Download Metabool Laboratorium / DNA Diagnostiek Afdeling

Patiënt informatie (Graag invullen of afslagplaatje)
Metabool Laboratorium / DNA Diagnostiek
Afdeling Klinische Chemie
Naam: …………………….……………………………………………………………........
Geb. datum: …………………….………………………………………………………..
Geslacht:
Door ons laboratorium in te vullen:
Lab nummer: ...........................................................
Datum ontv:………………………….Thema: .……………………
verrichtingen
soort
declaratie
inschrijven
ontvangst e-mail
enquête
Man
Vrouw
BSN: …………………………………………………………………………………….……
Adres: …………………………………………………………………………………….…
Postcode/woonplaats:
Verz. + polisnr:
DNA / DNV / PDD / G / RES
MLDNA / IND/ FAM/ PRE / N
ontv.
…………………….………………………………………...
…………………….……………………………………………………
invoer
afronden / brief
supervisie
DNA
RNA
MLPA
Graag onderstaande velden invullen:
Aanvragend arts:
Afdeling:
...........................................................................................................................
...................................................................................................................................................
Ziekenhuis/instituut:
............................................................................................................................
Materiaal uw referentie: ………………………...
DNA
Bloed (e.g. 2 ml EDTA)
Adres: .........................................................................................................................................................
Fibroblasten
Postcode / Stad: ....................................................................................................................................
Lymfoblasten
Anders: .........................................................................
Tel: .........................................................................../ Fax: ....................................................................
E-mail adres: ..........................................................................................................................................
Zijn er al familieleden getest?
Nee Ja: Ons lab nr: ..............................................
Naam:…………………………………………………………..
Aangevraagd onderzoek (prenatale diagnostiek: na overleg)
Gen :
…………………………………………………………………….
Bekende mutatie:
…………………………………………………
Graag aangeven indien de patiënt en/of
verzorger GEEN toestemming geeft voor
anoniem wetenschappelijk gebruik van het
Aanvullende informatie: (klinische symptomen, biochemie, stamboom, etc) materiaal.
Opsturen materiaal:
2 ml EDTA bloed (een gen)
7 ml EDTA bloed (meerdere genen)
of geïsoleerd DNA opsturen bij kamer temperatuur.
Voor moleculaire prenatale diagnostiek eerst contact opnemen
met Prof. Gajja Salomons.
prof. dr. G.S. Salomons, lab. specialist klinische genetica, hoofd metabool lab.
dr. M.M.C Wamelink, laboratorium specialist klinische genetica
dr. E.A. Struys, analytisch chemicus
dr. D.E.C. Smith, analytisch chemicus
secretariaat Metabool Laboratorium
prof. dr. M.S. van der Knaap, kinderneuroloog
dr. N. Wolf, kinderneuroloog
dr. M.F. Mulder, kinderarts metabole ziekten
dr. J.M. van de Kamp, klinisch geneticus
dr. M. Williams, kinderarts metabole ziekten
DNA diagnostiek_VUMCmetabool lab NL v6 8, 03-08-2016, Pagina 1 van 4
Verzendadres:
VU Medisch Centrum
Afdeling Klinische Chemie
Metabool Lab, PK 1X 009
Prof. Dr. Gajja S. Salomons
Goederenontvangst - BS6
Van der Boechorststraat 6
1081 BT Amsterdam
[email protected]
[email protected]
[email protected]
[email protected]
[email protected]
[email protected]
[email protected]
[email protected]
[email protected]
[email protected]
tel: (020) 4442880
tel: (020) 4442881
tel. (020) 4442416
CCKL #: 33
tel. (020) 4442880
tel: (020) 4442880, fax: (020) 4440305
tel: (020) 4442881, alleen op woensdag
Metabool Laboratorium / DNA Diagnostiek
Afdeling Klinische Chemie
Aanvraag DNA onderzoek, voor de meest actuele lijst zie: www.vumc.nl/ML
Zie ook de laatste pagina van dit aanvraagformulier voor de meest recent gevalideerde genen.
