EQA Schemes Catalogue 2015 - erndim.org · Pseudo-uridine Thymidine Thymine Uracil Uric acid...

European Research Network for evaluation and improvement of screening, Diagnosis and treatment of Inherited disorders of Metabolism

EQA Schemes

Catalogue 2015

ERNDIM Administration Office

Manchester Centre for Genomic Medicine

6th floor, St Mary’s Hospital

Oxford Road, Manchester

M13 9WL, UK

Tel: +44 161 276 6741

Fax: +44 161 850 1145

E-mail: [email protected]

Web: www.erndim.org

2015 EQA Scheme Catalogue

30 September 2014 www.erndim.org of 12

Contents

How to participate in our EQA schemes …………………………………………..…………………… 3

EQA Participation Fees ………………………………………………………………………...…………… 3

Laboratory Support Grants ………………………………………………………………………….…..… 3

Educational Participation …………………………………………………………………………….…..… 3

Certificates of Participation ………………………………………………………………………….…….. 3

EQA Scheme Timetables ……………………………………………………………………….………….. 3

EQA Schemes …………………………………………………………………………………………...….….. 4

1. Quantitative Schemes …………………………………………………………………………..…….. 4

Cystine in White Blood Cells ………………………………………………..………………….….. 4

Lysosomal Enzymes (fibroblasts)…………………………..………………………………….….. 4

Quantitative Amino Acids (serum) ………………………………………………………………... 5

Quantitative Organic Acids (urine) ………………………………………...…….………………... 5

Purines and Pyrimidines (urine) …………………...…………………………..………………….. 6

Special Assays in Serum …………………………………………………………….…………….. 6

Special Assays in Urine …………………………………………………………………………..... 7

2. Qualitative Schemes ……………………………………………………………………………….. 7

Acyl carnitines in dried blood spots ……………………………………….…………………..….. 7

Congenital Disorders of Glycosylation (serum) ………………………………………..…….….. 8

Diagnostic Proficiency Testing (urine) …………………………………….…….……………….. 8

Qualitative Organic Acids (urine) ………………………………………………………………….. 9

Urine Mucopolysaccharides ……………………………………………………………………….. 9

EQA Schemes 2015 Price List ……………………………………...……………………………….……. 10

Invoices ……………………………………...……………………………….………………………………….. 11

Payment Information ……………………………………...……………………………….………………… 11

Terms and Conditions of EQA Scheme Participation ……………………………………...……… 12

http://www.erndim.org/



How to participate in our EQA schemes We are moving to online registration for the 2015 EQA schemes and all existing ERNDIM EQA participants will be sent details of how to access the ERNDIM Registration Website in September 2014.

The Registration Website will show all the information which is held by ERNDIM for your laboratory. Please check if the information is correct, update it where necessary and select the EQA schemes that you wish to participate in during 2015.

New participants can email the ERNDIM Administration office ([email protected]) to request access to the ERNDIM Registration Website.

All EQA registrations must be submitted by 7th

November 2014. If you have any problems with registering for the 2015 EQA schemes please contact [email protected].

EQA participation fees The price list for the 2015 EQA schemes can be found on page 10 of this catalogue and also on the ERNDIM website under EQA schemes.

Laboratory Support Grants A limited number of Laboratory Support Grants are available to provide financial support for laboratories which due to financial restrictions find it difficult to fund participation in one or more of the ERNDIM EQA schemes.

Laboratory Support Grants are awarded annually by the ERNDIM Board on a competitive basis with the aim of allowing laboratories to extend their repertoire of EQA scheme participation.

If you would like to apply for a Laboratory Support Grant please complete and return the application form, which can be found on the ERNDIM website under Training and Education/Grants.

Educational participation Educational Participation is open to laboratories that are participating in an EQA scheme to help with setting up a new test but are not yet offering a clinical service.

Participants that select Educational Participation when registering for an EQA scheme MUST send a completed and signed Educational Declaration form to the ERNDIM Administration office.

Educational Participation in a scheme is not confirmed until the Administration office confirms that your application has been accepted.

Please note the number of Educational Participants per scheme is limited and Educational Participation is not available for the DPT scheme.

The Educational Participation Declaration form can be found on the ERNDIM website under Training & Education/Educational Documents.

A separate Declaration form needs to be completed for each EQA scheme in which you wish to be an Educational Participant.

EQA scheme timetables Sample Dispatches

For Quantitative EQA schemes sample dispatch dates will be given on the ERNDIM website by the end of February 2015.

