Download Test request form Enzyme diagnostics

Laboratory Genetic Metabolic Diseases
Test request form Enzyme diagnostics
Accr.Nr: 157
EN/ISO 15189
Academic Medical Center
Lab. Genetic Metabolic Diseases (F0-132)
P.O. Box 22700
1100 DE Amsterdam
The Netherlands
Tel:
+31 20 5665393
Fax:
+31 20 6962596
Email:
[email protected]
Website: www.labgmd.nl
Print Form
Dr. S. Ferdinandusse – clinical laboratory geneticist
Dr. M.S. Ebberink – clinical laboratory geneticist, trainee
Prof. dr. R.J.A. Wanders – clinical laboratory geneticist
Dr. A.B.P. van Kuilenburg – clinical laboratory geneticist
To assure correct handling of your request, please fill out this form completely
(Grey fields are mandatory) and send it in together with the sample(s).
Patient information
Family name
First name
Date of birth
Sex
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Day: …………… Month: …………………… Year: ………………………………………
Male/Female
Male/Female
Family members or relatives analyzed previously?
No/unknown
Yes:
Family name, first name
Date of birth (dd/mm/yyyy)
Relationship
Findings
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Requested test (see page 3, 4, 5 and www.labgmd.nl)
Enzyme and/or disorder : ……………………………………………………………………………
Prenatal analysis
Material
Blood (EDTA)*
PBMCs / Lymphocytes
Leukocytes
Erythrocytes
Plasma / Serum
Blood spot
Skin biopsy
Skin fibroblasts
Chorion villi sample
For prenatal testing please
Chorion villi fibroblasts contact the laboratory
before sending samples
Amniocytes
Urine
Tissue ; specify
: ……………………………………………
Other ;
specify
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: ……………………………………………
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* Blood must arrive within 24-48 hours after collection. For detailed specification of transport conditions see www.labgmd.nl
Relevant clinical and laboratory findings
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Results should be sent to
Name
Department
Hospital/institute
Address
City and Zip-code
Country
Phone
Fax
E-mail*
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* Results will be sent per email when fax is unavailable, unless disagreed.
Do not send by email
Copy results should be sent to
Name
Department
Hospital/institute
Address
City and Zip-code
Country
Phone
Fax
E-mail
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Invoice should be sent to*
Name
In case of institution
Department
Hospital/institute
Address
City and Zip-code
Country
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* For EU countries only: Original S2 forms (formerly E 112) should be filled out completely and can be sent
in together with the sample(s) or separately.
Form completed by
Name
Function/Department
Date
Signature
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Please note that without the above requested information the requested test(s) cannot
be performed.
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Tests Enzyme diagnostics
Peroxisomal metabolism
Screening peroxisomal defects
Very long-chain fatty acids
C26:0 lysoPC
Dihydroxyacetonephosphate-acyltransferase (DHAPAT)
Immunofluorescence catalase
