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Metabolic diseases: various

Disease (gene) Method Material Processing time
Alpha-1-antitrypsin deficiency (SERPINA1) 1. PI*Z (p.E342K), PI*S (p.E264V)
2. Sequencing (complete)
EDTA blood / DNA 1. 8-10 Tage
2. 1-2 weeks
Angioedema, hereditary, type I/II; C1-Inh deficiency (SERPING1)* Sequencing (complete) EDTA blood / DNA 2-3 weeks
Angioedema, hereditary, type III (F12)* Sequencing exon 9 (T309K, T309R) EDTA blood / DNA 8-10 Tage
Angiotensin I-converting enzyme (ACE)* PCR analyse of the IVS16 deletion/insertion polymorphism EDTA blood / DNA 8-10 Tage
Apolipoprotein C2 deficiency (APOC2) Sequencing (complete) EDTA blood / DNA 2-3 weeks
Apolipoprotein E deficiency (APOE) Sequencing exon 4 (Codon 112 & 158) [e2, e3, e4 Allele] EDTA blood / DNA 2-3 weeks
Carnitine palmitoyltransferase II deficiency (CPT2)* Sequencing (complete) EDTA blood / DNA 2-3 weeks
Cystathionine ß-synthase deficiency (CBS)* Sequencing (complete) EDTA blood / DNA 3-4 weeks
Cystinosis, Nephropathic (CTNS)* 1. PCR analysis 57kb deletion
2. Sequencing (complete)
EDTA blood / DNA 1. 8-10 Tage
2. 2-3 weeks
Cystic Fibrosis (CFTR) 1. 51 mutation panel
2. Sequencing (complete) & MLPA
EDTA blood 1. 8-10 days
2. 2-3 weeks
Dubin-Johnson syndrome (ABCC2) Sequencing (complete) EDTA blood / DNA 3-4 weeks
Fructose intolerance, hereditary (ALDOB)* Sequencing (complete) & MLPA EDTA blood 2-3 weeks
Galactokinase deficiency (GALK1)* Sequencing (complete) EDTA blood / DNA 2-3 weeks
Galactosemia (GALT)* Sequencing (complete) & MLPA EDTA blood 2-3 weeks
Glucose transport defect (GLUT1 deficiency) (SLC2A1)* Sequencing (complete) & MLPA EDTA blood 2-3 weeks

 

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