ERNDIM number «ERNDIM_Number»
Department of Clinical Chemistry and Newborn Screening
The Children’s Hospital
Sheffield
S10 2TH
Dr J R Bonham
Mrs Camilla Scott
Dr Jane Dalley
UK
Telephone
Fax
(+)44 114 271 7340
(+)44 114 270 6121
E-mail: [email protected]
April 2016
Dear Participant,
ERNDIM Qualitative Organic Acid QA Scheme 2016
Please find enclosed nine heat-treated urine samples and the corresponding response sheets,
forming all three “circulations” for 2016. Please analyse them in three separate sets shortly
before the corresponding closing dates:
Samples S232-S234 have the closing date 24th June.
Samples S235-S237 have the closing date 23rd September.
Samples S238-S240 have the closing date 18th November.
Please try to return your results on time.
Missing results
Over recent years we have had a number of representations from laboratories whose returns
have not been received and who have consequently been given a zero score for that circulation.
Unfortunately we are not able to accept returns sent in after the report for that circulation has
been mailed as this would jeopardize the integrity of the scheme. In most cases the missing
results had been sent by FAX but never arrived but the normal postal services or E-mail may
fail too. As last year, we will send E-mail reminders to any centre whose result is outstanding
after the closing date and, this year, a further reminder will be sent ten days later.
Yours sincerely
Jane Dalley
Camilla Scott
Jim Bonham
ERNDIM Qualitative Organic Acid QA Scheme 2016
The nine heat-treated urine samples enclosed contain thiomersal as preservative.
Set 1: Closing date 24th June
Sample S232
48 year old male with muscle weakness
Sample S233
1 year old boy frequent vomiting and epilepsy
Sample S234
4 year old boy unwell, drowsy and vomiting
Set 2: Closing date 23rd September
Sample S235 3 year old: Microcephaly
Sample S236 39 year old women. Mother of 235
Sample S237
5 year old girls with recurrent kidney stones
Set 3: Closing date 18th November
Sample S238 9 month old girl. Failure to thrive
Sample S239
6 year old female - mild dysmorphic features
Sample S240 35 year old female: Muscle weakness
Analyse these samples in the normal way of your laboratory.
Report as you would to a non-specialist paediatrician in a distant general hospital. If a
specialist colleague (e.g. a clinical geneticist or metabolic paediatrician) normally gives
interpretation and advice on further investigation please include their contribution in your
report.
Please use the report pro-forma to produce a structured response and provide clear guidance to
the requesting physician. When reporting “the most likely diagnosis” it is permissible to use
group terms such as “methylmalonic acidaemia” or “tyrosinaemia non-type 1” and then be
more specific in the following box. The “Further investigations” box should indicate any
additional investigations you consider necessary to interpret or confirm conclusions based on
the analytical results. The “Additional comments” box may be used for caveats or to suggest
other lines of investigation based on the clinical presentation rather than the analytical
findings.
Please Enclose a labeled copy of the total ion chromatogram for each sample.
Address reports to:
ERNDIM Organic Acid EQA Scheme
Department of Clinical Chemistry
Sheffield Children’s Hospital
Sheffield, S10 2TH, UK
Or email results to : E-mail: [email protected]
ERNDIM Organic Acid QA Response Form – ERNDIM #
Sample S232 48 year old male with muscle weakness
Major analytical findings
The most likely diagnosis (one only)
This diagnosis is: Fairly certain
Tentative
Other possible diagnoses (if applicable)
Further investigations required to confirm/clarify the diagnosis
Additional comments (if required)
ERNDIM Organic Acid QA Response Form – ERNDIM #
Sample S233
1 year old boy frequent vomiting and epilepsy
Major analytical findings
The most likely diagnosis (one only)
This diagnosis is: Fairly certain
Tentative
Other possible diagnoses (if applicable)
Further investigations required to confirm/clarify the diagnosis
Additional comments (if required)
ERNDIM Organic Acid QA Response Form - ERNDIM #
Sample S234 4 year old boy unwell, drowsy and vomiting
Major analytical findings
The most likely diagnosis (one only)
This diagnosis is: Fairly certain
Tentative
Other possible diagnoses (if applicable)
Further investigations required to confirm/clarify the diagnosis
Additional comments (if required)
ERNDIM Organic Acid QA Response Form - ERNDIM #
Sample S235 3 year old: Microcephaly
Major analytical findings
The most likely diagnosis (one only)
This diagnosis is: Fairly certain
Tentative
Other possible diagnoses (if applicable)
Further investigations required to confirm/clarify the diagnosis
Additional comments (if required)
ERNDIM Organic Acid QA Response Form - ERNDIM#
Sample S236 39 year old woman. Mother of 235
Major analytical findings
The most likely diagnosis (one only)
This diagnosis is: Fairly certain
Tentative
Other possible diagnoses (if applicable)
Further investigations required to confirm/clarify the diagnosis
Additional comments (if required)
ERNDIM Organic Acid QA Response Form - ERNDIM #
Sample S237 5 year old girl with recurrent kidney stones
Major analytical findings
The most likely diagnosis (one only)
This diagnosis is: Fairly certain
Tentative
Other possible diagnoses (if applicable)
Further investigations required to confirm/clarify the diagnosis
Additional comments (if required)
ERNDIM Organic Acid QA Response Form - ERNDIM #
Sample S238 9 month old girl. Failure to thrive
Major analytical findings
The most likely diagnosis (one only)
This diagnosis is: Fairly certain
Tentative
Other possible diagnoses (if applicable)
Further investigations required to confirm/clarify the diagnosis
Additional comments (if required)
ERNDIM Organic Acid QA Response Form – ERNDIM #
Sample S239 6 year old female - mild dysmorphic features
Major analytical findings
The most likely diagnosis (one only)
This diagnosis is: Fairly certain
Tentative
Other possible diagnoses (if applicable)
Further investigations required to confirm/clarify the diagnosis
Additional comments (if required)
ERNDIM Organic Acid QA Response Form - ERNDIM #
Sample S240 35 year old female: Muscle weakness
Major analytical findings
The most likely diagnosis (one only)
This diagnosis is: Fairly certain
Tentative
Other possible diagnoses (if applicable)
Further investigations required to confirm/clarify the diagnosis
Additional comments (if required)