Immunofluorescence ALDP (adrenoleukodystrophy protein)
Acyl-CoA oxidase 1 (ACOX1)
D-Bifunctional protein (DBP/MFP2)
Peroxisomal thiolase branched-chain (Sterol Carrier Protein X)
Phytanic acid α -oxidation
Peroxisomal β-oxidation
Immunoblot peroxisomal proteins
Plasmalogens
Mitochondrial fatty acid oxidation
Screening mitochondrial β-oxidation
(acylcarnitine profiling)
Plasmamembrane carnitinetransporter (OCTN2)
Carnitine palmitoyltransferase 1 (CPT1)
Carnitine palmitoyltransferase 2 (CPT2)
Mitochondrial carnitine/acylcarnitine transporter (CACT)
Very long-chain acyl-CoA dehydrogenase (VLCAD)
Mitochondrial trifunctional protein (MTP)
Long-chain 3-hydroxy-acyl-CoA dehydrogenase (LCHAD)
Long-chain 3-ketothiolase
Medium-chain acyl-CoA dehydrogenase (MCAD)
Short-chain acyl-CoA dehydrogenase (SCAD)
Short-chain enoyl-CoA hydratase/Crotonase (ECHS1)
Short-chain 3-hydroxy-acyl-CoA dehydrogenase (SCHAD)
F
Zellweger spectrum defects (ZSD), Acyl-CoA oxidase 1 deficiency (ACOX1),
D-Bifunctional protein deficiency (DBP), X-linked adrenoleukodystrophy (XALD),
Rhizomelic Chondrodysplasia Punctata (RCDP)
F
F
F
F
F
F
F,BL,Lym
F
F
F
F
F
ZSD, XALD, ACOX1, DBP
ZSD, XALD, ACOX1, DBP
ZSD, RCDP
ZSD, ACOX1, DBP
XALD
ACOX1 deficiency
DBP deficiency
SCPx deficiency
Refsum disease
ZSD, XALD, AMACR, SCPx, ACOX1, DBP
ZSD, RCDP
RCDP, ZSD
F
Deficiency of VLCAD, LCHAD/MTP, CPT2, CACT, MCAD, SCAD,
Multiple acyl-CoA dehydrogenase deficiency (MADD/Glutaric aciduria type 2)
F
F
F,BL,Lym
F
F,BL,Lym
F,BL,Lym
Systemic/primary carnitine deficiency
CPT1 deficiency
CPT 2 deficiency
CACT deficiency
VLCAD deficiency
LCHAD/MTP deficiency
F,BL,Lym
F,BL,Lym
F,BL,Lym
F,BL,Lym
MCAD deficiency
SCAD deficiency
ECHS1/Crotonase deficiency
SCHAD deficiency
Amino acid metabolism
Glutaryl-CoA dehydrogenase (GCDH)
F,BL,Lym
Short-chain enoyl-CoA hydratase/Crotonase (ECHS1)
F,BL,Lym
3-Hydroxy-isobutyryl-CoA hydrolase (HIBCH)
F
3-Hydroxy-isobutyric acid dehydrogenase (HIBADH)
F
Methylmalonate semialdehyde dehydrogenase (MMSDH)
F,BL,Lym
Propionyl-CoA carboxylase (PCC)
F,BL,Lym
Short branched-chain acyl-CoA dehydrogenase (SBCAD)
F,BL,Lym
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD)/
F,BL,Lym
Short-branched-chain hydroxyacyl-CoA dehydrogenase (SBCHAD)
Isovaleryl-CoA dehydrogenase (IVD)
F,BL,Lym
3-Methyl-crotonyl-CoA carboxylase (MCC)
F
3-Methyl-glutaconyl-CoA hydratase (MGH)
F,BL,Lym
3-Hydroxy-3-methylglutaryl-CoA lyase (HMGCoA lyase)
F,BL,Lym
BL
Pla
HPla
Leu
Lym
Ery
Bsp
Glutaric aciduria type 1
ECHS1/Crotonase deficiency
HIBCH deficiency
HIBADH deficiency, 3-Hydroxy-isobutyric aciduria
MMSDH deficiency, 3-Hydroxy-isobutyric aciduria
Propionic acidemia
SBCAD deficiency
MHBD/SBCHAD deficiency
Isovaleric acidemia
MCC deficiency
3-Methylglutaconic aciduria type 1
HMGCoA lyase deficiency
= EDTA blood
F
= Fibroblasts
= EDTA plasma
L
= Liver
= only heparine plasma
U
= Urine
= Leukocytes
= Peripheral blood mononuclear cells (PBMCs)
= Erythrocytes
= Bloodspot
For prenatal testing please contact the laboratory before sending samples
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*See next page for Lysosomal Storage Disorders
