Organisation of Biochemical Genetic Testing in Estonia
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1 Organisation of Biochemical Genetic Testing in Estonia Katrin Õunap Department of Pediatrics, University of Tartu Department of Genetics, Tartu University Hospital Basel, 09 th May 2008
2 ESTONIA 1,35 million inhabitants Approximately 300,000 children ~15,000 births per year
3 Genetic service in Estonia In 1990 medical genetic service was opened at Tartu Children s Hospital For counselling children with rare inherited diseases (incl. metabolic diseases) For prenatal testing In 1996 molecular diagnostic laboratory For newborn screening (PKU, hypothyreosis) For DNA testing of inherited diseases (over 30 different tests) Tallinn Children s Hospital Genetic counselling Official genetic centre in 2004
4 At the present moment Two genetic centres for counselling and investigating patients with metabolic diseases: In Tartu University Hospital, Department of Genetics In Tallinn Children s Hospital
5 Following analyses are available: ammonia, lactate, uric acid simple urinary screening tests: Tests for mucopolysaccharidoses (MPS) Teducing substances (Benedickt reaction) Sulfites Ketones (DNPH test) phenylalanine from dried blood (newborn screening since 1993) homocysteine total serum sialotransferrine
6 Following analyses are available: In cooperation with Central Laboratory of Chemistry of Health Protection Inspectorate in Tallinn: Amino acid analysis (HPLC) since 1992 Sugars (HPLC) since 1992 Organic acid GC/MS since 2003 Very long chain fatty acid in serum since 2005 Creatine and guanidinoacetate analysis since 2007 MPS analysis, SAICAR test since 2007
7 No of quantitative biochemical analyses in 2007 Total Tartu Tallinn Amino acids Sugars HPLC Quantitative MPS Organic acid GC/MS GUAA/creatine VLCFA
8 Following analyses are available: In Department of Genetics of Tartu University Hospital DNA tests for: Phenylketonuria (PKU, 6 common mutations) Classical galactosemia (Q188R, sequencing) The main mutation of MCAD deficiency (985A>G) The main mutation of LCHAD deficiency (G1528C) CLN type III
9 Specific metabolic tests and investigations done elsewhere: Over 700 patients during : Urinary organic acid GC/MS 154 Tandem MS screening (acylcarnitines) 172 MPS, oligosaccharides, sialic acid in urine 136 Specific enzymatic tests for LSD 100 Enzyme/DNA analysis for mitochondrial disease 34 The confirmation of classical galactosemia 17 VLCFA in serum 26 Isoelectric focusing of sialotransferrines dehydrocholesterol 26
10 Tests developed out locally: organic acid GC/MS GAA/creatine GAG/oligosaccharides/sialic acid VLCFA galactosemia
11 Training possibilities Biochemist K. Kall studied in Amsterdam MC in 2005 January (3w) organic acid GC/MS, GUAA/creatine, VLCFA Biochemist K. Krabbi studied in Rotterdam Erasmus MC in 2006 (5m) urinary MPS, oligosaccharides
12 Tests to work out in the near future: sialotransferrine IEF tandem MS purines/pyrimidines
13 Tandem MS analysis 3200 Q-TRAP LC MS/MS mass spectrometer (Applied Biosystems, USA) In Department of Biochemistry of Tartu University Dr. K. Joost (ERNDIM scholarship) and biochemist K. Kilk will study in Amsterdam MS in May 2008
14 To continue ordering from abroad enzyme analysis for LSD DNA analysis for mitochondrial diseases enzyme analysis for mitochondrial diseases neurotransmitters biotinidase 7-dehydrocholesterol
15 Problems in ordering from abroad It takes time! The price list of our Health Insurance Fund (HIF) for BGT is ~3-4x lower than in developed EU countries Our HIF does not give us E112 form, but the give the guarantee letter, if we send The application from MD The application from parents Answer within 2-4 weeks
16 Results during : In 123 patients the diagnosis of inherited metabolic disease was confirmed: PKU 38 cases (31%)* 24 during newborn screening program since late diagnosed PKU cases 1 prenatally diagnosed PKU case * There are altogether 77 PKU cases in the register ( )
17 PKU screening programme No of live births No of tested newborns Diagnosed PKU cases
18 1:6100
19 Lysosomal storage disorders: 35 patients (28%) during Mucopolysaccharidoses (MPS) 14 cases 8 patients with MPS II (Hunter syndrome) 4 patients with MPS IIIA (Sanfilippo syndrome) 2 patients with MPS VI (Maroteaux-Lamy s.) Others 21 cases
20 The livebirth incidence of MPS in Estonia 1:24, No of cases of MPS No of livebirths We excluded last 5 years (possible diagnostic time)
21 Other LSD Fabry disease 5 (2 families) GM1 gangliosidosis 3 (2 families) Gaucher disease 3 (2 families) CLN type 2 2 CLN type 1 1 CLN type 3 2 (1 family) Tay-Sachs disease 1 Metachromatic leukodystrophy 1 Wolman disease 1 Niemann-Pick disease 1
22 Classical galactosemia : No of galactosemia cases No of live births 10 patients (8%), Birth prevalence is ~1:20,000
23 Mitochondrial disorders: 10 patients (8%) with mitochondrial disease: Leigh syndrome (2 patients) Respiratory chain complex I deficiency (mtdna mutation T10191C in ND3 gene) Respiratory chain complex I and IV deficiency (mutations in SCO2 gene) Mitochondrial myopathy in a girl and her mother respiratory chain complex I and IV deficiency PDH deficiency (2 patients) MELAS syndrome Kearns-Sayre syndrome (2 patients) LHON
24 Urea cycle disorders: 7 patients (6%) with urea cycle disorders: 1 boy with hemizygous ornitine transcarbamylase (OTC) deficiency 5 females with heterozygous OTC deficiency 1 patient with argininemia
25 Fatty acid oxidation defects: LCHAD One family with 2 children genotype 1528G>C/IVS16-2A>G/A (Olsen et al.) One family with 2 children genotype 1528G>C/ 1528G>C MCAD: We have not found any MCAD deficiency cases! The frequency of possibly affected homozygotes 1 out of (Lilleväli et al. 2000)
26 Other metabolic diseases: Alkaptonuria 2 Tyrosinemia type I 1 Lysinuric protein intolerance 2 Maple syrup urine disease 1 Hyperornithinemia/gyrate atrophy (HOGA) 2 Dihydropteridine reductase (DHPR) deficiency 1 Aromatic L-amino acid decarboxylase (AADC) deficiency 2 Hereditary fructose intolerance 1 CDG Ia 1
27 Many thanks! Charite Virchow Klinikum Prof. E. Mönch Gothenburg University Dr. E. Holme Rotterdam Erasmus University Dr. O.P.van Diggelen, Dr. J. Huijmans Amsterdam Free University Prof. C. Jakobs, Dr. G. Salomons
28 Many thanks! Tallinn Childrens Hospital Dr. R. Zordania, Dr. K. Joost Central Laboratory of Chemistry K. Kall, K. Krabbi, T.-M. Laht Tartu University Hospital Dr. T. Reimand, Dr. K. Muru, K. Varb
29 Thank you for your attention!
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