Download Metabolic Unit / DNA Diagnostics Department of Clinical Chemistry

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Family name:……………………………………………………………………
Metabolic Unit / DNA Diagnostics
Department of Clinical Chemistry
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Datum ontv: ........................................................ Thema: .................
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MLDNA / IND/ FAM/ PRE / N
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DNA
RNA
MLPA
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Referring physician: ................................................................................................................................ Material Your ref. no: ………………………......
DNA
Department: ...................................................................................................................................................
Hospital/institute: .........................................................................................................................................
Blood (e.g. 2 ml EDTA)
Address:...........................................................................................................................................................
Fibroblasts
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Lymphoblasts
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Department: ................................................................................................................................................... Requested test (see page 2 to 4)
Hospital/institute: ......................................................................................................................................... prenatal diagnosis, only after consultation
Address:........................................................................................................................................................... Gene :
……………………………………………
City and Zip-code: ....................................................................................................................................... Known mutation: ………………………………...…
Country: ........................................................................................................................................................... Family members previously tested?
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Alternatively an S2 form can be attached, only European countries.
Additional information: (e.g. clinical symptoms, biochemistry, pedigree, etc.)
Shipment address:
VU University Medical Centre
Dept. Clinical Chemistry,
Metabolic Unit, PK 1X 009
Prof. Dr. Gajja S. Salomons
Goederenontvangst - BS6
Van der Boechorststraat 6
1081 BT Amsterdam
The Netherlands
Directions for collecting and sending samples:
2 ml EDTA blood (one gene)
7 ml EDTA blood (multiple genes)
or isolated DNA can be sent at room temperature.
Please contact Prof. Gajja Salomons for instructions about
molecular prenatal diagnosis.
prof. G.S. Salomons, PhD, clinical laboratory geneticist, head Metabolic Unit
dr. M.M.C Wamelink, PhD, clinical laboratory geneticist
dr. E.A. Struys, PhD, analytical chemist
dr. D.E.C. Smith, PhD, analytical chemist
secretary Metabolic Unit
prof. M.S. van der Knaap, MD PhD, pediatric neurologist
dr. N. Wolf, MD PhD, pediatric neurologist
dr. M.F. Mulder, MD PhD, pediatrician metabolic diseases
dr. J.M. van de Kamp, MD PhD, clinical geneticist
dr. M. Williams, MD, PhD, pediatrician metabolic diseases
DNA diagnostic_VUMCmetabolic lab EN v7 9, 12/11/2016, Page 1 from 4
[email protected]
[email protected]
[email protected]
[email protected]
[email protected]
[email protected]
[email protected]
[email protected]
[email protected]
[email protected]
tel: +31.20.444 2880
tel: +31.20.444 2881
tel. +31.20.444 2416
tel. +31.20.444 2880
tel: +31.20.444 2880, fax: 444 0305
Metabolic Unit / DNA Diagnostics
Department of Clinical Chemistry
Please select the requested test(s), for the most up-to-date list please visit www.vumc.com/ML
See also at page 4 for the most recently validated genes.
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)
Methylmalonic aciduria due to transcobalamin receptor
defect (TCbIR / CD320)
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 deficiencty
(MTHFD1)
prof. G.S. Salomons, PhD, clinical laboratory geneticist, head Metabolic Unit
dr. M.M.C Wamelink, PhD, clinical laboratory geneticist
dr. E.A. Struys, PhD, analytical chemist
dr. D.E.C. Smith, PhD, analytical chemist
secretary Metabolic Unit
prof. M.S. van der Knaap, MD PhD, pediatric neurologist
dr. N. Wolf, MD PhD, pediatric neurologist
dr. M.F. Mulder, MD PhD, pediatrician metabolic diseases
dr. J.M. van de Kamp, MD PhD, clinical geneticist
dr. M. Williams, MD PhD, pediatrician metabolic diseases
DNA diagnostic_VUMCmetabolic lab EN v7 9, 23/11/2016, Page 2 from 4
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)
[email protected]
[email protected]
[email protected]
[email protected]
[email protected]
[email protected]
[email protected]
[email protected]
[email protected]
[email protected]
tel: +31.20.444 2880
tel: +31.20.444 2881
tel. +31.20.444 2416
tel. +31.20.444 2880
tel: +31.20.444 2880, fax: 444 0305
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-pyruvoyltetrahydropterin synthase deficiency (PTS)
17-beta-hydroxysteroid dehydrogenase X deficiency/ 2Methyl-3-Hydroxybutyryl-CoA Dehydrogenase (MHBD)
deficiency
Transmembrane protein 27 (TMEM27)
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) LeucyltRNA 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 diagnostic_VUMCmetabolic lab EN v7 9, 23/11/2016, Page 3 from 4
CLIA ID #: 99D1040080
#M045
Non ketotic hyperglycinemia (NKH)
Aminomethyltransferase deficiency (AMT)
Glycine cleavage system H-protein deficiency (GCSH)
Glycine decarboxylase deficiency (GLDC)
Glycine transporter 1 deficiency (SLC6A9)
Glycine transporter 2 deficiency (SLC6A5)
Lipoic Acid synthase deficiency (LIAS)
BolA family member 3 deficiency (BOLA3)
Glutaredoxin 5 deficiency (GLRX5)
Maple syrup urine disease (MSUD)
Maple syrup urine disease, type Ia (BCKDHA)
Maple syrup urine disease, type Ib (BCKDHB)
Maple syrup urine disease, type II (DBT)
Dihydrolipoamide dehydrogenase deficiency
(MSUD type III) (DLD)
DNA diagnostic_VUMCmetabolic lab EN v7 9, 23/11/2016, Page 4 from 4
CLIA ID #: 99D1040080
#M045