med. rer. nat. Nils Janzen Screening-Labor Hannover Laborärztliche Facharztpraxis
Official name: Dr. med. Dr. rer. nat. Nils Janzen Screening-Labor Hannover Laborärztliche Facharztpraxis
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Details
Ronnenberg 30952 , Germany
Accreditation
Provides clinical chemistry and molecular genetics testing, including newborn screening, with capabilities in amino acid profiling and metabolite analysis using liquid chromatography-tandem mass spectrometry on dried blood spots, serum, plasma, and urine.
Accreditation Details
Accreditation Body
DAkkS
Number
D-ML-19642-02-00
Status
ActiveSince
17 July 2024
Accreditation is granted under EU Regulation 765/2008 and assessed against ISO/IEC 17025. Data sourced from official DAkkS records.
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Test Capabilities (48)
| Standard Reference | Description | Category |
|---|---|---|
| Acetat | Guanidinoacetat | Chromatography (GC, HPLC) |
| C5-Carnitin-Isomere | C5-Carnitin-Isomere | Chromatography (GC, HPLC) |
| Cysteamin | Cysteamin | Chromatography (GC, HPLC) |
| Freies Carnitin | Freies Carnitin | Chromatography (GC, HPLC) |
| Freies und Gesamtcarnitin | Freies und Gesamtcarnitin | Chromatography (GC, HPLC) |
| Galaktose-Enzyme | Galaktose-Enzyme | Chromatography (GC, HPLC) |
| Hämoglobinprofil | Hämoglobinprofil | Chromatography (GC, HPLC) |
| Kreatin | Kreatin | Chromatography (GC, HPLC) |
| Lysosomale Speicherkrankheiten | Lysosomale Speicherkrankheiten | Chromatography (GC, HPLC) |
| Nitisinon (NTBC), Succinylaceton | Nitisinon (NTBC), Succinylaceton | Chromatography (GC, HPLC) |
| Oligosaccharide | Oligosaccharide | Chromatography (GC, HPLC) |
| Orotsäure | Orotsäure | Chromatography (GC, HPLC) |
| Purin- und Pyrimidinprofil | Purin- und Pyrimidinprofil | Chromatography (GC, HPLC) |
| Steroidprofil | Steroidprofil | Chromatography (GC, HPLC) |
| Succinylaceton | Succinylaceton | Chromatography (GC, HPLC) |
| Biotinidase | Biotinidase | Clinical Chemistry |
| Galactose-1-Phosphat- Uridyltransferase | Galactose-1-Phosphat- Uridyltransferase | Clinical Chemistry |
| Galaktose | Galaktose | Clinical Chemistry |
| Galaktose und Galaktose-1- Phosphat | Galaktose und Galaktose-1- Phosphat | Clinical Chemistry |
| Glucose-6-Phosphat- Dehydrogenase | Glucose-6-Phosphat- Dehydrogenase | Clinical Chemistry |
| Kreatinin | Kreatinin | Clinical Chemistry |
| MSUD-Verlaufskontrolle (Allo- Isoleucin, Isoleucin, Leucin, Valin) | MSUD-Verlaufskontrolle (Allo- Isoleucin, Isoleucin, Leucin, Valin) | Clinical Chemistry |
| Methionin, Propionylcarnitin, Methylmalonsäure, Homocystein, 2- Methylcitronensäure | Methionin, Propionylcarnitin, Methylmalonsäure, Homocystein, 2- Methylcitronensäure | Clinical Chemistry |
| Methylmalonsäure, 2- Methylcitronensäure, Homocystein | Methylmalonsäure, 2- Methylcitronensäure, Homocystein | Clinical Chemistry |
| lyso-Globotriaosylsphingosin (lyso- Gb3), Glucosylsphingosin (lyso-Gb1) | lyso-Globotriaosylsphingosin (lyso- Gb3), Glucosylsphingosin (lyso-Gb1) | Clinical Chemistry |
| Sulfit | Sulfit | Elemental Analysis |
| TRECs | TRECs | Food Safety Testing |
| Deletionen innerhalb des Cystinosin | Deletionen innerhalb des Cystinosin | Molecular Diagnostics / PCR |
| Exon 7 des SMN2 -Gens, CNV | Exon 7 des SMN2 -Gens, CNV | Molecular Diagnostics / PCR |
| Pathologische Varianten im CFTR- Gen, Panel Kinderrichtlinie | Pathologische Varianten im CFTR- Gen, Panel Kinderrichtlinie | Molecular Diagnostics / PCR |
| Primäre Hyperoxalurie - Punktmutation im HOGA1 -Gen (rs185803104, NG_027922.1:g.20824G>T, c.700+5G>T) | Primäre Hyperoxalurie - Punktmutation im HOGA1 -Gen (rs185803104, NG_027922.1:g.20824G>T, c.700+5G>T) | Molecular Diagnostics / PCR |
| Sichelzellvariante im HBB -Gen (HbS) c.20A>T (p.Glu6Val) | Sichelzellvariante im HBB -Gen (HbS) c.20A>T (p.Glu6Val) | Molecular Diagnostics / PCR |
| Standort: Albert-Schweitzer-Campus | Standort: Albert-Schweitzer-Campus | Molecular Diagnostics / PCR |
| Gens CTNS (17p13.2) - 57 kb Deletion - delGACT (rs786204501, NG_012489.2:g.8757_8760del, c.18_21del GACT)) | Gens CTNS (17p13.2) - 57 kb Deletion - delGACT (rs786204501, NG_012489.2:g.8757_8760del, c.18_21del GACT)) | Other |
| Hormon | Hormon | Other |
| Primäre Hyperoxalurie Typ I - Punktmutation im AGXT-Gen (rs121908529, NG_008005.1:g.7689G>A, c.508G>A)) | Primäre Hyperoxalurie Typ I - Punktmutation im AGXT-Gen (rs121908529, NG_008005.1:g.7689G>A, c.508G>A)) | Other |
| Protein | Protein | Other |
| TRECs, SMA (Exon 7 des SMN1- Gens, rs1164325688, NM_000344.4 (SMN1): c.840C>T | TRECs, SMA (Exon 7 des SMN1- Gens, rs1164325688, NM_000344.4 (SMN1): c.840C>T | Other |
| Vitamin D | Vitamin D | Other |
| 17-OHP, 17-Hydroxyprogesteron | 17-OHP, 17-Hydroxyprogesteron | Spectroscopy (XRF, ICP, AAS) |
| Acylcarnitin-Profil | Acylcarnitinprofil | Spectroscopy (XRF, ICP, AAS) |
| Aminosäureprofil | Aminosäureprofil | Spectroscopy (XRF, ICP, AAS) |
| Glykosaminoglykane | Glykosaminoglykane | Spectroscopy (XRF, ICP, AAS) |
| Hämoglobin | Hämoglobin | Spectroscopy (XRF, ICP, AAS) |
| Hämoglobin, quantitativ | Hämoglobin, quantitativ | Spectroscopy (XRF, ICP, AAS) |
| IRT, Immunreaktives Trypsin | IRT, Immunreaktives Trypsin | Spectroscopy (XRF, ICP, AAS) |
| PAP, Pankreatitis-assoziiertes | PAP, Pankreatitis-assoziiertes | Spectroscopy (XRF, ICP, AAS) |
| TSH, Thyroidea stimulierendes | TSH, Thyroidea stimulierendes | Spectroscopy (XRF, ICP, AAS) |
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