Carbohydrate metabolism disorders
Fructose-1,6-biphosphatase-1 deficiency (FBP1)
Glucan (1,4-alpha-), branching enzyme 1 deficiency /
Glycogen storage disease type IV (Andersen) (GBE1)
Phosphofructokinase deficiency, muscle type / Glycogen
storage disease type VII (Tauri) (PFKM)
Ribose 5-phosphate isomerase deficiency (RPIA)
Transaldolase deficiency (TALDO1)
Transketolase deficiency (TKT)
Triosephosphate isomerase deficiency (TPI1)
Sedoheptulokinase deficiency (SHPK)
Fructokinase, hepatic (also known as ketohexokinase)
(KHK) deficiency
Cobalamin (B12) metabolism disorders
Methylmalonic aciduria, cblA type (MMAA)
Methylmalonic aciduria, cblB type (MMAB)
Methylmalonic aciduria and homocystinuria, cblC type
(MMACHC)
Methylmalonic aciduria and homocystinuria, cblD type
(MMADHC)
Methylmalonic aciduria and homocystinuria, cblF type
(LMBRD1)
Methylmalonic aciduria and homocystinuria, cblJ type
(ABCD4)
Methylmalonic acidemia and homocysteinemia, cblX type
(X-linked) (HCFC1)
5-Methyltetrahydrofolate-homocysteine
methyltransferase deficiency (cblG) (MTR)
5-Methyltetrahydrofolate-homocysteine
methyltransferase reductase deficiency (cblE) (MTRR)
Methylmalonic aciduria due to transcobalamin receptor
defect (TCbIR / CD320)
Gastric intrinsic factor deficiency (GIF)
Megaloblastic anemia-1, Norwegian type (AMN)
Creatine metabolism and transport disorders
Arginine:glycine amidinotransferase deficiency (AGAT/
GATM)
Creatine transporter defect, X-linked (SLC6A8)
Guanidinoacetate methyl transferase deficiency (GAMT)
Monocarboxylate transporter 12 deficiency (SLC16A12)
Folate metabolism and transport disorders
Dihydrofolate reductase deficiency (DHFR)
Folate transport deficiency (FOLR1)
Methylenetetrahydrofolate reductase deficiency (MTHFR)
Methylenetetrahydrofolate dehydrogenase 1 deficiency
(MTHFD1)
GABA metabolism disorders
GABA-transaminase deficiency (GABA-T/ ABAT)
Succinate semialdehyde dehydrogenase deficiency
(SSADH/ ALDH5A1)
Hypophosphatemic rickets
Dentin matrix acidic phosphoprotein 1 deficiency (DMP1)
Ectonucleotide pyrophosphatase / phosphodiesterase 1
deficiency (ENPP1)
Sodium phosphate cotransporter, member 3 deficiency
(SLC34A3)
Lysosomal storage disorders
Arylsulfatase A deficiency (ARSA)
Mannosidase, beta A, lysosomal deficiency (MANBA)
Sulfatase modifying factor 1 deficiency / Multiple sulfatase
deficiency (SUMF1)
Mucolipidosis IV (ML IV)/ mucolipin-1 deficiency (MCOLN1)
Lysosomal acid lipase deficiency (LIPA)
Galactosylceramidase deficiency / Krabbe disease (GALC)
Molybdenum cofactor metabolism disorders
Molybdenum cofactor deficiency, type A (MOCS1)
Molybdenum cofactor deficiency, type B (MOCS2)
Molybdenum cofactor deficiency, type C (GPHN)
Organic acidurias
Canavan disease (ASPA)
D-2-hydroxyglutaric aciduria type I (D2HGDH)
D-2-hydroxyglutaric aciduria type II (IDH2)
D-2-hydroxyglutaric aciduria with metaphyseal
chondromatosis (IDH1)
D-2- and L-2-hydroxyglutaric aciduria / mitochondrial citrate
transporter (SLC25A1)
Glutaric aciduria type 1 (GCDH)
L-2-hydroxyglutaric aciduria (L2HGDH)
Malonyl-CoA-decarboxylase deficiency (MLYCD)
Methylmalonate semialdehyde dehydrogenase deficiency
(ALDH6A1)
Methylmalonyl CoA mutase deficiency (MUT)
Optic atrophy 3 deficiency AD (OPA3)
Acyl-CoA synthetase family, member 3 deficiency (ACSF3)
Propionyl-CoA carboxylase alpha subunit deficiency (PCCA)
Propionyl-CoA carboxylase beta subunit deficiency (PCCB)
2-methylbutyryl glycinuria due to ACADSB deficiency/
2-methylbutyryl-CoA dehydrogenase deficiency (ACADSB)
Purine metabolism disorders
Adenosine kinase deficiency (ADK)
Adenylosuccinate lyase deficiency (ADSL)
DNA diagnostiek_VUMCmetabool lab NL v6 8, 03-08-2016, Pagina 2 van 4
CCKL #: 33
Pyridoxine (B6) metabolism disorders
Pyridoxamine 5'-phosphate oxidase deficiency (PNPO)
Pyridoxine dependent epilepsy / Antiquitin deficiency
(ALDH7A1)
Serine metabolism disorders
Phosphoglycerate dehydrogenase deficiency (PHGDH)
Phosphoserine aminotransferase 1 deficiency (PSAT1)