For Qualitative EQA Schemes, which use real clinical samples, sample dispatch dates may vary depending on availability of suitable material. The dispatch dates for these schemes will be posted on the ERNDIM website as they become available.

Analysis and Reporting

You will receive instructions on sample testing and reporting processes with the sample shipments.

Reports and results will be released according to individual scheme timetables.

Certificates of Participation

A certificate showing which EQA schemes you have participated in and your performance in those schemes is issued after the end of the scheme year when all scheme results have been finalised.


mailto:[email protected]


http://www.erndim.org/home/qascheme.asp

http://www.erndim.org/home/training.asp?m=4&s=9





EQA Schemes

1. Quantitative EQA Schemes

Cystine in White Blood Cells

Aim: Comparison of analysis of Cystine in White Blood Cells (WBC)

Status: Full ERNDIM EQA scheme since 2005

Geographic area: Worldwide No. of samples/year: 8 pairs of protein and WBC pellets

Eligibility requirements: None Sample matrix: Protein is lyophilised, WBC pellets are liquid

No. of registrations (2014): 35 Volume/sample: Pellet equivalent to 5 ml whole blood

Analytes (2015): Cystine (nmol 1/2 cys/mg protein) (SNT sample)

Cystine (nmol/aliquot) (SNT sample)

Protein (PP sample)

No. of shipments/year: One shipment of 8 samples in January- March

Submission deadlines: 8 deadlines at 6-8 weeks intervals from March to November

Submission of results: Via Results website

Reports: Interim reports available from the Results website during the scheme year

Annual report published in January-March of the following year

Scientific Advisor: Dr Mick Henderson, [email protected]

Scheme Organiser: Dr. Cas Weykamp, [email protected]

Lysosomal Enzymes (fibroblasts)

Aim: Testing of reproducibility and ability to detect enzyme deficiencies in Lysosomal storage disorders

Status: Full ERNDIM EQA scheme since 2011 (ran as a pilot scheme 2006 – 2010)

Geographic area: Worldwide No. of samples/year: 8

Eligibility Requirements: None Sample matrix: Lyophilised fibroblasts

No. of registrations (2014): 77 Volume/sample: 0.5 mg lyophilised protein/standard specimen

Expected Analytes (2015):

Please note, as these are clinical samples enzymes may

vary depending on the availability of samples.

nmol/h/mg & % mean control nmol/17h/mg & % mean control

N-acetylgalactosamine-6-sulfatase alpha-Galactosidase beta-Galactosidase alpha-Glucosidase beta-Glucosidase beta-Hexosaminidase A alpha-Iduronidase Sphingomyelinase

Galactosylceramidase

Heparan sulphamidase

mg/vial

Protein


Submission deadlines: Lysosomal Enzymes only: 4 deadlines at approximately 2 month intervals from March to November


Reports: Interim reports can be downloaded from the Results website during the scheme year; final report available at the end of the scheme year


Scientific Advisor: Dr Kees Schoonderwoerd, [email protected]









Quantitative Amino Acids (serum)

Aim: Comparison of Amino Acid analysis in a lab with respect to median and target values



Eligibility requirements: None Sample matrix: Lyophilised, spiked human serum

No. of registrations (2014): 267 Volume/sample: 1 ml/vial

Analytes (2014):

Please note, there is a core panel of amino acids which are included every year, but amino acids marked with * may vary from year to year

2-Aminobutyric acid Alanine Arginine Asparagine

Aspartic Acid Aspartyl glucosamine * Citrulline Cystathionine *

Cystine Glutamic acid Glutamine Glycine

Histidine Histidine 1-Methyl Histidine 3-Methyl Hydroxyproline

Isoleucine Leucine Lysine Methionine

Ornithine Phenylalanine Pipecolic acid * Proline

Sarcosine * Serine Taurine Threonine

Tyrosine Valine






Scientific Advisor: Prof. Brian Fowler, [email protected]


Quantitative Organic Acids (urine)

Aim: Comparison of Organic Acid analysis in a lab with respect to median and target values



Eligibility Requirements: None Sample matrix: Lyophilised, spiked human urine


Analytes (2015): 2-OH Glutaric acid 3 methylglutaric acid 3-OH-3 methylglutaric acid 3-OH-Isobutyric acid