Tests Enzyme diagnostics continued
Purine and Pyrimidine metabolism
Dihydropyrimidine dehydrogenase (DPD)
F,BL,Lym,L
DPD deficiency
Dihydropyrimidinase (DHP)
L
DHP deficiency
β-Ureidopropionase (β -UP)
L
β-UP deficiency
Thiopurine methyltransferase (TPMT)
BL,Ery
TPMT deficiency
UMP synthase
BL,Ery
UMP synthase deficiency, orotic aciduria
Phosphoribosyl pyrophosphatesynthetase (PRPPs)
BL,Ery
PRPPs deficiency and PRPPs superactivity
Thymidine phosphorylase (TP)
BL,Leu,Bsp
Mitochondrial neurogastrointestinal encephalopathy (MNGIE)
Adenosine deaminase (ADA)
Bsp
Severe combined immunodeficiency (SCID)
Purine nucleoside phosphorylase (PNP)
Bsp
Severe combined immunodeficiency (SCID)
Hypoxanthine-guanine phosphoribosyltransferase (HGPRT)
BL,Ery
Lesch-Nyhan syndrome
Galactose-1-phosphate uridyltransferase (GALT)
BL
Galactosemia type 1, classic galactosemia
Galactokinase (GALK)
BL
Galactosemia type 2
UDP galactose-4-epimerase (GALE)
BL
Galactosemia type 3
Galactose-1-phosphate
BL
Galactosemia
Glucose 6-phosphate dehydrogenase (G6PD)
BL
G6PD deficiency
Pyruvate kinase (PK)
BL
Pyruvate kinase deficiency
Succinyl-CoA : 3-oxoacid transferase (SCOT)
F,BL,Lym
SCOT deficiency
β -ketothiolase (2-methyl-acetoacetyl-CoA specific)
F,BL,Lym
β-ketothiolase deficiency
F
Smith-Lemli-Opitz syndrome (SLO), Desmosterolosis,
Carbohydrate degradation
Ketolysis defects
Cholesterol/isoprenoid biosynthesis
Screening cholesterol biosynthesis defects
(Sterol profiling)
Mevalonate kinase (MVK)
Conradi-Hunermann syndrome, Lathosterolosis and Greenberg dysplasia
F,BL,Lym
Hyper IgD syndrome/mevalonic aciduria
Aromatic amino acid decarboxylase (AADC)
Pla
Aromatic amino acid decarboxylase deficiency
Dopamine β-hydroxylase (DBH)
Serum,HPla
Dopamine β-hydroxylase deficiency
F
Argininosuccinic aciduria
BL,Lym,L
Hyperoxaluria type 2
Fatty aldehyde dehydrogenase (FALDH, SLS)
F,BL,Lym
Sjögren Larsson syndrome
Steroidsulfatase (arylsulfatase C, ARYC)
BL,Leu,F
X-linked ichthyosis
Biotinidase
BL,Pla
Biotinidase deficiency
Neurotransmitter metabolism
Urea cycle enzymes
Argininosuccinate lyase (ASL)
Hyperoxaluria
Glyoxylate reductase (GR)
Miscellaneous enzymes
BL
Pla
HPla
Leu
Lym
Ery
Bsp
= EDTA blood
F
= Fibroblasts
= EDTA plasma
L
= Liver
= only heparine plasma
U
= Urine
= Leukocytes
= Peripheral blood mononuclear cells (PBMCs)
= Erythrocytes
= Bloodspot
For prenatal testing please contact the laboratory before sending samples
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Tests Lysosomal Storage Disorders
Mucopolysaccharidoses
α-L-iduronidase
Iduronate sulfatase
Sulfamidase
N-acetyl-α -D-glucosaminidase
AcetylCoA-glucosamine acetyltransferase
N-acetylglucosamine-6-sulfatase
N-acetylgalactosamine-6-sulfatase
β-D-galactosidase
Arylsulfatase B
β-D-glucuronidase
BL,Leu,F,Bsp
BL,Pla,Leu,F,Bsp
BL,Leu,F
BL,Pla,Leu,F,Bsp
BL,Leu,F
BL,Leu,F
BL,Leu,F
BL,Leu,F
BL,Leu,F
BL,Leu,F,Bsp
MPS Type IH/IS (Hurler/Scheie)
MPS Type II (Hunter)
MPS Type III A (Sanfilippo A)
MPS Type III B (Sanfilippo B)
MPS Type III C (Sanfilippo C)
MPS Type III D (Sanfilippo D)
MPS Type IV A (Morquio A)
MPS Type IV B (Morquio B)