Phosphoserine phosphatase deficiency (PSPH)
Sulphur amino acids metabolism disorders
Cystathionine beta-synthase deficiency (CBS)
Glycine N-methyltransferase deficiency (GNMT)
Methionine adenosyltransferase deficiency (MAT1A)
5-Methyltetrahydrofolate-homocysteine methyltransferase
deficiency (cblG) (MTR)
5-Methyltetrahydrofolate-homocysteine methyltransferase
reductase deficiency (cblE) (MTRR)
S-adenosylhomocysteine hydrolase (SAHH) deficiency
(AHCY)
Sulfite oxidase deficiency (SUOX)
other Transporter disorders
Glucose transporter (GLUT1) deficiency (SLC2A1)
Hartnup disorder (SLC6A19)
Monocarboxylate transporter 12 deficiency (SLC16A12)
Sodium-dependent citrate transporter, member 5
deficiency (SLC13A5)
Thiamine transporter deficiency (SLC19A3) Lysinuric
protein intolerance (LPI) (SLC7A7)
Urea cycle disorders and inherited hyperammonaemias
Carbamylphosphate synthase 1 deficiency (CPS1)
Citrullinemia type 1/ Argininosuccinate synthetase 1
deficiency (ASS1)
N-acetylglutamate synthase deficiency (NAGS)
Carbonic anhydrase VA deficiency (CA5A)
Miscellaneous
Alexander disease (GFAP)
B-Cell receptor associated protein 31 deficiency (BCAP31)
Ceruloplasmin (ferroxidase) deficiency (CP)
Myoglobinuria, acute recurrent (Rhabdomyolysis) (LPIN1)
Majeed syndrome (LPIN2)
LIPIN 3 (LPIN3)
Nucleotide-binding protein-like protein deficiency (NUBPL)
Quinoid dihydropteridine reductase deficiency (QDPR)
Spermine synthase deficiency (Snyder-Robinson) (SMS)
Alkaline phosphatase, liver deficiency (ALPL)
Congenital disorder of glycosylation, type II d (B4GALT1)
Hyperphenylalaninemia, BH4 deficient, A/ 6-pyruvoyltetrahydropterine synthase deficiency (PTS)
tRNA synthetases
Mitochondrial tRNA synthetases:
Alanyl-tRNA synthetase 2 (AARS2)
Arginyl-tRNA synthetase 2 (RARS2)
Asparaginyl-tRNA synthetase 2 (NARS2)
Aspartyl-tRNA synthetase 2 deficiency /
Leukoencephalopathy with brain stem and spinal cord
involvement and lactate elevation "LBSL" (DARS2)
Cysteinyl-tRNA synthetase 2 (CARS2)
Glutamyl-t-RNA synthetase 2 deficiency /
Leukoencephalopathy with thalamus and brainstem
involvement and high lactate "LTBL" (EARS2)
Histidyl-tRNA synthetase 2 (HARS2)
Isoleucyl-tRNA synthetase 2 (IARS2)
Leucyl-tRNA synthetase 2 (LARS2)
Methionyl-tRNA synthetase 2 (MARS2)
Phenylalanyl-tRNA synthetase 2 (FARS2)
Prolyl-tRNA synthetase 2 (PARS2)
Seryl-tRNA synthetase 2 (SARS2)
Threonyl-tRNA synthetase 2 (TARS2)
Tryptophanyl-tRNA synthetase 2 (WARS2)
Tyrosyl-tRNA synthetase 2 (YARS2)
Valyl-tRNA synthetase 2 (VARS2)
Cytoplasmic tRNA synthetases:
Alanyl-tRNA synthetase (AARS)
Arginyl-tRNA synthetase (RARS)
Asparaginyl-tRNA synthetase (NARS)
Aspartyl-tRNA synthetase deficiency /
Hypomyelinisation with brainstem and spinal cord
involvement and leg spasticity "HBSL" (DARS)
Glutamyl-Prolyl-tRNA synthetase (EPRS)
Cysteinyl-tRNA synthetase (CARS)
Glutaminyl-tRNA synthetase (QARS)
Glycyl-tRNA synthetase (GARS)
Histidyl-tRNA synthetase (HARS)
Isoleucyl-tRNA synthetase (IARS)
Leucyl-tRNA synthetase (LARS)
Lysyl-tRNA synthetase (KARS)
Phenylalanyl-tRNA synthetase, alpha subunit (FARSA)
Phenylalanyl-tRNA synthetase, beta subunit (FARSB)
Seryl-tRNA synthetase (SARS)
Threonyl-tRNA synthetase (TARS)
Tryptophanyl-tRNA synthetase (WARS)
Tyrosyl-tRNA synthetase (YARS)
Valyl-tRNA synthetase (VARS)
tRNA synthetases related:
Aminoacyl-tRNA synthetase Complex-interacting
Multifunctional Protein 1 (AIMP1)
Aminoacyl-tRNA synthetase Complex-interacting
Multifunctional Protein 2 (AIMP2)
D-tyrosyl-tRNA deacylase 1 (DTD1)
Eukaryotic translation elongation factor 1 epsilon 1
(EEF1E1)
Threonyl-tRNA synthetase-like 2 (TARSL2)
X-inactivation studies
DNA diagnostiek_VUMCmetabool lab NL v6 8, 03-08-2016, Pagina 3 van 4
CCKL #: 33
Non ketotic hyperglycinemia (NKH)
Aminomethyltransferase deficiency (AMT)
Glycine cleavage system H-protein deficiency (GCSH)
Glycine decarboxylase deficiency (GLDC)
DNA diagnostiek_VUMCmetabool lab NL v6 8, 03-08-2016, Pagina 4 van 4
CCKL #: 33