3-OH-Isovaleric acid 4-OH-Butyric acid Adipic acid Creatinine

D,L- Glyceric acid Ethylmalonic acid Fumaric acid Glutaric acid

Glycolic acid Hexanoylglycine Keto-glutaric acid Malic acid

Methylmalonic acid Mevalonic acid N-acetylaspartic acid Pyroglutamic acid

Sebacic acid Suberic acid Tiglylglycine Vanillactic acid






Scientific Advisor: Dr Geert Martens, [email protected]









Purines and Pyrimidines (urine)

Aim: Comparison of Purine and Pyrimidine analysis in a lab with respect to median and target values



Eligibility Requirements: None Sample matrix: Lyophilised, spiked human urine


Analytes (2014): 5-OH methyluracil Adenine Adenosine AICAR

Creatinine Deoxy-adenosine Deoxy-guanosine Deoxy-inosine

Deoxy-uridine Dihydro-thymine Dihydro-uracil Guanosine

Hypoxanthine Inosine Orotic acid Orotidine

Pseudo-uridine Thymidine Thymine Uracil

Uric acid Xanthine






Scientific Advisor: Dr Jörgen Bierau, [email protected]


Special Assays in Serum

Aim: Comparison of outcome in heterogeneous group of lab-assays, relevant to the diagnosis of inborn errors of metabolism, in respect to median and target values. In addition recovery of added analyte, precision, and analytical linearity are tested



Eligibility Requirements: None Sample matrix: Lyophilised, spiked human serum


Analytes (2015): 3 OH Butyrate 7-Dehydrocholesterol 7-ketocholesterol Carnitine Free

Cholestane-3b,5a,6b-triol

Cholestanol Creatine Galactose

Glutarylcarnitine (C5DC)

Guanidine acetic acid Homocysteine Lactic acid

L - Pipecolic acid LysoGb3 Methylmalonic acid

Octanoylcarnitine (C8)

Palmitoylcarnitine (C16)

Phytanic acid Pristanic acid Pyruvic acid

Stearoylcarnitine (C18) Very Long Chain Fatty Acids (C22/24 and 26:0)






Scientific Advisor: Dr Begoña Merinero, [email protected]









Special Assays in Urine

Aim: Comparison of outcome of a heterogeneous group of lab-assays, relevant to the diagnosis of inborn errors of metabolism, in respect to median and target values. In addition recovery of added analyte, precision and analytical linearity are tested



Eligibility Requirements: None Sample matrix: Lyophilised, spiked human serum


Analytes (2015): 5-OH-Indolacetic acid (5HIAA)

Carnitine Free Creatine Creatinine

Galactitol Glycolate Guanidinoacetate Homovanillic acid (HVA)

Lactic acid L - Pipecolic acid Mucopolysaccharides Orotic acid

Oxalic acid Sialic acid Sulphocysteine Succinylacetone






Scientific Advisor: Dr Begoña Merinero, [email protected]


2. Qualitative Schemes The qualitative schemes use clinical samples as the EQA materials.

For schemes which are organised by more than one centre participants will be assigned to a centre by the Administration office.

Acyl carnitines in dried blood spots

Aim: To educate and assess the ability of laboratories to detect inherited disorders resulting in recognisable whole blood acyl carnitine profiles

Status: Operated since 2003 (London only). In 2010 the scheme was split between 2 organising centres (London and Heidelberg) due to increasing participant numbers.


Eligibility Requirements: None Sample matrix: Dried blood spots on S&S903 filter paper

No. of registrations (2014): 129 (60-65 per centre)

Volume/sample: 35-50 microlitre initial blood volume

Analytes: Dependent upon disorder

No. of shipments/year: 2 shipments of 3 samples. Shipment dates are dependant upon sample supply.

Submission deadlines: 2 deadlines (6-8 weeks after sample shipment)

Submission of results: Via email, fax or post to Scientific Advisor

Reports: Interim reports are emailed to participants twice per year


Scientific Advisors: London: Dr Charles Turner, [email protected] Heidelberg: Dr. Claus-Dieter Langhans, [email protected]

Scheme Organisers: London: Dr Charles Turner, [email protected] Heidelberg: Dr. Claus-Dieter Langhans, [email protected]










Congenital Disorders of Glycosylation (serum)

Aim: Qualitative interpretation of sialotransferrin profiles in the screening for Congenital Disorders of Gycosylation (CDG)

Status: Full ERNDIM EQA scheme since 2010 (ran as a pilot scheme in 2008 & 2009)


