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Results 1 - 10 of 13 for laboratory test
  1. HSD17B10 gene 
    ... 3-hydroxybutyryl-CoA, which can be detected with laboratory tests, but do not have the signs and symptoms ...
    https://medlineplus.gov/genetics/gene/hsd17b10 - Genetics
  2. PHKA2 gene 
    ... high in red blood cells when measured by laboratory tests. The subtypes are indistinguishable based on symptoms. More ...
    https://medlineplus.gov/genetics/gene/phka2 - Genetics
  3. LDHB gene 
    ... subunit LDH-B LDH-H LDHB_HUMAN LDHBD Tests of LDHB PubMed LACTATE DEHYDROGENASE B; LDHB NCBI Gene ClinVar Maekawa M, Kanno T. Laboratory and clinical features of lactate dehydrogenase subunit deficiencies. ...
    https://medlineplus.gov/genetics/gene/ldhb - Genetics
  4. NF2 gene 
    ... moesin-ezrin-radixin-like protein SCH schwannomerlin schwannomin ... Nunes FP. Mutational spectrum of the NF2 gene: a meta-analysis of 12 years of research and diagnostic laboratory findings. Hum Mutat. 2007 Jan;28(1):1- ...
    https://medlineplus.gov/genetics/gene/nf2 - Genetics
  5. F2 gene 
    ... on PubMed McGlennen RC, Key NS. Clinical and laboratory management of the prothrombin G20210A mutation. Arch Pathol ... to the standards and guidelines for clinical genetics laboratories. Genet Med. 2005 Jul-Aug;7(6):444- ...
    https://medlineplus.gov/genetics/gene/f2 - Genetics
  6. CFTR gene 
    ... AR, Grody WW, Monaghan KG, Richards S; ACMG Laboratory Quality Assurance Committee. CFTR variant testing: a technical ...
    https://medlineplus.gov/genetics/gene/cftr - Genetics
  7. UPB1 gene 
    ... and the disorder can only be diagnosed with laboratory testing.The mutations that cause beta-ureidopropionase deficiency ... BUP1 n-carbamoyl-beta-alanine amidohydrolase ureidopropionase, beta Tests of UPB1 PubMed BETA-UREIDOPROPIONASE; UPB1 NCBI Gene ...
    https://medlineplus.gov/genetics/gene/upb1 - Genetics
  8. DPYS gene 
    ... individuals the condition can be diagnosed only by laboratory testing. People with dihydropyrimidinase deficiency, including those who ... This Health Condition DHP DHPase dihydropyrimidine amidohydrolase hydantoinase Tests of DPYS PubMed DIHYDROPYRIMIDINASE; DPYS NCBI Gene ClinVar ...
    https://medlineplus.gov/genetics/gene/dpys - Genetics
  9. UBA1 gene 
    ... GFM, CEREMAIA, MINHEMON. Further characterization of clinical and laboratory features in VEXAS syndrome: large-scale analysis of ...
    https://medlineplus.gov/genetics/gene/uba1 - Genetics
  10. HINT1 gene 
    ... The function of this protein is not clear. Laboratory studies show that the HINT1 protein has the ... inhibitor 1 protein kinase C-interacting protein 1 Tests of HINT1 PubMed HISTIDINE TRIAD NUCLEOTIDE-BINDING PROTEIN ...
    https://medlineplus.gov/genetics/gene/hint1 - Genetics
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