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Focused Inherited Retinal Disorders Sequencing Panel with CNV Detection

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

Sequencing and CNV

Test Code Test Copy GenesCPT Code Copy CPT Codes
7537 AIPL1 81479,81479 Add to Order
CABP4 81479,81479
CEP290 81408,81479
CHM 81479,81479
CNGA1 81479,81479
CRB1 81406,81479
CRX 81404,81479
EYS 81479,81479
GUCY2D 81479,81479
IMPDH1 81479,81479
IQCB1 81479,81479
KCNJ13 81479,81479
LCA5 81479,81479
LRAT 81479,81479
NMNAT1 81479,81479
NR2E3 81479,81479
OTX2 81479,81479
PCARE 81479,81479
PDE6A 81479,81479
PDE6B 81479,81479
PRPF8 81479,81479
RD3 81479,81479
RDH12 81479,81479
RDH5 81479,81479
RHO 81404,81479
RP1 81404,81479
RPE65 81406,81479
RPGRIP1 81479,81479
SPATA7 81479,81479
TULP1 81479,81479
USH2A 81408,81479
Full Panel Price* $640
Test Code Test Copy Genes Total Price CPT Codes Copy CPT Codes
7537 Genes x (31) $640 81404(x3), 81406(x2), 81408(x2), 81479(x55) Add to Order

New York State Approved Test

Pricing Comments

We are happy to accommodate requests for testing single genes in this panel or a subset of these genes. The price will remain the list price. If desired, free reflex testing to remaining genes on panel is available.

This test is also offered via our exome backbone with CNV detection (click here). The exome-based test may be higher priced, but permits reflex to the entire exome or to any other set of clinically relevant genes.

Targeted Testing

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

Turnaround Time

The great majority of tests are completed within 20 days.

Clinical Sensitivity

Clinical sensitivity for the AIPL1 (4-8%), CEP290 (20%), CRB1 (10%), CRX (3%), GUCY2D (21%), LCA5 (1-2%), RDH12 (4%), RPE65 (3-16%), RPGRIP1 (5%), TULP1 (1.7%) genes is known (Weleber et al. 2013). The most common genes involved in autosomal recessive (AR) Retinitis Pigmentosa (RP) are USH2A (10-15%), PDE6A (2-5%), PDE6B (2-5%), RPE65 (2-5%), and CNGA1 (1-2%). PCARE and RHO each account for less than 1% of RP cases (Fahim et al. 2013. PubMed ID: 20301590). The most common genes involved in autosomal dominant (AD) RP are RHO (26-28% of RP cases), RP1 (6%), NR2E3 (0.5-1.5%), and PRPF8/RP13 (3%) (Fahim et al. 2013. PubMed ID: 20301590; Daiger et al. 2010. PubMed ID: 20238032; Sullivan et al. 2013. PubMed ID: 23950152). However, for other genes, due to the limited number of cases, estimation of clinical sensitivity is difficult (Hanein et al. 2004. PubMed ID: 15024725; Weleber et al. 2013. PubMed ID: 20301475). Together these genes account for 70-75% of the Leber Congenital Amaurosis cases (Wang et al. 2015. PubMed ID: 26047050; den Hollander et al. 2008. PubMed ID: 18632300).

A study by Perrault et al. (2000) identified two gross deletions and one duplication in GUCY2D out of 118 patients affected with Leber Congenital Amaurosis (Perrault et al. 2000. PubMed ID: 10951519). Copy number variants have also been reported in CEP290, CHM, CRB1, CRX, EYS, GUCY2D, LCA5, MERTK, NMNAT1, PDE6B, PRPF8, RDH12, RHO, RPE65, RPGRIP1, TULP1 and USH2A (Human Gene Mutation Database).

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Clinical Features

Inherited retinal disorders (IRD) are the leading cause of blindness in the western world (1 in 3000 people). Identifying the genetic cause for the IRD is challenging due to genetic heterogeneity. According to the World Health Organization (WHO) and the American Academy of ophthalmology (AAO), ~ 80% of blindness can be prevented or cured or the disease progression could be slowed if detected at early stages. Given these statistics, the importance of early and accurate diagnosis cannot be understated. Currently, molecular diagnosis of the IRD is gaining importance due to the emerging treatments such as gene therapy (Sahel et al. 2014. PubMed ID: 25324231; Chen et al. 2013. PubMed ID: 23661368).