Eligibility Requirements: None Sample matrix: Lyophilised Human plasma/serum

No. of registrations (2014): 60 Volume/sample: 25 microlitres

Analytes: Sialotransferrin isoforms

No. of shipments/year: One shipment of 8 samples per year in January- March

Submission deadlines: 2 deadlines (April & September)

Submission of results: Via email to Scientific Advisor

Reports: Annual report published in January-March of the following year

Scientific Advisor: Dr. D.J. Lefeber, [email protected]

Scheme Organiser: Dr. C. Weykamp, [email protected]

Diagnostic Proficiency Testing (urine)

Aim: To assess test selection, analysis, interpretation and advice in the performance of tests related to the detection of inherited metabolic disorders

Status: Operated since 1990 (Netherlands only). In 1998 a further 3 organising centres were added (Czech Republic, France and UK) and in 2006 a fifth centre (Switzerland) was added as part of the EuroGentest project

Geographic area: Worldwide (each organising centre covers a separate geographic area)

Eligibility Requirements: Any diagnosable sample can be sent but participants should be able to perform this core panel of tests: amino acids, organic acids, oligosaccharides, Mucopolysaccharides. If your laboratory does not offer this core panel of tests it may not be possible to obtain satisfactory performance. The use of cluster labs, for instance for purines & pyrimidines, is acceptable but the participant lab is responsible for the results submitted.

No. of specimens/year: 6 Sample matrix: Heat-treated human urine


Volume/sample: 5-10 ml/vial


No. of shipments/year: 1 shipment of 6 samples in March–May

Submission deadlines: 2 deadlines in May - July




Scientific Advisors: Czech Republic: Prof Viktor Kožich, [email protected]

France: Dr Christine Vianey-Saban, [email protected]

Netherlands: Dr George Ruijter, [email protected]

Switzerland: Prof Brian Fowler, [email protected]

UK: Prof Jim Bonham, [email protected]

Scheme Organiser: Czech Republic, France, Netherlands, Switzerland & UK: Dr. Xavier Albe, [email protected]












Qualitative Organic Acids (urine)

Aim: To educate and assess the ability of laboratories to detect inherited disorders resulting in recognisable patterns of organic acid excretion

Status: Operated since 1992 (Sheffield only). In 2002 the scheme was split between 2 organising centres (Sheffield and Heidelberg) due to increasing participant numbers.


Eligibility Requirements: None Sample matrix: Heat-treated human urine


Volume/sample: 2-3 ml/vial


No. of shipments/year: 1 shipment of 9 samples. Shipment dates are dependant upon sample supply.

Submission deadlines: 3 deadlines at 6-8 weeks intervals from June to November

Submission of results: Via email, fax or post to Scientific Advisor

Reports: Interim reports are emailed to participants 3 times per year


Scientific Advisors: Sheffield: Dr Camilla Scott, [email protected]

Heidelberg: Dr. Claus-Dieter Langhans, [email protected]

Scheme Organisers: Sheffield: Dr Jennifer Watkinson, [email protected]

Heidelberg: Dr. Claus-Dieter Langhans, [email protected]

Urine Mucopolysaccharides

Aim: To educate and assess the ability of laboratories to detect mucopolysaccharidoses

Status: Pilot scheme 2010 & 2011, full scheme from 2012


Eligibility Requirements: None Sample matrix: Lyophilised human urine


Analytes: Quantitative (related to creatinine) and qualitative analysis of mucopolysaccharides with interpretation of results obtained

No. of shipments/year: One shipment in of 6 samples February - March

Submission deadlines: 2 deadlines in April - June

Submission of results: Via Results Website

Reports: Interim reports are emailed to participants twice a year


Scientific Advisor: Dr. G. Ruijter, [email protected]

Scheme Organiser: Dr. C. Weykamp, [email protected] and

Dr. Xavier Albe, [email protected]











EQA Schemes 2015 Price List

2015 Prices

EQA Schemes Euro GB Pounds* US$

*

1. Quantitative Schemes

Cystine in White Blood Cells 298 238 385

Lysosomal Enzymes (fibroblasts) 515 413 666

Quantitative Amino Acids (serum) 241 193 312

Quantitative Organic Acids (urine) 287 230 371

Purines and Pyrimidines (urine) 302 242 390

Special Assays (serum) 148 119 192

Special Assays (urine) 148 119 192

Special Assays (serum and urine) 264 211 341

2. Qualitative Schemes

Acyl Carnitine (dried blood spots) 273 219 353

Congenital Disorders of Glycosylation (serum) 256 205 332

Diagnostic Proficiency Testing (urine) 364 291 470

Qualitative Organic Acids (urine) 301 241 389

Urine Mucopolysaccharides 237 190 306

Mailing outside Europe: €11/£9/$14 per scheme

Please note:

* The prices for ERNDIM EQA schemes are set in Euro and converted to GB Pounds and US$ based

upon conversion rates of 0.80112 and 1.29266 respectively.

