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The clinical molecular laboratory, which carries both CLIA and CAP accreditations, offers molecular genetics services such as DNA extraction, identification and validation of public and proprietary genetic variants, real-time PCR assay design and validation, Sangers sequencing with ABI3730xl high throughput instruments and customized clinical reporting.

Main Service Offering

  • Genomic DNA extraction
  • Assay design, development, and validation for:
    - Single nucleotide polymorphisms (SNP)
    - Small insertions and deletions (indel)
    - Fragment analysis
    - Microsatellites
  • High-throughput genotyping
  • Mutation confirmation for Next Generation Sequencing

Areas of Expertise

  • Assay development for validation and genotyping of SNPs and small insertion or deletion mutations in complex areas of the genome.
  • DNA extraction from blood, saliva, buccal swabs and tissue.
  • Mutation confirmation for Next-Generation Sequencing data as well as other genomic technologies.
  • High-throughput genotyping and Sanger sequencing for clinical trials.
  • Customized data reporting.
  • Fast turn-around-time at our Louisville logistic hub location.
 

Quote / Info

Call for information: 1-800-688-2248

List of Clinical Assays Available

Gene

dbSNP#

Nucleotide Change

Variant

COMT

rs4680

472G>A

Val158Met

CYP1A2

rs2069514

-3860G>A

upstream

CYP1A2

rs35694136

-2467delT

upstream

CYP1A2

rs2069526

-739T>G

intron

CYP1A2

rs12720461

-729C>T

intron

CYP1A2

rs762551

-163C>A

intron

CYP2B6

rs3745274

516G>T

Gln172His

CYP2B6

rs2279343

785A>G

Lys262Arg

CYP2B6

rs28399499

983T>C

Ile328Thr

CYP2B6

rs3211371

1459C>T

Arg287Cys

CYP2C19

rs11188072

99C>T

upstream

CYP2C19

rs12248560

-806C>T

upstream

CYP2C19

rs28399504

1A>G

Met1Val

CYP2C19

rs17885098

99C>T

Pro33Pro

CYP2C19

rs4986893

636G>A

Trp212Ter

CYP2C19

rs6413438

680C>T

Pro227Leu

CYP2C19

rs4244285

681G>A

Pro227splice

CYP2C9

rs1799853

430C>T

Arg144Cys

CYP2C9

rs7900194

449G>A

Arg150His

CYP2C9

rs9332131

818delA

Lys273Arg fs*

CYP2C9

rs28371685

1003C>T

Arg335Trp

CYP2C9

rs1057910

1075A>C

Ile359Leu

CYP2C9

rs56165452

1076T>C

Ile359Thr

CYP2C9

rs28371686

1080C>G

Asp360Glu

CYP2C9

rs1057911

1425A>T

Gly475Gly

CYP2D6

rs1135840

4180G>C

Ser486Thr

CYP2D6

rs765776661

4125_4133dupGTGCCCAC

468_470dupVPT

CYP2D6

rs267608319

4042G>A

Arg440His

CYP2D6

rs72549346

3259_3260insGT

Gln364fs

CYP2D6

rs59421388

3183G>A

Val338Met

CYP2D6

rs28371725

2988G>A

splice

CYP2D6

rs5030867

2935A>C

His324Pro

CYP2D6

rs16947

2850C>T

Arg296Cys

CYP2D6

rs5030656

2615_2617delAAG

Lys281del

CYP2D6

rs35742686

2549delA

Arg259Gly fs

CYP2D6

rs72549353

2539_2542delAACT

frameshift

CYP2D6

rs72549354

1973_1974insG

Leu213Thr fs

CYP2D6

rs3892097

1846G>A

splice

CYP2D6

rs5030865 

1758G>A

Gly169Arg

CYP2D6

rs5030655

1707delT

Trp152Gly fs

CYP2D6

rs28371706

1023C>T

Thr107Ile

CYP2D6

rs201377835

883G>C

splice

CYP2D6

rs774671100

4337insT (137_138insT)

Leu47Ala fs

CYP2D6

rs5030862

124G>A

Gly42Arg

CYP2D6

rs1065852

100C>T

Pro34Ser

CYP2D6

rs769258

31G>A

Val11Met

CYP2D6

rs1080985

-1584C>G

upstream

CYP3A4

rs35599367

15389C>T

intron

CYP3A4

rs2740574

-392A>G

upstream

CYP3A5

rs41303343

27131_27132insT

Thr346Tyr fs

CYP3A5

rs10264272

14690G>A

splice

CYP3A5

rs776746

6986A>G

splice

DPYD

rs67376798

97547947T>A

Asp877Val

DPYD

rs3918290

67887533 G>A

splice

DPYD

rs55886062

1679T>G

Ile560Ser

DRD2

rs1799978

-241A>G

non-coding

F2

rs1799963

1828G>A

3'UTR

F5

rs6025

1601G>A

Arg534Gln

GRIK4

rs1954787

120663363T>C

intron

HTR2A

rs7997012

362-2211T>C

intron

HTR2C

rs3813929

-759C>T

upstream

IFNL4

rs12979860

-1595G>A

intron of pseudogene

MTHFR

rs1801131

1409A>C

Glu470Ala

MTHFR

rs1801133

788C>T

Ala263Val

NUDT15

rs116855232

415C>T

Arg139His

OPRM1

rs1799971

397A>G

Asn133Asp

SLCO1B1

rs4149015

-11187G>A

upstream

SLCO1B1

rs4149056

37041T>C

Val17Ala

TPMT

rs1142345

719A>G

Tyr225Cys

TPMT

rs1800584

18131012C>T

splice

TPMT

rs1800460

460G>A

Ala154Thr

TPMT

rs1800462

238G>C

Ala80Pro

UGT1A1

rs1976391

-2950A>G

upstream intron

UGT1A1

rs4148323

211G>A

Gly71Arg

VKORC1

rs9923231

-1639G>A

upstream

     

*fs = framshift

 

Accreditation

Eurofins clinical staff has more then 30 years of experience with molecular testing. Contact us today for more information.

