To be filled in by physician please - CENTOGENE
To be filled in by physician please - CENTOGENE
To be filled in by physician please - CENTOGENE
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Chief Medical Director:<br />
Prof. Arndt Rolfs, MD<br />
Centogene GmbH<br />
Schill<strong>in</strong>gallee 68<br />
18057 Rostock<br />
Germany<br />
Tel.: +49 (0)381 20365 10<br />
Fax: +49 (0)381 203652 19<br />
Mail: office@centogene.com<br />
Web: www.centogene.com<br />
FN319279d, Corporate Registry Wien<br />
Biochemical Requisition Form Rev. 11<br />
Please fill out all the red-marked/italicized fields with special care.<br />
Patient Data (or sticker)<br />
Physician Data (hospital/cl<strong>in</strong>ic stamp)<br />
Last Name: ....................................... Physician’s Name: .....................................<br />
First Name: ....................................... Hospital/Dep: ..........................................<br />
Mail<strong>in</strong>g address: .................................. Mail<strong>in</strong>g address: .......................................<br />
Zip-code/City: .................................... Zip-code/City: .........................................<br />
Date of birth: ........................ (d/mm/yyyy) Phone: ...................................................<br />
Sex: m w Fax: ......................................................<br />
E-Mail: ...................................................<br />
Date of sampl<strong>in</strong>g: ...............................<br />
Time of sampl<strong>in</strong>g: ............................... Submit copy of report <strong>by</strong> e-mail: yes no<br />
Name of sample taker........................... Invoice to: Patient Cl<strong>in</strong>ic/Hospital<br />
Sample type:<br />
E – EDTA blood S – Serum P – Plasma L – Liquor/CSF U – Ur<strong>in</strong> D – Dried Blood<br />
Cl<strong>in</strong>ical Symptoms:<br />
Tentative Diagnosis:<br />
<strong>To</strong> <strong>be</strong> <strong>filled</strong> <strong>in</strong> <strong>by</strong> <strong>physician</strong> <strong>please</strong><br />
(A detailed medical history is an important prerequisite to an adequate analysis!)<br />
Hypoglycaemia: ❏ yes no Metabolic acidosis: yes no<br />
Hyperammonaemia: yes no Muscular hypotonia: yes no<br />
Epilepsy: yes no Psychomotorical retardation : yes no<br />
Hepatopathy: yes no CK-<strong>in</strong>crease: yes no<br />
Medication: yes no Infusion: yes no<br />
(Please list) ......................................................... (Please list) ..................................................<br />
Special diet: yes no Positive family anamnesis: yes no<br />
(Please list) ........................................................ (Pedigree data to <strong>be</strong> attached <strong>in</strong> separate document)<br />
Request<strong>in</strong>g Physician:<br />
Name: …………………………… Phone: ………………………<br />
Date / signature: ………………………<br />
Contact:<br />
Head of Laboratory: A. Mühl, PhD adolf.muehl@centogene.com<br />
Med. Consultant: M. Holub, MD margareta.holub@centogene.com page 1 of 2
Address for dispatch of samples:<br />
Centogene GmbH<br />
Schill<strong>in</strong>gallee 68<br />
18057 Rostock<br />
Germany<br />
Request (for molecular genetics <strong>please</strong> download the request form from www.centogene.com)<br />
1. Basic-Metabolic Diagnostics:<br />
consits of analysis of:: organic acids/Ur<strong>in</strong>e 4 , acylcarnit<strong>in</strong>es/dried blodd 6 , am<strong>in</strong>o acids/plasma 2 , MPS/ur<strong>in</strong>e 4<br />