Prices include mailing within Europe. For laboratories outside of Europe an additional mailing charge per scheme is levied

VAT at 20% will be added to invoices for all UK laboratories.




Invoicing and Payment Information

Invoices

Invoices are sent out to participants who have submitted completed registration forms in mid November and are dated 1st January of the following year, as requested by a number of laboratories.

Invoices show:

The EQA schemes chosen

The fees for those schemes and associated mailing charges

Any discounts applied due to sample donation or awarded support grants

Any balance brought forward from previous invoices.

The participant should check the information in the invoice and if all details are correct the invoice should be passed for payment to the appropriate finance department.

If any details on the invoice are not correct the ERNDIM Administration office ([email protected]) should be notified by mid-December and a revised invoice will be issued.

Late payment will incur penalties as specified in the Terms and Conditions (page 12).

Payment Information

ERNDIM accepts payments in Euro, GB pounds or US dollars and it is important that the correct bank account is used for payments in each currency. Payments which are made into the wrong bank account (for example a payment in Euros paid into the GB pounds account) can result in losses due to the bank exchange rate.

Bank Charges relating to the participant’s bank or agent MUST be borne by the participant. ERNDIM is responsible solely for its own bank charges.

Details of the ERNDIM bank accounts are given on the second page of the invoices.





Terms and Conditions of EQA Scheme Participation

1. When registering for ERNDIM EQA schemes it is the responsibility of the person listed as the laboratory primary contact to provide the ERNDIM Administration office with valid, up to date contact and address details, which should include:

Email and postal addresses for named contact persons.

A delivery address for EQA materials.

An invoice address (and named finance contact with email address).

Email address for named Head of Laboratory or Quality Manager (see also point 7)

Any subsequent change in contact persons or address details should be sent to the ERNDIM Administration office ([email protected]) as soon as possible.

2. If your hospital or laboratory procedures require a Purchase Order Number on the invoice, this should be added to the registration form.

3. It is the responsibility of the participant laboratory to ensure that the ERNDIM invoice is paid. Payment for invoices must be received before 1

st April. Penalties for late payment of

invoices are:

Interest charges of 1.3% per month are applied to outstanding balances after 1

st

April. When interest is added to the outstanding balance an updated invoice with a new version number will be sent to the participant.

If there is still an outstanding invoice balance after the 1st July the dispatch of samples to the laboratory in the following year will be delayed until ALL outstanding invoices have been paid.

If there is still an outstanding invoice balance after the 1st September the laboratory will not be eligible to participate in any ERNDIM EQA schemes for the following year and a Certificate of Participation for the current year will not be issued.

4. EQA samples must be treated in the same way as clinical samples.

5. All participating laboratories are given a unique ERNDIM reference number which should be used in all correspondence with ERNDIM.

6. The fact that your laboratory participates in ERNDIM schemes is not confidential, however, the raw data and performance scores are.

7. Laboratories that have unsatisfactory performance or fail to return results will be sent a Performance Support Letter by ERNDIM. If a laboratory does not respond to the Performance Support Letter ERNDIM reserves the right to contact the Head of laboratory or Quality Manager for the laboratory.

8. If a laboratory does not supply the contact details for the Head of laboratory or Quality Manager for the laboratory ERNDIM reserves the right to withhold the laboratory’s Certificate of Participation until such time as the contact details are supplied.

9. If a laboratory does not submit any results, or submits insufficient results for performance to be assessed, for 2 out of 3 years in which they have registered for an EQA scheme, ERNDIM reserves the right to restrict the laboratory’s participation in the EQA scheme in future years.

10. Problems relating to EQA Schemes, including complaints from participating laboratories, should be referred directly to the ERNDIM Administration Office.

11. All documents, and the data they contain, issued by ERNDIM are copyright and may not be published in any form without the permission of the ERNDIM Executive Committee.



EQA Schemes Catalogue 2015 - erndim.org · Pseudo-uridine Thymidine Thymine Uracil Uric acid...

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