Genetics

Identifying the genetic cause for the IRD is challenging due to genetic heterogeneity. So far, ~300 loci have been mapped and over 250 genes have been identified to be associated with retinal disorders (RetNet). This panel tests AIPL1, PCARE (C2orf71), CABP4, CEP290, CHM, CNGA1, CRB1, CRX, EYS, GUCY2D, IMPDH1, IQCB1, KCNJ13, LCA5, LRAT, NMNAT1, NR2E3, OTX2, PDE6A, PDE6B, PRPF8, RD3, RDH12, RDH5, RHO, RP1, RPE65, RPGRIP1, SPATA7, TULP1 and USH2A.

Pathogenic variants in AIPL1, CABP4, CEP290, CNGA1, EYS, IQCB1, LCA5, LRAT, NMNAT1, PCARE, PDE6A, RD3, RPGRIP1, SPATA7, TULP1 and USH2A cause autosomal recessive (AR) retinal disorders (Chen et al. 2013. PubMed ID: 23661368). Pathogenic variants in PRPF8, and OTX2 cause autosomal dominant (AD) retinal disorders (Bowne et al. 2006. PubMed ID: 16384941; Henderson et al. 2009. PubMed ID: 19956411; Swaroop et al. 1999. PubMed ID: 9931337; Zhao et al. 2006. PubMed ID: 16612614). CRB1, CRX, GUCY2D, IMPDH1, PDE6B, RDH5, RDH12, RP1, KCNJ13, RHO, NR2E3 and RPE65 are implicated in both AD and AR retinal disorders (Kohl et al. 2012. PubMed ID: 22901948; Piri et al. 2005. PubMed ID: 15629837; Wang et al. 2013. PubMed ID: 23847139; Weleber et al. 1993. PubMed ID: 8240110; Udar et al. 2003. PubMed ID: 12552567; Hanein et al. 2002. PubMed ID: 12325031; McKay et al. 2005. PubMed ID: 15623792; Abouzeid et al. 2006. PubMed ID: 16543197; Swaroop et al. 1999. PubMed ID: 9931337. 1999; Hejtmancik et al. 2008. PubMed ID: 18179896). Pathogenic variants in CHM are associated with X-linked choroideremia (van den Hurk et al. 2003. PubMed ID: 12827496). Pathogenic variants in these genes also cause other retinal disorders (Weleber. 2002. PubMed ID: 12187427; Wang et al. 2015. PubMed ID: 26047050; Wang et al. 2013. PubMed ID: 23847139; Online Mendelian Inheritance in Man; Human Gene Mutation Database).

See individual gene test descriptions for information on molecular biology of gene products and spectra of pathogenic variants.

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 regions not captured or with insufficient number of sequence reads.

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

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

This panel provides 100% coverage of all coding exons of the genes listed, plus ~10 bases of flanking noncoding DNA. We define coverage as ≥20X NGS reads or Sanger sequencing.

Indications for Test

Candidates for this test are inherited retinal disorders patients, family members of patients who have known pathogenic variants and carrier testing for at-risk family members.

Diseases

Name Inheritance OMIM ID
Choroideremia XL 303100
Leber Congenital Amaurosis 1 AR 204000
Leber Congenital Amaurosis 10 AR 611755
Leber Congenital Amaurosis 11 AD 613837
Leber Congenital Amaurosis 12 AR 610612
Leber Congenital Amaurosis 13 AR 612712
Leber Congenital Amaurosis 14 AR 613341
Leber Congenital Amaurosis 15 AR 613843
Leber Congenital Amaurosis 16 AR 614186
Leber Congenital Amaurosis 2 AR 204100
Leber Congenital Amaurosis 3 AR 604232
Leber Congenital Amaurosis 4 AR 604393
Leber Congenital Amaurosis 5 AR 604537
Leber Congenital Amaurosis 6 AR 613826
Leber Congenital Amaurosis 7 AR 613829
Leber Congenital Amaurosis 8 AR 613835
Leber Congenital Amaurosis 9 AR 608553
Microphthalmia Syndromic 5 AD 610125
Night Blindness, Congenital Stationary, Rambusch Type AD 163500
Night Blindness, Congenital Stationary, Rhodopsin-Related AD 610445
Night Blindness, Congenital Stationary, Type 2B AR 610427
Pigmentary Retinal Dystrophy AD,AR 136880
Retinitis Pigmentosa 1 AD,AR 180100
Retinitis Pigmentosa 13 AR 600059
Retinitis Pigmentosa 14 AR 600132
Retinitis Pigmentosa 20 AR 613794
Retinitis Pigmentosa 25 AR 602772
Retinitis Pigmentosa 37 AD,AR 611131
Retinitis Pigmentosa 39 AD,AR 613809
Retinitis Pigmentosa 4 AD 613731
Retinitis Pigmentosa 40 AR 613801
Retinitis Pigmentosa 43 AR 613810
Retinitis Pigmentosa 49 AR 613756
Retinitis Pigmentosa 54 AR 613428
Senior-Loken Syndrome 5 AR 609254
Usher Syndrome, Type IIa AR 276901