2. Am<strong>in</strong>o acid metabolism<br />
Am<strong>in</strong>o acids: (E) 2 ; (D) 6 ; (U) 4 ; (L) 1 Homocyste<strong>in</strong>e (P or E, cooled) 3 Phenylalan<strong>in</strong>e (D) 6<br />
3. Fatty acid metabolism<br />
Acylcarnit<strong>in</strong>es (preferably D but also E) 6,2<br />
4. Special tests URINE<br />
Guanid<strong>in</strong>oacetate (U) 4 Pipecolic acid (U) 4 Creat<strong>in</strong>e / Creat<strong>in</strong><strong>in</strong>e (U) 4 Mucopolysaccharides (U) 4<br />
Succ<strong>in</strong>ylacetone (U) 4 Oligosaccharides (U) 5 Sulfatides* (U) 8 Pur<strong>in</strong>es/Pyrimid<strong>in</strong>es (U) 4<br />
Orotic acid (U) 4 Organic acids (U) 4<br />
5. Special tests BLOOD<br />
CDG-Diagnostic* (E) 2 Pipecolic acid (E) 2 <strong>To</strong>tal galactose (D) 6 Guanid<strong>in</strong>oacetate (D oder E) 6,2<br />
Phytanic acid* (E) 2 Very long cha<strong>in</strong> fatty acids* (E) 2 Succ<strong>in</strong>ylacetone (D) 6<br />
6. Lysosomale enzymes<br />
Screen<strong>in</strong>g of lysosomale storage disoders: M. Fabry, Gaucher, Krab<strong>be</strong>, Niemann-Pick, Pompe, Hurler (MPS-I) 7<br />
α-Fucosidase (E, D*, S) 2,6,1 MLD; Arylsulfatase A (E) 4<br />
α-Mannosidase (E, D*, S) 2,6,1 MPS-I; α-Iduronidase (D or E) 6,2<br />
GM1-Gangl./MPS IVB; β-Galactosidase (E, D*, S) 2,6,1 MPS-II; α-Iduronatsulfatase (D, E) 6,2<br />
MPS VII; β-Glucuronidase (E, D*, S) 2,6,1 MPS-III a-d (E) 3<br />
Fabry; α-Galactosidase (T or E) 6,2 Pompe; α-Glukosidase (D oder E) 6,2<br />
Gaucher; β-Glucosidase (T or E) 6,2 Niemann Pick A/B; Sph<strong>in</strong>gomyel<strong>in</strong>ase (D or E) 6,2<br />
GM2-Gangl.; <strong>To</strong>tal-Hexosam<strong>in</strong>idase (E or T*) 6,2 PPT / NCL1* (E, D) 2,6<br />
GM2-Gangl.; Hexosam<strong>in</strong>idase A (E or T*) 6,2 TPP / NCL2* (E, D) 2,6<br />
Krab<strong>be</strong>; β-Galaktocerebrosidase (T or E) 6<br />
7. Sterol metabolism<br />
17-OH Progesterone (T) 6 Bile acid metabolites* (U) 5<br />
Dehydrocholesterole-(Smith Lemli Opitz Syn.) (E) 2 <strong>To</strong>tal bile acids* (E oder S) 2<br />
8. Biomarker / miscellaneous<br />
Lyso-Gb-3, Biomarker (Fabry) (D or E) 6,2<br />
Lyso-Glucosylsph<strong>in</strong>gos<strong>in</strong>e (L-Gb1), Biomarker (Gaucher) (D or E) 6,2<br />
Nieman-Pick, Sph<strong>in</strong>gosylphosphorylchol<strong>in</strong>e + Derivat e 509 (D) 6<br />
9. Other enzymes<br />
Biot<strong>in</strong>idase (D) 6 Galactose-1P-uridyltransferase (D) 6<br />
10. Newborn-Screen<strong>in</strong>g (patients age max 4 weeks)<br />
Newborn-Screen<strong>in</strong>g (D) 7 (<strong>please</strong> call for additional <strong>in</strong>formation:: +43 (0) 1 798 50 06 300)<br />
M<strong>in</strong>imal amount of sample material per anaylsis:<br />
1) 0, 5 ml 4 ) 5 ml 7) 3 Circles<br />
2) 1 ml 5) 10 ml 8) <strong>To</strong>tal amount of ur<strong>in</strong>e per 24 h<br />
3) 2 ml 6) 1 Circle<br />
*Analysis done <strong>by</strong> external laboratory<br />
Material of sample sent-<strong>in</strong> rema<strong>in</strong>s property of patient. Excessive material of sample will <strong>be</strong> stored up to max. approx. 2 months – up<br />
to this date further analytics can <strong>be</strong> requested or rema<strong>in</strong><strong>in</strong>g material sent back.<br />
Contact:<br />
Head of Laboratory: A. Mühl, PhD adolf.muehl@centogene.com<br />
Med. Consultant: M. Holub, MD margareta.holub@centogene.com page 2 of 2