CLIA

Sequencing projects are available for clinical applications, accredited under the Clinical Laboratory Improvement Amendments, from our local, Louisville, KY laboratory. Typical projects includeo DNA extraction, identification and validation of public and proprietary genetic variants, real-time PCR assay design and validation, Sangers sequencing with ABI3730xl high throughput instruments and customized clinical reporting. More information is available on the CLIA tab.

Request Info

   
CAP-Icon

CAP allows for testing on humans to animals, and is one of the highest accreditations a laboratory can receive. Projects are run from our local, Louisville, KY laboratory. More information is available on the CLIA & CAP tab.

Request Info

 

   
Pdficon Pdficon
CAP Accredidation CLIA Certification

Sequencing under Good Laboratory Practices (GLP)

Please note that these services will be performed at our laboratory in Ebersberg, Germany.

Sequence confirmation by primer walking or by PCR amplification and sequencing.

To analyse DNA for non-clinical laboratory studies, we offer GLP certified sequencing services:

  • Quality control of incoming DNA
  • Design and synthesis of required primers
  • Double strand sequence confirmation (2fold or 4fold coverage) by primer walking or by PCR amplification and sequencing
  • Guaranteed accuracy of final data: 2fold coverage: > 99.999% and 4fold coverage: > 99.99999%

Nucleic acid extraction, reverse transcriptase or DNA cloning are available on demand.

Study deliverables:

  • Customised study plan and study report according to customers' requirements
  • Detail description of utilised materials and procedures
  • Alignment of sequences based on Q30 quality clipped reads (accuracy 99.9%) and coverage overview
  • Quality check and report for the generated consensus sequence
  • Raw sequence data with quality assignment
  • Verification of a reference sequence and variation report if applicable
  • Comprehensive information about detected mutations (mutation report if applicable)
  • Signed quality assurance (QA) statement
  • Storage of test items for one year
  • Archiving study data for 15 years

To ensure the quality of our GLP certified sequencing service, we are routinely assessed by first and second external auditors. Additionally we perform regularly facility and process audits.

Request Info

Sequencing services: GLP certified, ISO 9001 and ISO 17025 accredited

Our QM and QA system for DNA sequencing is based on regulatory requirements, (OECD-GLP, acknowledged standards (ISO 9001 / ISO 17025) and best practices (CLSI).

Our long-year expertise is just one of the reasons why our GLP certified sequencing service is excellent for non-clinical laboratory studies. Our products and services are also certified according to ISO 9001, and accredited according to ISO 1702.

Our GLP certified sequencing service is based on OECD GLP and includes the following features:

  • Fully validated procedures and equipment
  • Regularly equipment calibrations
  • Continuous personnel training on SOP's and procedures
  • Restricted laboratory access
  • Established SOP's and program procedures
  • Complete study documentation
  • Complete sample tracking for uncompromised sample and data integrity (chain of custody)
  • All studies are inspected by our independent quality assurance department
  • Comprehensive reporting including study plan and final study report

Eurofins Genomics is frequently assessed by auditors from DEKRA (ISO 9001 / ISO 13485), DAkkS (ISO 17025) and LGL (GLP), and different customers.

Sequencing services: GLP certified, ISO 9001 and ISO 17025 accredited

Sequencing is performed according to standard methods and in compliance with

  • CLSI Guideline MM9-A; Vol. 24 Nr. 40, 2005; Nucleic Acid Sequencing Methods in Diagnostic Laboratory Medicine, Approved Guideline, 2005

Conduct of sequencing studies is performed according to

  • OECD Guideline ENV/MC/CHEM(98)17 (rev.1999): The Principles of Good Laboratory Praxis (Monograph No. 01) and OECD Guideline ENV/JM/MONO(1999)23 (rev. 2002): Short Term Study and GLP (Monograph No. 07)

Quality assurance (QA) activities related to sequencing studies (review of the study plan, inspection of study, study report and raw data) are conducted according to

  • OECD Guideline ENV/JM/MONO (1999) 20 (03-October-2002): Quality Assurance and GLP

Accreditation

GLP

Sequencing projects are available under Good Laboratory Practices (GLP) from our facility in Ebersberg, Germany. Projects include sequence confirmation by primer walking or by PCR amplification and sequencing. More information is available on the GLP tab.

Request Info

   

 

 

Eurofins Genomics has earned high accredication for sequencing within clinical and regulated industries

 

CLIA

Sequencing projects are available for clinical applications, accredited under the Clinical Laboratory Improvement Amendments, from our local, Louisville, KY laboratory.  Typical projects includeo DNA extraction, identification and validation of public and proprietary genetic variants, real-time PCR assay design and validation, Sangers sequencing with ABI3730xl high throughput instruments and customized clinical reporting. More information is available on the CLIA tab.

Request Info

   
CAP-Icon

CAP allows for testing on humans to animals, and is one of the highest accreditations a laboratory can receive.  Projects are run from our local, Louisville, KY laboratory. More information is available on the CLIA & CAP tab.

Request Info

 

   
GLP

Sequencing projects are available under Good Laboratory Practices (GLP) from our facility in Ebersberg, Germany.  Projects include sequence confirmation by primer walking or by PCR amplification and sequencing.  More information is available on the GLP tab.

Request Info