. et al. 2012. Journal of Alzheimer's Disease. 30: 847-56. PubMed ID: 22475797
  • Warner J.P. et al. 1996. Journal of medical genetics. 33: 1022-6. PubMed ID: 9004136
  • Wu C-H et al. 2012. Nature. 488: 499-503. PubMed ID: 22801503
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.
loading Loading... ×