Related Tests

Name
RHO-Related Disorders via RHO Gene Sequencing with CNV Detection
RLBP1-Related Disorders via RLBP1 Gene Sequencing with CNV Detection
RPE65-Associated Disorders via RPE65 Gene Sequencing with CNV Detection
TULP1-Associated Disorders via TULP1 Gene Sequencing with CNV Detection
Agnathia-Otocephaly Complex Sequencing Panel with CNV Detection
Anophthalmia / Microphthalmia Sequencing Panel with CNV Detection
Autosomal Dominant Retinitis Pigmentosa Sequencing Panel with CNV Detection
Autosomal Recessive Retinitis Pigmentosa Sequencing Panel with CNV Detection
Autosomal Recessive Retinitis Pigmentosa via EYS Gene Sequencing with CNV Detection
Bardet-Biedl Syndrome Sequencing Panel with CNV Detection
Choroideremia via CHM Gene Sequencing with CNV Detection
Ciliopathy Sequencing Panel with CNV Detection
Combined Pituitary Hormone Deficiency (CPHD) Sequencing Panel with CNV Detection
Cone-Rod Dystrophy Sequencing Panel with CNV Detection
Cone-Rod Dystrophy via CABP4 Gene Sequencing with CNV Detection
Congenital Limb Malformation Sequencing Panel with CNV Detection
Flecked Retina Disorder Sequencing Panel with CNV Detection
Fundus Albipunctatus With or Without Cone Dystrophy via RDH5 Gene Sequencing with CNV Detection
Hereditary Cystic Kidney Diseases Sequencing Panel with CNV Detection
Joubert and Meckel-Gruber Syndromes via CEP290 Gene Sequencing with CNV Detection
Leber Congenital Amaurosis 1 (LCA1) and Cone-Rod dystrophy 6 (CORD6) via GUCY2D Gene Sequencing with CNV Detection
Leber Congenital Amaurosis 10 (LCA10) via CEP290 Gene Sequencing with CNV Detection
Leber Congenital Amaurosis 13 (LCA13), Retinitis Pigmentosa 53 (RP53) and Early Onset Cone-Rod Dystrophy (CORD) via RDH12 Gene Sequencing with CNV Detection
Leber Congenital Amaurosis 14 (LCA14) or Early Onset Retinal Dystrophy (EORD) and Juvenile Retinitis Pigmentosa via LRAT Gene Sequencing with CNV Detection
Leber Congenital Amaurosis 4 (LCA4) via AIPL1 Gene Sequencing with CNV Detection
Leber Congenital Amaurosis and Retinitis Pigmentosa via CRB1 Gene Sequencing with CNV Detection
Leber Congenital Amaurosis Sequencing Panel with CNV Detection
Leber Congenital Amaurosis via CRX Gene Sequencing with CNV Detection
Neonatal Crisis Sequencing Panel with CNV Detection
Nephronophthisis and Senior-Loken Syndrome Sequencing Panel with CNV Detection
Nephronophthisis and Senior-Loken Syndrome via IQCB1/NPHP5 Gene Sequencing with CNV Detection
Retinitis Pigmentosa (includes RPGR ORF15) Sequencing Panel with CNV Detection
Retinitis Pigmentosa via CNGA1 Gene Sequencing with CNV Detection
Retinitis Pigmentosa via IMPDH1 Gene Sequencing with CNV Detection
Retinitis Pigmentosa via NR2E3 Gene Sequencing with CNV Detection
Retinitis Pigmentosa via PRPF8 Gene Sequencing with CNV Detection
Retinitis Pigmentosa via PRPH2 (RDS) Gene Sequencing with CNV Detection
Septo-optic Dysplasia Spectrum Sequencing Panel with CNV Detection
Stargardt Disease (STGD) and Macular Dystrophies Sequencing Panel with CNV Detection
Syndromic Microphthalmia via OTX2 Gene Sequencing with CNV Detection
Usher Syndrome Sequencing Panel with CNV Detection
Usher Syndrome Type 2 via USH2A Gene Sequencing with CNV Detection
X-linked Retinitis Pigmentosa (XLRP) (includes RPGR ORF15) and Choroideremia Sequencing Panel with CNV Detection