MPS Type VI (Maroteaux-Lamy)
MPS Type VII (Sly)
Mucolipidoses
N-acetyl-α-D-neuraminidase
N-acetyl-β-D-glucosaminidase
F
Mucolipidosis Type I
BL,Pla,Leu,F,Bsp Mucolipidosis Type II and III
(I-cell disease, pseudo-Hurler polydystrophy)
Oligosaccharidoses
α-L-fucosidase
α-D-mannosidase
β-D-mannosidase
N-acetyl-α -D-galactosaminidase
Aspartylglucosaminidase
Protective protein / Cathepsine A
BL,Leu,F,Bsp
BL,Leu,F,Bsp
BL,Leu,F,Bsp
BL,Leu,F
BL,Leu,F
BL,Leu,F
Fucosidosis
α-Mannosidosis
β-Mannosidosis
Schindler / Kanzaki
Aspartylglucosaminuria
Galactosialidosis
BL,Leu,F
BL,Leu,F
BL,Leu,F,Bsp
BL,Leu,F,Bsp
BL,Pla,Leu,F,Bsp
BL,Pla,Leu,F,Bsp
BL,Leu,F
F
BL,Leu,F
Pla
BL,Leu,F
BL,Leu,F,Bsp
Metachromatic leukodystrophy
Mucosulfatidosis / Multiple sulfatase deficiency
Fabry
GM-1 gangliosidosis
Tay-Sachs / GM-2 gangliosidosis B variant
Sandhoff / GM-2 gangliosidose 0 variant
Niemann-Pick Type A/B
Niemann-Pick Type C
Gaucher
Gaucher and several other LSDs
Krabbe
Wolman/ Cholesteryl ester storage disease (CESD)
BL,Leu,F,Bsp
Glycogenose Type II (Pompe)
BL,Leu,F,Bsp
BL,Leu,F
NCL type I (Infantile NCL)
NCL type II (Late infantile NCL)
Sphingolipidoses
Arylsulfatase A
Arylsulfatase A+B
α-D-galactosidase
β-D-galactosidase
N-acetyl-β-D-glucosaminidase A
N-acetyl-β-D-glucosaminidase A+B
Sphingomyelinase
Filipinestaining
β-D-glucosidase
Chitotriosidase
Galactocerebrosidase
Acid Lipase
Glycogenoses
α-D-glucosidase
Neuronal Ceroid Lipofuscinoses
Palmitoyl-protein thioesterase
Tripeptidyl peptidase I
BL
Pla
HPla
Leu
Lym
Ery
Bsp
= EDTA blood
F
= Fibroblasts
= EDTA plasma
L
= Liver
= only heparine plasma
U
= Urine
= Leukocytes
= Peripheral blood mononuclear cells (PBMCs)
= Erythrocytes
= Bloodspot
For prenatal testing please contact the laboratory before sending samples
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INSTRUCTIONS
o Please use the test request form that applies:
o 1) metabolite/tumor-, 2) enzyme-, 3) DNA- diagnostics.
See www.labgmd.nl (Protocols & Forms)
o To assure correct handling of your request, please fill out the test
request form completely in English and send it together with the
sample(s). Grey fields are mandatory.
o Please include copies of all relevant correspondence with our
laboratory concerning the request.
o In case of urgent requests (e.g. prenatal testing) please contact a
staff member of the laboratory BEFORE sending the sample.
o Our laboratory is open on working days Monday to Friday from 8.30
AM to 5.00 PM. Our website www.labgmd.nl lists national holidays on
which our laboratory is closed.
o Please make sure that sample(s) arrive on Friday before 12 AM.
Otherwise we cannot guarantee that we can process the samples
appropriately.
o For test-specific information about material/shipment please visit our
website www.labgmd.nl
Please use the address label on the next page for shipment
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Use this as address label
Laboratory Genetic Metabolic Diseases (F0-132)
Academic Medical Center
Meibergdreef 9
1105 AZ Amsterdam
The Netherlands
DIAGNOSTISCH MATERIAAL
SPOED!
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