CONTACTS

Genetic Counselors
Geneticist
Citations
  • Abouzeid et al. 2006. PubMed ID: 16543197
  • Bowne et al. 2006. PubMed ID: 16384941
  • Chen et al. 2013. PubMed ID: 23661368
  • Daiger et al. 2010. PubMed ID: 20238032
  • den Hollander et al. 2008. PubMed ID: 18632300
  • Fahim et al. 2013. PubMed ID: 20301590
  • Hanein et al. 2002. PubMed ID: 12325031
  • Hanein et al. 2004. PubMed ID: 15024725
  • Hejtmancik et al. 2008. PubMed ID: 18179896
  • Henderson et al. 2009. PubMed ID: 19956411
  • http://www.omim.org/
  • Human Gene Mutation Database (Bio-base).
  • Kohl et al. 2012. PubMed ID: 22901948
  • McKay et al. 2005. PubMed ID: 15623792
  • Perrault et al. 2000. PubMed ID: 10951519
  • Piri et al. 2005. PubMed ID: 15629837
  • RetNet: Genes and Mapped Loci Causing Retinal Diseases
  • Sahel et al. 2014. PubMed ID: 25324231
  • Sullivan et al. 2013. PubMed ID: 23950152
  • Swaroop et al. 1999. PubMed ID: 9931337
  • Udar et al. 2003. PubMed ID: 12552567
  • van den Hurk et al. 2003. PubMed ID: 12827496
  • Wang et al. 2013. PubMed ID: 23847139
  • Wang et al. 2015. PubMed ID: 26047050
  • Weleber et al. 1993. PubMed ID: 8240110
  • Weleber et al. 2013. PubMed ID: 20301475
  • Weleber. 2002. PubMed ID: 12187427
  • Zhao et al. 2006. PubMed ID: 16612614
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TEST METHODS

Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes

Test Procedure

NextGen Sequencing

We use a combination of Next Generation Sequencing (NGS) and Sanger sequencing technologies to cover the full coding regions of the listed genes plus ~10 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.

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 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.

Deletion and Duplication Testing via NGS

Copy number variants (CNVs) such as deletions and duplications are detected from next generation sequencing 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 PCR, aCGH or MLPA before they are reported.
Analytical Validity

NextGen Sequencing

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

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

Deletion and Duplication Testing via NGS
 
In general, sensitivity for single, double, or triple exon CNVs is ~80% and for CNVs of four exon size or larger is close to 100%, but may vary from gene-to-gene based on exon size, depth of coverage, and characteristics of the region.
Analytical Limitations

NextGen Sequencing

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 ~10 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 and Duplication Testing via NGS
 
This CNV calling algorithm used in this test detects most deletions and duplications; 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. single vs. two or more exons), and inadequate coverage. 
 
Balanced translocations or inversions within a targeted gene, or large unbalanced translocations or inversions that extend beyond the genomic location of a targeted gene are not detected.
 
In nearly all cases, our ability to determine the exact copy number change within a targeted gene is limited. In particular, when we find copy excess within a targeted gene, we cannot be certain that the region is duplicated, triplicated etc. In many duplication cases, we are unable to determine the genomic location or the orientation of the duplicated segment with respect to the gene. In particular, we often cannot determine if the duplicated segment is inserted in tandem within the gene or inserted elsewhere in the genome. Similarly, we may not be able to determine the orientation of the duplicated segment (direct or inverted), and whether it will disrupt the open reading frame of the given gene.
 
Our ability to detect CNVs due to somatic mosaicism is limited.
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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